Thèses : « Amyotrophic lateral sclerosis – patients »

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Bradley, Lloyd John. « Mitochondrial abnormalities in remote tissues of patients with amyotrophic lateral sclerosis ». Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1445375/.

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Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative condition which is almost universally fatal. Some sufferers have an identifiable genetic mutation (<2%), but the majority of cases are sporadic (SALS). There is a body of evidence suggesting involvement of oxidative stress and mitochondrial abnormalities in the pathogenesis of ALS. Mitochondrial function was assessed in remote tissues (muscle, cultured myoblasts, cultured fibroblasts) from patients with ALS and controls. Muscle tissue was examined for histological features consistent with a mitochondrial disorder. Mitochondrial respiratory chain function was measured in mitochondrial homogenates. Mitochondrial protein expression was determined using immunofluorescent antibodies to a mitochondrial DNA (mtDNA)-encoded respiratory chain enzyme subunit with image analysis. MtDNA quantity and quality was assessed using Southern blot and long-range PCR. Analysis of inheritance patterns was performed using a database of familial ALS cases. No mitochondrial abnormalities were identified using these techniques. There was no evidence of anticipation or a sex effect on inheritance. In order to look for a difference in susceptibility to oxidative stress, cell cultures were examined for markers of oxidative damage and apoptosis, following growth with a free radical generating agent (paraquat). These studies demonstrated an increased susceptibility to oxidative damage in patient myoblasts and fibroblasts. This effect was not seen in cybrid studies combining mtDNA from patient platelets with experimental cells devoid of mtDNA (p cells), where no difference in oxidative damage was seen, confirming the absence of a systemic mtDNA abnormality. These results suggest that patients with SALS have an increased systemic sensitivity to oxidative stress which becomes pathological in tissues, such as motor neurons, which are considered to be vulnerable to such stress due to their metabolic activity and structure. This altered sensitivity is due to a factor other than a mitochondrial DNA abnormality, such as a nuclear DNA mutation or an unidentified environmental factor.

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Kasi, Patrick K. « Characterization of motor unit discharge rate in patients with amyotrophic lateral sclerosis ». Worcester, Mass. : Worcester Polytechnic Institute, 2009. http://www.wpi.edu/Pubs/ETD/Available/etd-050409-062647/.

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Lee, Rena J. « Study of trace and minor elements in ALS (amyotrophic lateral sclerosis) patients ». Thesis, Massachusetts Institute of Technology, 1994. http://hdl.handle.net/1721.1/36492.

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Oudenot, Hélèna. « Indirect Estimation of Persistent Inward Currents in Patients with Amyotrophic Lateral Sclerosis ». Thesis, KTH, Tillämpad fysik, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-192844.

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Teyssou, Elisa. « Analyses génétiques et fonctionnelles de nouveaux gènes incriminés dans la Sclérose Latérale Amyotrophique (SLA) Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients ». Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066738.

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La Sclérose Latérale Amyotrophique (SLA) est une maladie neurodégénérative fatale caractérisée par la dégénérescence des motoneurones centraux et périphériques. Elle est le plus souvent sporadique (SALS, 90% des cas), tandis que les formes familiales (FALS) représentent 10% des patients. Une vingtaine de gènes liés à la SLA ont été identifiés et sont responsables de 70% des FALS et 10% des SALS. Le but de ce projet était d’étudier la contribution de 6 gènes rares dans une large cohorte de patients français atteints de SLA et d’étudier les conséquences fonctionnelles de certains variants identifiés. La première partie de ce projet a consisté à réaliser l’analyse génétique des gènes MATR3, CHCHD10, SS18L1, SQSTM1, UBQLN2 et PFN1. Aucun variant causal ne fut identifié pour les 2 premiers gènes alors que 2 nouveaux variants possiblement pathogènes ont été identifiés dans le gène SS18L1, 4 mutations pour SQSTM1, 5 dans UBQLN2 et 2 mutations déjà répertoriées dans le gène PFN1. Cette analyse génétique a permis de souligner un chevauchement génétique entre SLA et maladie de Paget pour SQSTM1 et entre SLA et Paraplégie Spastique pour UBQLN2. La deuxième partie de ce projet a consisté en l’étude de la pathogénicité de certains variants que nous avons identifiés dans les gènes SQSTM1, UBQLN2 et PFN1, par l’analyse (i) des inclusions dans les tissus post mortem de patients, (ii) de l’expression et de la dégradation protéique dans des lymphoblastes issus de patients SLA et/ou (iii) des conséquences cellulaires après surexpression in vitro et in vivo. Ces analyses ont montré, concernant SQSTM1, qui est impliquée dans la formation des autophagosomes, que les mutations perturbaient l’agrégation protéique, que les mutations dans le gène UBQLN2 altéraient la dégradation lysosomale et la liaison de la protéine avec HSP70 et que celles dans PFN1 dérégulaient la voie de l’autophagie alternative et la mitophagie. Notre travail a permis (i) d’évaluer la contribution chez les patients français atteints de SLA de plusieurs gènes incriminés dans la SLA, (i) d’élargir le spectre génétique commun à la SLA et à d’autres pathologies et (iii) de mettre en avant la pertinence de l’implication des voies de dégradation protéique, notamment l’autophagie, dans la pathogénèse de la maladie
The fatal Amyotrophic Lateral Sclerosis (ALS) motor neuron disease is characterized by the degeneration of upper and lower motor neurons. Most ALS cases are sporadic (SALS) whereas ~10% are familial (FALS). A growing number of genes has been identified in ALS and represent 70% of FALS and 10% of SALS. The aims of this project were to analyze the contribution of 6 rare genes in a large population of French ALS patients and to study the pathogenic impact of some identified variants.The first part of this work was dedicated to the genetic analysis of MATR3, CHCHD10, SS18L1, SQSTM1, UBQLN2 and PFN1 genes. No causing variants were identified for MATR3 and CHCHD10 while 2 new variants, probably pathogenic, were identified for SS18L1, as well as 4 mutations for SQSTM1, 5 for UBQLN2 and 2 already reported mutations for PFN1. These analyses also highlighted a genetic overlap between ALS and other diseases: the Paget disease of bone for SQSTM1 and spastic paraplegia for UBQLN2. The second part of this work was to study the pathogenicity of some of the mutations identified in SQSTM1, UBQLN2 and PFN1 genes using analyses of (i) inclusions in ALS patient post-mortem tissue, (ii) protein expression and degradation pathways in patient lymphoblasts and/or (iii) cellular consequences after in vitro and in vivo overexpression. Our results showed prominent aggregation of mutant SQSTM1 (involved in autophagosomes formation), impaired lysosomal degradation and disrupted protein binding to HSP70 for mutant UBQLN2 and deregulated alternative autophagy and mitophagy pathways for mutant PFN1. Our results (i) precised the contribution of several genes in French ALS patients, (i) documented the genetic overlap between ALS and other diseases and (iii) highlighted the role of protein degradation pathways, especially autophagy, in the pathogenesis of ALS

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Lemoignan, Josée. « Decision-making for assisted ventilation in amyotrophic lateral sclerosis ». Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=101862.

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Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease that leads to respiratory compromise and eventually death within two to five years. Even though people with ALS must make many treatment decisions, none has such a significant impact on quality of life and survival as the one pertaining to assisted ventilation. A qualitative research study was undertaken to elicit factors that are pertinent to this decision-making process. Ten individual, semi-structured interviews were conducted with individuals with ALS. Six main themes emerged from the interviews. These are: meaning of the intervention, the importance of context, values, and fears in decision-making, the need for information, and adaptation/acceptance of the intervention. Based on these findings, it is argued that a pluralistic conception of autonomy as well as a shared decision-making model is better suited to give high priority to patient autonomy in this context. Some recommendations to improve clinical practice are proposed.

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Achille, Marie A. « Attitudes toward assisted suicide among patients with amyotrophic lateral sclerosis and their caregivers ». Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0023/NQ51830.pdf.

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Camara, Mafalda Dias de Medeiros Vale da. « Coherence and phase locking disruption in electromyograms of patients with amyotrophic lateral sclerosis ». Master's thesis, Faculdade de Ciências e Tecnologia, 2013. http://hdl.handle.net/10362/10950.

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Dissertação para obtenção do Grau de Mestre em Engenharia Biomédica
In motor neuron disease, the aim of therapy is to prevent or slow neuronal degeneration and early diagnosis is thus essential. Hypothesising that beta-band (15-30 Hz) is a measure of pathways integrity as shown in literature, coherence and PLF could be used as an electrophysiological indicator of upper and lower neuron integrity in patients with ALS. Before further analysis, synthetic EMG signals were computed to verify the used algorithm. Coherence and PLF analyses were performed for instants of steady contraction from contra and ipsilateral acquisitions. Ipsilateral acquisitions were performed for one member of each group and results present significant differences between both groups. Contrarily, contralateral acquisitions were performed on 6 members of each group and results present no significant differences. PLF analysis was computed for ipsilateral acquisitions and, similarly to coherence, results show significant differences between both groups. PLF was also analysed for contralateral acquisitions, and results show no significant differences within groups, as expected since no coherence was found for the same acquisitions. So, while control subjects present no neuronal or muscular problems and therefore higher synchrony and coherence for beta-band frequencies, patients with ALS do not present synchronism or coherence in any frequency, specially for beta-band. All results allowed to conclude that contralateral coherence is not a good measure of corticospinal pathways integrity. However, ipsilateral acquisitions show promising results and it is possible to affirm that ipsilateral measurements may reflect neuronal degeneration. For future work is suggested a deeper analysis of PLF, that appear to have potential as a quantitative test of upper and lower neuron integrity related to ALS.

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BENEDETTI, S. DE. « SPORADIC AMYOTROPHIC LATERAL SCLEROSIS IN PATIENTS WITH COMMON GEOGRAPHICAL ORIGIN : A MULTIDISCIPLINARY STUDY ». Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/486489.

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Amyotrophic Lateral Sclerosis (ALS) is a late onset, fatal, neurodegenerative disorder that selectively affects motor neurons. It leads to the degeneration of both upper and lower motor neurons, respectively in the motor cortex and in the brainstem and spinal cord. Different mechanisms have been proposed to explain the pathogenesis of the disease: protein aggregation, oxidative stress, impairment of mitochondrial function, transcription dysfunctions, alterations in the proteasome pathway, inflammation and excitotoxicity. A wide phenotypical variability is described, likely attributable to a combination of genetic and environmental factors, able to modify the clinical expression of the disease. However, the difficulty to focus on one specific environmental factor, the variability of such exposure in space and time and the interaction between environment and genetic background, hampered the evaluation of their possible role in ALS etiology. The study of geographical clusters of ALS patients has been helpful - in the past years - to get more insights into the pathology. Studying individuals exposed to the same environment, thus ideally subjected to the same exogenous stressors, could be very valuable by limiting one of the most confounding variables in ALS studies. Indeed, a diverse environmental exposure is almost always necessarily present when analyzing the large cohorts of patients that are usually required to reach statistically significant numbers of cases in epidemiological-type studies. This PhD thesis presents a multidisciplinary study performed on a small cohort of sporadic ALS patients, all originating from a restricted and defined geographical area. Focusing on a very limited geographical area, gave the chance to consider the characteristics of the surrounding environment and allowed to raise hypotheses on the possibly involved stressors acting on the local population, being those environmental or dietary contributions. In detail the experiments performed can be divided into five main themes: • To assess possible differences in the diet of ALS subjects and healthy controls and to provide information as for whether the consumption of one or more foods were associated to the disease status by an exploratory questionnaire submitted to the subjects involved in the study. There were no evident differences in the nutrition habits of ALS subjects with respect to healthy controls. • To determine concentrations of a selected panel of metals in serum and whole blood with ICP-MS. Metals analyzed have been chosen based on their biological relevance and previous works. Concentrations of As, Al, Mn, Se, Ni, Pb, Hg, Cu, Fe, Zn, Co, Cr, Ba, Sn, U, V, Sr have been evaluated in serum, while an additional analysis of Cr, Mn, Co, Cu, Zn, As, Se, Pb and Hg has been performed on whole blood. The most striking result comes from the association of lower levels of serum As with the disease status, an occurrence reported for the first time. • To analyze the serum proteome for the first time in ALS studies, through two-dimensional electrophoresis, to dissect the possible links between circulating proteins and circulating metals and to exploit this technique to look for a possible panel of easily accessible disease biomarkers. Proteins in which was registered an alteration are involved in the Acute Phase Response. Indeed, the different expression with respect to controls could be related to the disease status of the subjects. Alterations in some proteins related to lipid homeostasis have been detected, that is consistent with a proposed metabolic shift towards an increased peripheral use of lipids in ALS. Deregulation of lipid homeostasis proteins seems to be more directly linked in modulating the disease progression, as supported from literature data. • To evaluate the genetic background of patients by analyzing the most frequently mutated genes (SOD1, FUS, TDP43 and C9orf72) to exclude a genetic cause of the disease, giving more relevance to the environmental exposure as a risk factor. APOE4 and PON genotypes have been evaluated in the light of the results obtained from the proteomic studies. The allelic frequency for the APOE*4 allele, associated to neurodegeneration, is 3-fold higher as well as APOE*3/APOE*4 genotype in the patients’ group than in control’s. • To evaluate the DNA oxidative stress by Comet Assay, since it is well known that cellular oxidative stress is involved in the disease. Furthermore, metals impaired homeostasis may exacerbate oxidative stress via Fenton reactions. In literature at present there are few works evaluating this aspect with this approach. The levels of endogenous DNA damage did not differ between ALS and control group. To overcome the obvious limits related to the small number of subjects necessarily involved in this study, advantage was taken from the application of a multifactorial statistical evaluation, based on a machine learning software. This software, belonging to the artificial neural networks architecture, was specifically designed to analyze complex problems, where the number of variables significantly exceeds the amount of subjects involved in the study, as usually is in the case of rare diseases. Great amount of data is, nowadays, a limit in understanding results of experiments performed with more and more sophisticated technologies, especially in complex diseases such as ALS. The application of new statistical analyses, based on machine learning, where data are the basis of the creation of models to interpret interactions among variables, would be the key to translate raw data into understandable models. The lack of an effective pharmacological treatment in ALS leads to rapidly looking for alternative approaches to modulate this devastating disease. To this purpose, a nutritional intervention, with the development of specific nutritional formulas, would be an effective tool to intervene on the patients’ lipid profile and to contrast potential metal’s homeostasis impairment. Thus, development of such formulations is strongly supported from the evidences raised from this study, together with its application in clinical trials.

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Osei-Lah, Abena Dansoa. « Intracortical excitability is altered in patients with amyotrophic lateral sclerosis : a transcranial magnetic stimulation study ». Thesis, King's College London (University of London), 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.415039.

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Fomina, Tatiana [Verfasser], et Moritz [Akademischer Betreuer] Grosse-Wentrup. « Brain-Computer Interfaces for patients with Amyotrophic Lateral Sclerosis / Tatiana Fomina ; Betreuer : Moritz Grosse-Wentrup ». Tübingen : Universitätsbibliothek Tübingen, 2017. http://d-nb.info/1165507064/34.

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RUSCONI, MICHELA. « Activation state and functionality of dendritic cells from peripheral blood of amyotrophic lateral sclerosis patients ». Doctoral thesis, Università degli Studi di Milano-Bicocca, 2017. http://hdl.handle.net/10281/153236.

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Molti dati pubblicati sottolineano l’importanza dell’infiammazione per la neurodegenerazione nella sclerosi laterale amiotrofica (SLA) con un aumento del reclutamento al midollo spinale dei monociti periferici, delle cellule dendritiche (DCs) e delle cellule T in modelli murini e nell’uomo. Ad oggi non ci sono dati circa lo stato funzionale delle DCs nel sangue periferico dei pazienti SLA. Lo scopo dello studio è esaminare le DCs circolanti in una coorte di pazienti SLA prendendo in considerazione la loro storia clinica, per capire come queste cellule contribuiscano alla progressione della patologia. Per fare questo abbiamo analizzato la frequenza di espressione delle molecole costimolatorie, migratorie e delle MHC delle DCs CD1c+ e abbiamo indagato la capacità di DCs purificate di produrre spontaneamente e in risposta ad agonisti dei TLR (lipopolisaccaride LPS) citochine infiammatorie. Abbiamo incluso nello studio 72 pazienti SLA, 47 donatori sani e 25 pazienti affetti da disordini neurologici non correlati con la SLA, stratificati per sesso ed età. Il numero di DCs circolanti ed il loro fenotipo sono stati analizzati con analisi citofluorimetriche. Abbiamo trovato che i pazienti SLA hanno un numero minore di DCs circolanti rispetto a donatori sani e che queste DCs esprimono più bassi livelli di ntegrina CD62L. Questa integrina è necessaria per il reclutamento dei leucociti agli organi linfoidi secondari o ai siti infiammatori quindi la nostra osservazione conferma il fatto che nei pazienti SLA le DCs sono reclutate attivamente al sistema nervoso centrale con un meccanismo che coinvolge, presumibilmente, CD62L. Abbiamo poi analizzato la produzione spontanea o indotta da LPS di citochine infiammatorie quali TNFα, IL1β, IL6, IL8, IL10 eCCL2. Abbiamo individuato una sottopopolazione di pazienti con una produzione spontanea di IL8 più alta che mostrano anche una più alta efficienza di secrezione di CCL2. Nonostante non sia stato possibile dimostrare una correlazione tra questa più alta efficienza di secrezione di citochine e la progressione della patologia, alti livelli di CCL2 sono presenti nel midollo spinale di topi SOD, un modello murino per una sottoclasse di pazienti SLA, e in alcuni pazienti. Questa osservazione suggerisce che delle semplici analisi del sangue periferico potrebbero essere sufficienti ad identificare un sottogruppo di pazienti. Abbiamo inoltre analizzato la correlazione tra i livelli di ogni singolo citochina, prima e dopo l’esposizione ad LPS, ed alcuni parametri di malattia. Abbiamo così evidenziato una correlazione inversa tra l’intervallo di tempo tra l’insorgenza e la diagnosi e i livelli di ΔIL6, suggerendo che l’efficienza di produzione di IL6 possa accelerare le fasi iniziale della patologia. In conclusione possiamo dire che le DCs sono il subset cellulare maggiormente reclutato al sistema nervoso centrale. Nonostante la maggior parte delle DCs attivate migrino al sistema nervoso centrale, alcune differenze posso essere osservate a livello del sangue periferico. Sulla base dei nostri risultati le analisi sul sangue periferico potrebbero essere utili a stratificare i pazienti dividendo chi ha un’alta risposta infiammatoria da chi invece non ha alterazioni. Data l’elevata eterogeneità della SLA non è stato possibile, per il momento, osservare correlazioni significative con i parametri di malattia, anche se analisi più raffinate basate su specifici criteri potrebbero essere informative su alcuni particolari aspetti della patologia. L’elevato livello di espressione di CD62L da parte delle DCs periferiche suggerisce che questa molecola possa essere un target per un trattamento in vivo. A questo proposito abbiamo in programma di mettere a punto uno studio preclinico in topi SOD per verificare se un trattamento con un anticorpo bloccante CD62L possa interferire con la progressione della patologia.
Several published data highlight the importance of inflammation for neurodegeneration in Amyotrophic lateral sclerosis (ALS) with an increased spinal cord recruitment of peripheral proinflammatory monocytes, dendritic cells (DCs) and T cells found in patients and animal models. To date no clear data are available regarding the functional state of DCs in peripheral blood of ALS patients.The aim of the present study was to examine circulating DCs in a large cohort of ALS patients taking into account their clinical phase in order to lay the basis to understand how these cells contribute to disease progression. To do this, we performed ex vivo analyses of the frequency and expression of costimulatory, MHC and migratory mole¬cules of CD1c+ DC subsets and we investigated the capacity of purified DCs to spontaneously produce inflammatory cytokines and to respond to the TLR agonist, lipopolysaccharide (LPS). We enrolled 72 ALS patients, 47 healthy donors and 25 Patients affected by neurological disorders unrelated with ALS stratified for age and sex. DC numbers and their phenotype were investigated by cytofluorimetric analyses. We found that ALS patients have much lower number of circulating DCs (identified as CD1c+ and CD19-) compared with healthy donor, and their DCs show an increased expression of the integrin CD62L. Since this integrin is required for the recruitment of leukocytes to secondary lymphoid organs or to inflammatory sites, these observations confirmed that in ALS patients DCs are actively recruited in the central nervous system with a mechanism presumably involving the CD62L molecule. We then analysed the spontaneous o LPS-induced production of inflammatory cytokines such as TNFα, IL1β, IL6, IL8, IL10 and CCL2. We noticed a subpopulation of ALS patients with a higher spontaneous and LPS-induced IL8 production. These patients, interestingly, also showed higher efficiency of CCL2 secretion. Although we could not define a correlation between the higher efficiency of these inflammatory cytokine production and disease progression, high levels of CCL2 have been shown in the spinal cord of SOD mice, a mouse model of a subclass of ALS disease, and in some ALS patients. According to our results, DCs can be a source of CCL2 in the spinal cord in a subpopulation of ALS patients. This observation suggests that a simple peripheral blood analysis can be sufficient to identify subgroups of ALS patients. We, thus, analysed the correlation between the levels of any single cytokines in ALS patients before and after LPS exposure and some disease parameters.We observed a significant inverse correlation between the time from onset to diagnosis and the ΔIL6 levels, suggesting that an increased efficiency of IL-6 production in ALS patients may accelerate the initial phases of the disease.In conclusion, DCs are one of the major cell subset recruited to the central nervous system at least in some ALS patients. Although the majority of activated DCs may migrate to the central nervous system, some differences are still observable in the peripheral blood. Based on our results, peripheral blood DC analyses can be useful to stratify patients in those that have a high inflammatory response versus those that do not show an altered inflammatory pathway.Given the high heterogeneity of ALS disease we could not observe for the moment significant correlations with disease parameters, nevertheless a more refined analysis based on specific criteria is likely to be informative on some particular disease aspects.The high levels of CD62L expression by peripheral blood DCs suggest that this molecule could be a possible target for in vivo treatment. To this regard, we are planning to perform a preclinical study in SOD mice to verify if a treatment with a blocking anti-CD62L antibody could interfere with disease progression.

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Riera-Punet, Nina. « Alterations in the masticatory system in patients with amyotrophic lateral sclerosis and its management with an oral appliance ». Doctoral thesis, Universitat de Barcelona, 2019. http://hdl.handle.net/10803/667061.

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INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive degeneration of the lower (LMN) and upper motor neurons (UMN) in the spinal cord and brain, causing muscle atrophy, muscle weakness, and spasticity. AIMS: With the present thesis we aimed to investigate the alterations and functional limitations of the masticatory system in patients with ALS. The thesis comprises three articles. METHODS: The first two studies assessed a total of 153 ALS patients and 23 control subjects. In study I, the Diagnostic Criteria for Temporomandibular Disorders protocol (DC/TMD) and a specific questionnaire to assess aspects of masticatory dysfunction and frequency of self-injury of the oral mucosa were applied to all participants. Maximum bite force and maximum finger-thumb grip force were determined. In study II, all participants answered using the 8- item Jaw Functional Limitation Scale (JFLS-8). Patients with ALS were grouped by neurologic examination as follows: non- bulbar ALS, bulbar UMN-predominant ALS; bulbar LMN-predominant ALS; and bulbar balanced (UMN + LMN) ALS. Study III included eleven patients with ALS who sought oral treatment because of oral self-biting or TMD-related symptoms. A custom complete-coverage acrylic resin device was fabricated and fitted to each participant. A follow-up visit was planned for 3 months after the placement of the oral appliance, at which point the patients would rate the degree of improvement or worsening of the chief complaint and their degree of satisfaction with the treatment. RESULTS: Study I showed that maximum unassisted and assisted mouth opening, protrusion, left laterotrusion, and finger-thumb grip force were significantly reduced in both spinal- and bulbar-onset patients compared to the control group; however, bite force was reduced only in bulbar-onset patients. ALS patients with tube feeding had the greatest reduction in maximum bite force and mandibular opening. There was no relationship between TMD and ALS. Oral self-injury due to biting was more frequent in the ALS group than in the control group and in the bulbar-onset group compared to the spinal- and respiratory-onset groups. Of the ALS patients in the study, 10% sought dental treatment related to the condition. Thus, in study II, patients with non-bulbar ALS had similar mandibular limitations to healthy participants. Only patients with balanced UMN and LMN bulbar manifestations reported greater difficulties in chewing soft food or in jaw mobility compared to the non-bulbar ALS group. Patients with bulbar involvement also had greater difficulties in chewing tough food or chicken and in swallowing and talking compared to the non-bulbar group, regardless of whether UMN or LMN predominant. Participants in study III reported a mean of 61% improvement of the chief complaint and a mean of 84% satisfaction with the treatment. The mean rate of compliance was 62% of the recommended time and only a few adverse effects were reported. CONCLUSIONS: Patients with ALS showed a reduction in finger-thumb grip force that was twice as great as the reduction in bite force. The maximum range of mandibular movement was also reduced, especially in bulbar-onset patients. ALS patients did not have a higher prevalence of TMD, but did have more traumatic mucosal injury than controls. Bulbar involvement in patients with ALS is associated with functional limitation of the masticatory system. However, balanced bulbar UMN and LMN involvement is associated with the worst impairments, affecting soft food chewing and opening the jaw widely. Patients with ALS were highly satisfied with the use of an oral appliance to manage oral self-biting or TMD-related symptoms. Adherence to this treatment was high and no major adverse effects were observed. The dentist should be an integral part of the multidisciplinary team to manage ALS patients.
INTRODUCCIÓN: La esclerosis lateral amiotrófica (ELA) es una enfermedad neurodegenerativa caracterizada por la degeneración progresiva de las neuronas motoras inferiores (MNI) y superiores (MNS). OBJETIVOS: El objetivo principal de esta tesis ha sido investigar las alteraciones y limitaciones funcionales del sistema masticatorio en pacientes con ELA. La tesis se ha basado en la integración de tres artículos. MATERIAL Y MÉTODOS: Los dos primeros estudios evaluaron 153 pacientes con ELA y 23 sujetos control. En el primer estudio se aplicó el protocolo de criterios diagnósticos para trastornos temporomandibulares (DC/TMD) y un cuestionario para evaluar aspectos de la disfunción masticatoria y la frecuencia de lesiones orales traumáticas por mordisqueo involuntario. Se determinó la fuerza de mordida y la fuerza muscular entre los dedos pulgar e índice. En el segundo estudio se utilizó la escala de limitación funcional de la mandíbula (JFLS-8). El tercer estudio incluyó a once pacientes con ELA a los que se les colocó un dispositivo intraoral y se valoró el grado de satisfacción y la mejoría en su calidad de vida con el tratamiento. RESULTADOS: En el primer estudio los pacientes con ELA presentaron una reducción en los movimientos mandibulares, en la fuerza de mordida y en la fuerza muscular entre los dedos pulgar e índice. En el segundo estudio, los pacientes con ELA bulbar informaron mayores dificultades para masticar y movilidad mandibular reducida en comparación con el grupo de ELA sin afectación bulbar. Los participantes del tercer estudio informaron una media de un 61% de mejoría con respecto al motivo de consulta y una media del 84% de satisfacción con el dispositivo intraoral. CONCLUSIONES: Los pacientes con ELA presentaron una reducción en la fuerza muscular entre los dedos pulgar e índice y en la fuerza de mordida, un rango de movimiento mandibular reducido y mayor frecuencia de lesiones orales traumáticas por mordisqueo involuntario. La afectación bulbar en estos pacientes está asociada a una limitación funcional del sistema masticatorio. La satisfacción de los pacientes con ELA con un dispositivo oral para controlar las lesiones orales traumáticas por mordisqueo involuntario o los síntomas relacionados con TMD fue alta.

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Wagner, Karin Nicole. « Amyotrophic Lateral Sclerosis and Genetic Testing : A Perspective from the ALS Community ». The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1459354988.

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Tarlarini, C. « MOLECULAR AND GENETIC CHARACTERIZATION OF ALS PATIENTS ». Doctoral thesis, Università degli Studi di Milano, 2014. http://hdl.handle.net/2434/232574.

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Amyotrophic lateral sclerosis (ALS) is an adult‑onset, rapidly progressive and ultimately fatal neurodegenerative disorder characterised by degeneration of upper and lower motor neurons. This leads to weakness, muscular atrophy and spasticity, which relentlessly progress to complete paralysis with a low survival rate beyond 5 years from symptom onset. In 10% of cases the disease is considered to be genetically transmitted (FALS) while in the remaining cases it occurs sporadically in the population (SALS). To date cases of hereditary ALS have been attributed to mutations in more than 16 different genes, the most common being SOD1, FUS, TARDBP and C9ORF72; mutations in other genes are rare. The above genes explain 60% of the cases of familial ALS and 15% of sporadic cases. The disease can be subdivided into bulbar (25%) and spinal‑onset (75‑80%) forms. Nevertheless, it is currently recognized that pathological changes are not limited to the motor system: patients with ALS may exhibit cognitive abnormalities ranging from impaired frontal executive dysfunction to overt frontotemporal dementia (FTD). In spite of the above evidence, ALS is regarded as a complex disease in which multiple environmental and genetic risk factors contribute to disease susceptibility. Furthermore it is possible that the phenotypic variability, which is frequently detected within families, could be due to multiple genetic factors as devised in the oligogenic disease model. In the present study we analysed 285 SALS and 17 FALS cases. Globally, our molecular analysis explained 10.3% of all ALS cases (31/302). The genes screened were SOD1, TARDBP, FUS and C9ORF72. Genomic DNA was extracted from peripheral blood through a salting out procedure; coding regions and exon‑intron boundaries of SOD1 (5 exons), TARDBP (1 exon), and FUS (5 exons) genes were amplified from genomic DNA and sequenced. Otherwise the repeat‑primed PCR assay, used for C9ORF72 gene, was performed in order to screen for the presence of the GGGGCC hexanucleotide repeats expansion in ALS patients. The repeat unit of 6 nucleotides expands up to more than several hundred times in the affected individuals. Fewer than 10 repeats are not associated with a pathological phenotype, while more than 30 repeats are associated. However we still do not know the meaning of intermediate repeat sizes (11‑29). This fact complicates the attribution of the size expansion to the pathological phenotype observed. According to the oligogenic disease model, all patients were screened for the most common ALS‑associated genes and all mutated subjects were tested also for ANG. The affected/unaffected family members, when available for the study, were screened for SOD1, TARDBP, FUS and C9ORF72 in order to identify their genetic difference from the proband and to evaluate if this difference could explain an heterogeneous phenotypic expression of the disease. Following these analyses we selected and described in detail 5 FALS and 2 SALS cases and one SETX case, with different intrafamilial phenotypic expression. In one of our SOD1 mutation carriers, the proband manifested the disease after the delivery; together with a specific angiogenin genetic variant this condition seems to have anticipated the age of disease onset and contributed to the aggressive clinical course observed in the proband compared to other family members. We also found one case in which we observed the phenomenon of anticipation, which could be due to hormonal treatments together with the simultaneous presence of 2 mutations (C9ORF72/ TARDBP), as suggested in the oligogenic disease model. Indeed, the neuroprotective effects of estrogens could account for the later age at onset in women as we have tested in another family harbouring the R521C mutation. In this case a male subject developed the disease, whereas his older sister didn’t show any neurological signs. In another family we observed a wide spectrum of clinical symptoms associated with A382T TARDBP mutation. Some family members showed cognitive impairment without signs of ALS, conversely, other relatives showed a typical ALS without any signs of dementia. In addition we have evidence of TARDBP mutation carriers without a neurological phenotype. Surprisingly, two subjects harbouring the mutation in homozygous state display different spectra of clinical symptoms. The screening of SOD1, FUS, C9ORF72 and ANG in the family members, to identify other mutations that could explain this intrafamilial phenotypic heterogeneity, resulted negative; indicating that other genes/conditions could play a role in ALS disease. These data support the hypothesis that phenotypic variability seen in patients carrying the same mutation, could be attributed to additional genetic and/or environmental factors, which could modify the penetrance of the disease. Furthermore we identified a clinical subgroup of patients that develop the disease during pregnancy (child-bearing age), thus indicating an additional modifier conditions linked to hormonal changes. For all these reasons predictive or presymptomatic testing should be undertaken with caution, especially in unaffected family members. Indeed, it is impossible for the genetic test to predict clinical outcomes based on the genotypic results only. A number of uncertainties remain, due to variability in penetrance, expressivity, and modifying factors, such as gene‑gene interactions and environmental influences. This adds to the debate for the ethical and psychological dilemmas about genetic testing, since still more has to be discovered related to this devastating disease.

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Mesaros, Maysen. « Investigating the Genetic Profile of Amyotrophic Lateral Sclerosis in Patients of Diverse Race, Ethnicity, and Ancestry (REA) ». The Ohio State University, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=osu1618934315464032.

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Goggin, Emily Clare Sither. « THE IMPACT OF DYSPHAGIA AND GASTROSTOMY ON QUALITY OF LIFE IN CAREGIVERS OF PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS ». UKnowledge, 2019. https://uknowledge.uky.edu/commdisorders_etds/14.

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There is little research studying the relationship between caregiver quality of life and gastrostomy, a palliative intervention recommended to manage dysphagia and malnutrition in patients diagnosed with Amyotrophic Lateral Sclerosis (ALS). To facilitate a more comprehensive assessment of treatment effectiveness and to better guide patients and their families, this study investigated the relationship between gastrostomy, caregiver strain, and patient disease-related factors. Patients with bulbar-onset ALS and their caregivers were recruited regardless of their decision to accept or decline future gastrostomy. Caregivers completed the Modified Caregiver Strain Index (MCSI) to assess levels of caregiver strain as an index of quality of life. Surveys were completed at 3-month intervals prior to gastrostomy and at a single time point following gastrostomy. Of 13 patient-caregiver dyads recruited, 1 dyad completed both phases of the study as of yet. This caregiver reported increased caregiver strain following gastrostomy. Medical interventions aimed at managing dysphagia, such as gastrostomy, may not have a predictable impact on caregiver strain, as indexed by the MCSI, or changes in caregiver strain may reflect characterological differences among patient-caregiver dyads. Other psychosocial factors within a given patient-caregiver dyad may be stronger predictors of caregiver strain, burden, and quality of life in caregivers.

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Folkesson, Sara, et Maja Svensson. « Patienters upplevelser av sjukdomen amyotrofisk lateralskleros : En studie av självbiografier ». Thesis, University of Skövde, School of Life Sciences, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-4101.

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Ungefär 200 personer insjuknar årligen i sjukdomen amyotrofisk lateralskleros (ALS), vilket ses som en ökning de senaste 30 åren. Att insjukna i en obotlig sjukdom bidrar till både fysiskt och psykiskt lidande. Det är viktigt att förstå patienters upplevelser av sjukdomen vilket det saknas information om. Syftet var att utifrån självbiografier, beskriva patienters upplevelser av att leva med ALS. En kvalitativ innehållsanalys beskriven av Lundman och Hällgren Graneheim gjordes. Datamaterialet bestod av sju självbiografier. Ur datamaterialet urskiljdes patienters känslor och upplevelser kring sjukdomen ALS i form av sex kategorier med tillhörande underkategorier. Kategorierna som framkom var; svårigheter kring den begynnande sjukdomen, tankar kring döden, sorg, bristande självkänsla, att känna sig utlämnad och att få insikt i sin sjukdom. Informanternas beskrev upplevelserna olika eftersom det fanns variationer av varje individs sjukdom. Att slutligen kunna se positiva stunder trots sin sjukdom var betydande. Ingen vet bättre än patienten själv hur den mest uppskattade omvårdnaden kan ges. Därför är det av vikt att lyssna på patienters upplevelser och deras egen berättelse av den upplevda sjukdomen. Erfarenheterna av sjukdomen var av olika karaktär men likheter kunde ses där många upplevelser var återkommande hos de flesta informanterna.

About 200 persons become ill annually with the illness amyotrophic lateral sclerosis (ALS), which can be seen as an increase in the last 30 years. Falling ill in an incurable illness contributes to both physical and psychological suffering. It is important to understand the patient’s experiences of the illness and this is a field where there is little or no information available. The aim of this study was to describe the patients’ experiences of living with ALS from autobiographies. A qualitative content analysis described by Lundman and Hällgren Graneheim was performed. The data material consisted of seven autobiographies. From the data material patient’s feelings and experiences of the illness ALS was discerned in terms of six categories with associated subcategories. The categories were; difficulties of the emerging illness, thoughts about death, sadness, lack of self esteem, to feel deserted and to reach insight into their own illness. The informants described experiences differently due to individual variations of illness. To eventually be able to see positive moments despite the illness was significant. No one knows better than the patient how the most appreciated nursing care should be. Therefore it is of importance to listen to patients’ own experience of the illness. The experiences of the illness varied but similarities could be seen where many experiences were recurrent among most informants.

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Perez, Numa P. « Defining an Electrophysiological Phenotype and Increasing Survival in Amyotrophic Lateral Sclerosis Patient-Derived Motor Neurons ». Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17295886.

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Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressive and almost universally fatal neurodegenerative disease of the human motor nervous system1. Multiple lines of evidence from ALS patients and animal models have suggested that intrinsic motor neuron hyperexcitability plays a key role in the disease2, but it has remained unclear whether this is a direct contributor to the early motor neuron cell death observed in ALS patients. We used motor neurons derived from induced pluripotent stem cells (iPSC) from ALS patients harboring one of three ALS-causing mutations and studied their electrophysiological properties using whole-cell patch-clamp and microelectrode array (MEA) single-unit activity. We indeed found ALS motor neurons were hyperexcitable at baseline relative to healthy controls, and determined this to be due to a reduction in delayed-rectifier potassium currents. We also found that this hyperexcitability directly contributes to the earlier cell death of ALS motor neurons in vitro. We then treated ALS motor neurons with the drug retigabine (currently an FDA- approved anticonvulsant drug), which is a Kv7 potassium channel activator, and found a reversal of this hyperexcitability as well as a normalization of cell life.

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Chatzoudis, Susanne, et Anette Wikström. « Personers erfarenheter av att leva med ALS : En beskrivande litteraturstudie ». Thesis, Högskolan i Gävle, Avdelningen för hälso- och vårdvetenskap, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:hig:diva-22829.

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Bakgrund: Amyotrofisk lateralskleros (ALS) tillhör gruppen motorneuronsjukdomar. Det är en obotlig neurologisk sjukdom som drabbar cirka 200 personer per år i Sverige. De viljestyrda musklerna i kroppen förtvinar vilket leder till att personen får problem med tal och andning. Sjukdomsförloppet varierar beroende på vilken form av motorneuronsjukdom personen drabbas av, vid ALS avlider personen oftast inom 5 år. Syfte: Syftet med litteraturstudien var att beskriva personers erfarenheter av att leva med ALS samt beskriva de inkluderade vetenskapliga artiklarnas undersökningsgrupp. Metod: En beskrivande litteraturstudie som består av 11 kvalitativa artiklar. Huvudresultat: Några patienter var missnöjda med sjukhusvården, de möttes av okunnig personal och blev skickade mellan olika vårdenheter innan diagnosen kunde fastställas. Det ledde till att patienterna själva fick söka efter svar. Patienterna beskrev flera negativa känslor med diagnosen ALS. Under sjukdomsförloppet uppstod även positiva känslor som gjorde att patienterna fortsatte att kämpa. Patienterna använde sig av olika strategier som existentiella tankar, acceptans för hjälpmedel och att ta hjälp av en utomstående vårdare. Stöd från familj och vänner var betydelsefulla för att uthärda sjukdomen och den förväntade döden. Slutsatser: Personer som drabbats av ALS upplevde en känslomässig bergochdalbana, som pendlade mellan positiva och negativa känslor. För flera patienter var det viktigt att ta en dag i taget för att finna meningsfullhet. Sjukdomsupplevelsen är individuell vid ALS och det är viktigt att sjuksköterskan använder sig av personcentrerad vård. Det är betydelsefullt att sjuksköterskan tar till sig patienters och anhörigas erfarenheter för att bevara dess integritet och autonomi.
Background: Amyotrophic lateral sclerosis (ALS) belongs to a group of motor neuron diseases. It is an incurable neurological disease that affects approximately 200 people per year in Sweden. The involuntary muscles of the body atrophies which causing the person problems to speak and breath. The disease progression varies depending on the version of motor neuron disease the person suffering, at ALS person usually dies within 5 years. Aim: The purpose of this study was to describe people's experiences of living with ALS and describe the study group of the included scientific articles. Method: A descriptive literature study consisting of 11 qualitative articles. Main Results: Some patients were not satisfied with the hospital care, they were met by ignorant staff and were sent between different care units before a diagnosis could be decided. At the end the patients themselves were searching for answers themselves. Patients describe several negative feelings diagnosed with ALS. During the progression of the disease even positive emotions came and encouraged the patients continue to struggle. Patients used different strategies like existential thoughts, acceptance of aid and help from outside caregiver. Support from family and friends were important to cope with the disease and the expected death. Conclusions: People who suffer from ALS experienced an emotional roller coaster, which commuted between positive and negative feelings. For many patients, it was important to take one day at a time to find meaningfulness. The experience from the illness is individual from ALS and it is important that the nurse uses the person-centered care. It is important that the nurse learn from the patients and relatives experience to preserve the integrity and autonomy.

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Liu, Jingyu [Verfasser], Julian [Gutachter] Großkreutz, Andreas [Gutachter] Hochhaus et Andreas [Gutachter] Hochhaus. « Calcium dysregulation in mononuclear cells from patients with Amyotrophic lateral sclerosis / Jingyu Liu ; Gutachter : Julian Großkreutz, Andreas Hochhaus, Andreas Hermann ». Jena : Friedrich-Schiller-Universität Jena, 2018. http://d-nb.info/1170398510/34.

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Jackson, Mandy. « Screening of familial and sporadic amyotrophic lateral sclerosis patients for mutations in CuZn superoxide dismutase (SOD-1) and other candidate genes ». Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363787.

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Cartemo, Maria, Frida Starck et Elin Larsson. « Hur vardagslivet gestaltar sig hos patienter med diagnosen ALS och MS : En studie gjord för att öka kunskapen och förståelsen hos sjuksköterskan ». Thesis, University of Skövde, School of Life Sciences, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-1060.

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Amyotrofisk lateralskleros och multipel skleros är båda neurologiska sjukdomar som orsakar fysiska begränsningar och påverkar vardagslivet. Syftet med studien var att undersöka hur vardagslivet gestaltar sig för dessa patienter. Studien baseras på en kvalitativ metod utifrån sex självbiografier och en biografi, vilket ger en insyn i patienternas egna upplevelser av hur det är att leva med ALS eller MS. Resultatet består av fyra huvudteman; Relationer, Begränsningar, Psykisk hälsa och Tankar. I samband med sjukdomen blir relationer mer betydelsefulla samtidigt som den för med sig påfrestningar i förhållandet. Begränsningarna kan leda till att den sjuke får allt svårare att klara av sin vardag vad det gäller hemmet, fritiden samt arbete. Den psykiska hälsan kan yttra sig som depression och det blir en daglig kamp där de söker mening med livet och försöker ta kontroll över situationen. Tankarna handlar om nya värderingar i livet och deras ovisshet om framtiden samt att acceptera situationen. Denna studie kan öka sjuksköterskans kunskap och förståelse för patientens situation, samt vara till hjälp vid individanpassningen av omvårdnaden för dessa patienter. Den kan även vara till hjälp för andra personer som vårdar dessa patienter, som till exempel anhöriga och annan ansvarig vårdpersonal.

Amyotrophic lateral sclerosis and multiple sclerosis are both neurological diseases that cause physical limitations and have consequences on daily life. The aim of this study was to clarify how this daily life appears for these patients. The study is based on a qualitative method with six autobiographies and one biography, which gives an insight of their own, lived experiences on how it is to live with ALS or MS. The result contains four main subjects; Relations, Limitations, Psychical health and Thoughts. In sickness relations becomes more of value, but it also cause stress within a relationship. The limitations make life more difficult in different aspects, such as home environment, leisure activities and work. The mental health can develop into a depression and it becomes a daily fight where they seek a meaning with life and try to take control over the situation. Thoughts are about new values in life, an uncertainty about the future and to accept the situation. The findings of this study can give nurses more knowledge and understanding and be helpful when adjusting nursing care for each of these individuals. It can also be a help to other people who take care of these patients, such as family members and other involved care staff.

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Björnstedt, Annhild, et Sofie Redner. « Patienters upplevelser av att leva med Amyotrofisk Lateral Skleros : En litteraturstudie ». Thesis, Ersta Sköndal Bräcke högskola, Institutionen för vårdvetenskap, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:esh:diva-8044.

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Bakgrund: Amyotrofisk lateral skleros är en terminal progressiv sjukdom där motoriska nervceller i hjärnan, hjärnstammen och ryggmärgen bryts ner och dör. Musklerna blir därmed understimulerade och förtvinar vilket leder till förlamning. Majoriteten av personerna som insjuknar i amyotrofisk lateral skleros avlider inom fem år. Cirka 10-20 procent lever längre än tio år från sjukdomsdebut. Att diagnostiseras med amyotrofisk lateral skleros innebär en chock och en omfattande livsomställning. Då det inte finns något botemedel är det viktigt att patienten erbjuds individanpassad omvårdnad samt psykosocialt och existentiellt stöd för att lindra symtom och stärka patientens livskvalitet. Syfte: Syftet var att beskriva patienters upplevelser av att leva med Amyotrofisk Lateral Skleros. Metod: Litteraturstudie baserad på befintlig forskning inom området. Tio vårdvetenskapliga artiklar hämtade från databaserna CINAHL Complete och MEDLINE har använts och tillvägagångssättet har utförts enligt Fribergs metod. Resultat: I resultatet framträdde tre teman och fyra subteman som beskrev olika aspekter av att leva med amyotrofisk lateral skleros. De teman som identifierades var: livet faller samman med subtemana förlust av förmågor och förlust av mening, att bygga upp livet på nytt med subtemana acceptans och anpassning och finna mening samt beslut kring vård. Att leva med amyotrofisk lateral skleros innebar sorg, osäkerhet och rädsla samt en känsla av att livet förlorat mening. Sjukdomens progression innebar ett ständigt beslutsfattande kring vård. Familjens delaktighet i vårdbesluten var betydelsefull men gav även upphov till pliktkänslor. Förlusten av fysiska förmågor medförde både rädsla för att helt förlora kontrollen i livet och bli beroende av andra samt rädsla inför döden. Trots detta var det möjligt för deltagarna att acceptera och anpassa sig till sjukdomen samt att hitta ny mening i livet och uppleva livskvalitet. Diskussion: Resultatet diskuterades utifrån ytterligare forskning samt Callista Roys adaptionsmodell som berör människans förmåga till anpassning. De delar som lyftes fram och diskuterades var acceptans, anpassning, autonomi och pliktkänsla.
Background: Amyotrophic Lateral Sclerosis is a terminal progressive disease in which themotor neurons in the brain, brainstem and spinal cord breaks down and dies. As a result of this the muscles becomes under stimulated and atrophies which leads to paralysis. The majority of persons suffering from Amyotrophic Lateral Sclerosis die within five years. Between 10-20 percent live longer than ten years from the onset of the disease. Being diagnosed with Amyotrophic Lateral Sclerosis causes a shock and leads to a sweeping life change. Since there is no cure, it is important that people with Amyotrophic Lateral Sclerosis are offered individualized care as well as psychosocial and existential support in order to relieve symptoms and strengthen the patient’s quality of life. Aim: The aim was to describe patients’ experiences of living with Amyotrophic Lateral Sclerosis. Method: Literature study based on existing research in the field. Ten articles on care science have been used from the databases CINAHL Complete and MEDLINE. The procedure has been carried out according to Friberg's method. Results: The result featured three themes and four subthemes that described different aspects of living with Amyotrophic Lateral Sclerosis. The themes that were identified were: life falls apart with subthemes loss of abilities and loss of meaning, rebuilding life with subthemes acceptance and adaptation and finding meaning and decisions about care. Living with Amyotrophic Lateral Sclerosis meant grief, insecurity and fear as well as a feeling that life had lost meaning. The progression of the disease led to a constant decision-making process regarding care. The family's participation in health care decisions was meaningful, but also caused feelings of duty. The loss of physical abilities led to fear of completely losing control in life and becoming dependent on others but also fear of death itself. Despite this, the participants were able to accept and adapt to the disease allowing them to find new meaning and experience quality of life. Discussion: The results were discussed on the basis of further research and Callista Roy's adaptation model, which is about people's ability to adapt. The parts highlighted in the discussion were acceptance, adaption, autonomy and feelings of duty.

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DEMURU, MATTEO. « Topology matters : characteristics of functional brain networks in healthy subjects and patients with Epilepsy, Diabetes, or Amyotrophic Lateral Sclerosis during a resting-state paradigm ». Doctoral thesis, Università degli Studi di Cagliari, 2015. http://hdl.handle.net/11584/266613.

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The brain can be seen as a complex structural and functional network. Cognitive functioning strongly depends on the organization of functional brain networks. EEG/MEG resting-‐state functional connectivity and functional brain networks studies attempt to characterize normal brain organization as well as deviation from it due to brain diseases. Despite the impact on the understanding of brain functioning that these tools provided, there are still methodological hurdles that might compromise the quality of the results. The main aim of this thesis was to gain an understanding of the role of functional connectivity and network topology on brain functioning by: (i) addressing the methodological issues intrinsic in the analysis that can bias the results; (ii) quantifying functional connectivity differences possibly induced by brain impairments; (iii) detecting and quantifying how network topology changes, due to brain impairments. In order to achieve these objectives, functional connectivity and functional brain networks obtained by empirical recordings were reconstructed. Recordings were acquired with different modalities (EEG or MEG) and under different pathologies: epilepsy, diabetes and amyotrophic lateral sclerosis. Specifically three research questions were addressed: • Do functional brain network architectures obtained from pharmaco-‐resistant epileptic patients responding to vagal nerve stimulation (VNS) change compared to patients not responding to VNS? • Are functional connectivity alterations related to cognitive performance and clinical status in type I diabetes mellitus patients? • Is functional network topology related to disease duration in amyotrophic lateral sclerosis patients? In order to answer these questions, avoiding possible biases which may affect the results, two key choices were made: first, the selection of the phase lag index [1] as functional connectivity estimator because it is less sensible to common sources problem; second, the application of minimum spanning tree (MST) [2] approach to overcome the problem of network comparison and characterize network topology reliably. In summary, this thesis confirms that alterations of functional connectivity and functional brain networks in disease may be used as potential biomarkers for more objective diagnosis and the choice of effective treatment options. Specifically, in epileptic patients implanted with VNS the relation between network measures and clinical benefit suggest that these measures can be used as a marker in monitoring the efficacy of the treatment; in amyotrophic lateral sclerosis the relation between disease duration and whole brain network disruption suggests diagnostic relevance of network measures in evaluating and monitoring the disease; and finally in type 1 diabetic mellitus patients functional connectivity measures can be complementary to cognitive tests and may help to monitor the effect of T1DM on brain functions.

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Samuelsson, Johanna, Sofie Johansson et Frida Jason. « Patienters upplevelse av omvårdnaden vid Amyotrofisk lateral skleros ». Thesis, Högskolan i Halmstad, Akademin för hälsa och välfärd, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-33823.

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Amyotrofisk lateral skleros (ALS) är ett samlingsnamn för olika neurologiska och obotliga sjukdomar som kännetecknas av nedbrytning av det motoriska nervsystemet. Symtom som svaghet i muskler uppkommer succesivt och orsakar andningssvikt och förlamning. Idag saknas adekvat bromsmedicin mot ALS vilket gör att fokus läggs på symtomlindring. För att kunna ge en god omvårdnad till patienter med ALS är det viktigt med ökad kunskap och förståelse inom hälso- och sjukvården, vilket kan leda till en bättre livskvalitet. Syftet med studien var att undersöka hur patienter med ALS upplever omvårdnaden under sjukdomstiden. Metoden som användes var en litteraturstudie baserad på 11 vetenskapliga artiklar. I resultatet framträdde tre kategorier; att vara medskapare i sin vård som innebar att patienter upplevde att beslutsfattande, kontroll och bristande kunskap påverkade omvårdnaden. Att få individanpassad vård innebar att få stöd, tid och ett gott bemötande. Patienter som upplevde sig bli beroende av omvårdnaden kände sig som en börda och maktlösa. Det är angeläget med forskning som undersöker hur patienter med ALS upplever omvårdnaden eftersom nuvarande forskning främst är inriktad på hur patienter upplever sjukdomen.
Amyotrophic lateral sclerosis (ALS) is a generic name for various neurological and incurable diseases characterized by the breakdown of the motor nervous system. Symptoms such as muscle weakness occur gradually and causes respiratory failure and paralysis. Today there is no cure for ALS, but instead are the sight on symptom relief. In order to provide good care to patients with ALS, it is important to increase knowledge and understanding of health care, which can lead to a better quality of life. The purpose of this study was to examine how patients with ALS experience nursing care during illness. The method used was a literature review based on 11 scientific articles. The result appeared in three categories; to be co-creators in their care which involved patients felt that decision making, control and lack of knowledge affected the care. To get individualized care meant to get support, time and good treatment. Patients felt that they become dependent on nursing felt as a burden and powerless. It is important with research that examines how patients with ALS experience care as current research mainly focuses on how patients experience the disease.

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Andrews, Jinsy A., Lisa Meng, Sarah F. Kulke, Stacy A. Rudnicki, Andrew A. Wolff, Michael E. Bozik, Fady I. Malik et Jeremy M. Shefner. « Association Between Decline in Slow Vital Capacity and Respiratory Insufficiency, Use of Assisted Ventilation, Tracheostomy, or Death in Patients With Amyotrophic Lateral Sclerosis ». AMER MEDICAL ASSOC, 2018. http://hdl.handle.net/10150/626557.

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IMPORTANCE The prognostic value of slow vital capacity (SVC) in relation to respiratory function decline and disease progression in patients with amyotrophic lateral sclerosis (ALS) is not well understood. OBJECTIVE To investigate the rate of decline in percentage predicted SVC and its association with respiratory-related clinical events and mortality in patients with ALS. DESIGN, SETTING, AND PARTICIPANTS This retrospective study included 893 placebo-treated patients from 2 large clinical trials (EMPOWER and BENEFIT-ALS, conducted from March 28, 2011, to November 1, 2012, and from October 23, 2012, to March 21, 2014, respectively) and an ALS trial database (PRO-ACT, containing studies completed between 1990 and 2010) to investigate the rate of decline in SVC. Data from the EMPOWER trial (which enrolled adults with possible, probable, or definite ALS; symptom onset within 24 months before screening; and upright SVC at least 65% of predicted value for age, height, and sex) were used to assess the relationship of SVC to respiratory-related clinical events; 456 patients randomized to placebo were used in this analysis. The 2 clinical trials included patients from North America, Australia, and Europe. MAIN OUTCOMES AND MEASURES Clinical events included the earlier of time to death or time to decline in the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) respiratory subdomain, time to onset of respiratory insufficiency, time to tracheostomy, and all-cause mortality. RESULTS Among 893 placebo-treated patients with ALS, the mean (SD) patient age was 56.7 (11.2) years, and the mean (SD) SVC was 90.5%(17.1%) at baseline; 65.5%(585 of 893) were male, and 20.5%(183 of 893) had bulbar-onset ALS. In EMPOWER, average decline of SVC from baseline through 1.5-year follow-up was - 2.7 percentage points per month. Steeper declines were found in patients older than 65 years (-3.6 percentage points per month [P=.005 vs < 50 years and P=.007 vs 50-65 years) and in patients with an ALSFRS-R total score of 39 or less at baseline (-3.1 percentage points per month [P<.001 vs >39]). When the rate of decline of SVC was slower by 1.5 percentage points per month in the first 6 months, risk reductions for events after 6 months were 19% for decline in the ALSFRS-R respiratory subdomain or death after 6 months, 22% for first onset of respiratory insufficiency or death after 6 months, 23% for first occurrence of tracheostomy or death after 6 months, and 23% for death at any time after 6 months (P<.001 for all). CONCLUSIONS AND RELEVANCE The rate of decline in SVC is associated with meaningful clinical events in ALS, including respiratory failure, tracheostomy, or death, suggesting that it is an important indicator of clinical progression.

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Hewamadduma, Channa. « Investigation of the role of TDP-43 in amyotrophic lateral sclerosis (ALS) using patient derived fibroblasts and zebrafish as models ». Thesis, University of Sheffield, 2014. http://etheses.whiterose.ac.uk/7134/.

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Arosenius, Maria, et Lidh Linnéa Holmqvist. « En kamp mot tiden : Att uppleva livskvalitét och välbefinnande vid den obotliga sjukdomen ALS ». Thesis, Högskolan i Halmstad, Sektionen för hälsa och samhälle (HOS), 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-24227.

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Amyotrofisk lateralskleros (ALS) är en obotlig, neurologisk sjukdom som karaktäriseras av en progressiv nedbrytning av det motoriska nervsystemet. Symtomen är tilltagande muskelsvaghet som slutligen orsakar förlamning och andningssvikt. Överlevnadstiden från sjukdomens debut är två till fem år. Det finns i dagsläget ingen botande behandling mot ALS, istället läggs fokus på att lindra symtom. Syftet med studien var att belysa livskvalitét och välbefinnande hos patienter med den obotliga sjukdomen ALS. Metoden som användes var en litteraturstudie baserad på tretton vetenskapliga artiklar som analyserades och sammanställdes. I resultatet framkom fyra teman; Betydelsen av fysisk försämring och förlust av kroppslig funktion, Betydelsen av stöd från familj, vänner och vårdgivare, Betydelsen av att leva i nuet och blunda för framtiden samt Betydelsen av att känna hopp och upprätthålla en positiv syn på livet. Det är angeläget att det genomförs fler kvalitativa studier som undersöker patienters individuella upplevelser av att leva med sjukdomen ALS.
Amyotrophic lateral sclerosis (ALS) is an incurable, neurological disease characterized by a progressive degeneration of the motor nervous system. The symptoms of the disease are progressive muscle weakness that eventually causes paralysis and respiratory failure. The survival time from the onset of the disease is two to five years. There is currently no cure for ALS and treatment consists of symptomatic relief. The aim of the study was to illuminate quality of life and well-being in patients with the incurable disease ALS. The method used was a literature review based on thirteen scientific articles that were analyzed and compiled. The results revealed four themes; the importance of physical deterioration and loss of bodily function, the importance of support from family, friends and caregivers, the importance of living in the present and ignore the future and the importance of feeling hope and maintain a positive outlook on life. It is significant that more qualitative studies are being made, studies that explore patients' individual experiences of living with the disease ALS.

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Marin, Andrei Vlad [Verfasser]. « "Observing the brain through the eye" : a longitudinal study on amyotrophic lateral sclerosis patients using optical coherence tomography and magnetic resonance imaging / Andrei Vlad Marin ». Ulm : Universität Ulm, 2020. http://d-nb.info/1218168528/34.

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Bergqvist, Lisen, et Sofie Johansson. « ATT BLI FÅNGE I SIN EGEN KROPP : En litteraturstudie om patienters upplevelser av välbefinnande vid ALS ». Thesis, Högskolan i Skövde, Institutionen för hälsa och lärande, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-10946.

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Olander, Carolina, et Anette Schoberg. « Patienters upplevelser av att leva med amyotrofisk lateralskleros ». Thesis, Högskolan i Halmstad, Akademin för hälsa och välfärd, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-36889.

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Amyotrofisk lateralskleros är en sjukdom som drabbar det centrala nervsystemet och orsakar muskelförlamningar. Sjukdomen är obotlig vilket gör att vården endast handlar om att lindra symptom och minska lidande. Syftet med studien var att beskriva patienters upplevelser av att leva med amyotrofisk lateralskleros. Metoden som användes var en allmän litteraturstudie där tio vetenskapliga artiklar valdes ut efter granskning. Med hjälp av en innehållsanalys framkom tio olika subteman och ur dessa abstraherades fyra huvudteman. Dessa fyra huvudteman var; upplevelse av förlust, upplevelse av förändring, upplevelse av beroende och upplevelse av meningen med livet. Resultatet visade att leva med amyotrofisk lateralskleros upplevdes som att leva ett liv med ständig förlust och förändring vilket påverkade de drabbades identitet och autonomi samt gav en upplevelse av att vara beroende av andra. För att finna styrka att hantera vardagen var upplevelsen av att känna meningsfullhet av betydelse. Det behövs mer omvårdnadsstudier som belyser patienter med amyotrofisk lateralskleros så att sjuksköterskan kan få en bättre förståelse för hur patienterna upplever omvårdnaden och sin sjukdom för att kunna hjälpa dem på bästa sätt. Sjuksköterskeutbildningen bör inkludera hur sjuksköterskan ska stödja och möta denna grupp av patienter och deras anhöriga. Även vidareutbildning för sjuksköterskor bör erbjudas av arbetsgivare.

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Starck, Camilla, et Carolina Wahlgren. « Support and encounter of patients with ALS and those who are close to them - A litterature review ». Thesis, Malmö högskola, Fakulteten för hälsa och samhälle (HS), 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-26121.

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Amyotrofisk lateralskleros (ALS) är i nuläget en obotlig sjukdom och sjukdomsförloppet går ofta väldigt fort. Omvårdnaden måste därför vara specifik för dessa patienter. Syfte: Huvudsyftet med denna litteraturstudie var att belysa vårdpersonalens stöd och bemötande av patienter med en obotlig sjukdom som ALS och deras närstående. Syftet var även att belysa hur de närstående påverkas av att vara vårdgivande åt sin närstående med ALS. Metod: För att besvara våra frågeställningar har vi valt att göra en litteraturstudie som bygger på tio vetenskapliga artiklar. Artiklarna kvalitetsbedömdes utifrån Carlsson och Eimans bedömningsmall för kvalitativa och kvantitativa studier. Som teoretisk referensram har vi använt oss av en modell av Carnevali. Resultat: Att vara närstående till patienter med ALS påverkar de flesta negativt på något sätt i deras dagliga liv. Alla patienter och dess närstående måste bemötas utifrån sina behov och individuell information är en viktig del i omvårdnadsarbetet. Slutsats: De slutsatser vi drar utifrån vårt resultat är att alla patienter och deras närstående är individer och bör därför bemötas på ett individuellt sätt utifrån deras individuella behov.
In the present time amyotrophic lateral sclerosis (ALS) is an untreatable disease and the course of the disease is often very fast. Nursing of the patients has to be specific. Purpose: The purpose of this literature study was to elucidate caregivers encounter of patients with an untreatable disease like ALS and those who are close to the patients. Method: To answer our research questions we have chosen to do a literature study witch is based on ten scientific articles. The articles were quality rated using Carlsson and Eimans ratingscale for qualitative and quantitative studies. As a frame of reference we used a model by Carnevali. Result: To be one of those who are close to the patients with ALS can affect them in a negative way in their daily life. All patients and those who are close to them have to be encountered by their own needs and individual information is an important part of nursing. Conclusion: From our result we made the conclusions that all patients and those who are close to them are individuals and should be encountered by their personal needs.

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Timmer, Katharina [Verfasser], Jörg T. [Gutachter] Epplen et Bernd [Gutachter] Eiben. « Screening for mutations in the genes VCP and KIAA0196 in patients with frontotemporal dementia and amyotrophic lateral sclerosis / Katharina Timmer. Gutachter : Jörg T. Epplen ; Bernd Eiben ». Bochum : Ruhr-Universität Bochum, 2016. http://d-nb.info/1102525391/34.

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Garcia, Natasha E. « PURPOSE IN LIFE IN ALS PATIENT-CAREGIVER DYADS : A MULTILEVEL LONGITUDINAL ANALYSIS ». UKnowledge, 2015. http://uknowledge.uky.edu/psychology_etds/65.

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Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease. Despite the debilitating nature of this disease, some evidence suggests patients maintain their quality of life (QOL). Caregivers, on the other hand, experience decreased QOL. Evidence suggests existential aspects of well-being such as purpose in life (PIL) may be unique and stable sources of well-being for patients and caregivers. Furthermore, patients’ and caregivers’ well-being may impact one another. The present study examined the variance structure, trajectory, and dyadic relationship of PIL and QOL in patients with ALS and their caregivers (N = 110 dyads). Data from the Seattle ALS Patient Profile Project were utilized; PIL and QOL were assessed seven times, over eighteen months. PIL was more stable than QOL and therefore a psychological resource for patients and caregivers. PIL and QOL declined with time and disease severity. Individual differences in proximity to diagnosis and death moderated within-individual change. Decline was more rapid following diagnosis and approaching death, suggesting these are critical periods in which individuals need increased support. Well-being within the dyad was interrelated. Average QOL was similar across dyads. PIL within the dyad changed together over time. Dyadic relationships may reflect similar life conditions and a shared disease experience.

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Helming, Kristérn Emelie, et Malin Nordström. « Upplevelsen av Amyotrofisk lateralskleros : En litteraturstudie ur ett patientperspektiv ». Thesis, Linnéuniversitetet, Institutionen för hälso- och vårdvetenskap (HV), 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:lnu:diva-76839.

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Bakgrund: Amyotrofisk lateralskleros är en fortskridande motorneuronsjukdom som drabbar de nervceller som styr skelettmuskulaturen. Sjukdomen leder till en successivt ökande muskelförsvagning och till sist döden, oftast inom 3-5 år från det att diagnos satts. Sjukdomen orsakar ett stort lidande för patienten och dennes närstående då den kan vara snabbt fortskridande och oförutsägbar. Syfte: Syftet var att beskriva upplevelsen av att leva med ALS. Metod: Studien genomfördes som en kvalitativ litteraturstudie med induktiv ansats och är baserad på 10 kvalitativa originalartiklar. Artiklarna analyserades med hjälp av en manifest innehållsanalys och resulterade i 4 huvudkategorier och 12 underkategorier. Resultat: Resultatet visade att upplevelsen av att leva med ALS är individuell men vissa fynd stack ut mer än andra. Dessa var de ständiga förlusterna sjukdomen medförde, upplevelsen av att vara en börda för andra, sjukdomen gav patienten en ny synvinkel på livet samt att kunna finna mening trots sjukdomen. Slutsats: Upplevelsen av ALS är mångdimensionell och individuell. Sjukdomen innebär svåra prövningar för den drabbade individen men med rätt stöd från anhöriga och sjuksköterskan kan lidandet lindras och meningen i livet bibehållas.

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VOLPE, CLARA. « EPIGENETIC MARKS AND PATHOLOGICAL FEATURES ASSOCIATED TO MUTANT C9ORF72 GENE IN AMYOTROPHIC LATERAL SCLEROSIS : AN IN VITRO STUDY IN PATIENT-DERIVED INDUCED PLURIPOTENT STEM CELLS AND MOTOR NEURONS ». Doctoral thesis, Università degli Studi di Milano, 2020. http://hdl.handle.net/2434/704314.

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The expansion of the hexanucleotide repeat sequence GGGGCC (>30 repeats) in the first intron of C9ORF72 gene is the main genetic cause of two neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). The 5’ promoter of C9ORF72 gene has been found hypermethylated in 30% of C9ORF72 positive (C9+) ALS/FTLD patients and never in unexpanded patients and healthy controls. Promoter methylation seems to have a neuroprotective role from RNA toxicity and RAN translated dipeptide repeats (DPRs). The aim of this study has been to characterize C9+ ALS patient-derived induced pluripotent stem cells (iPSC) and differentiated motor neurons (iPSC-MN) correlating epigenetic marks of gene promoter and of the GC-rich repeat expansion (HRE) to C9ORF72-related pathological features (gene expression, RNA foci and DPRs). We initially studied 3 different C9+ iPSC lines which were cultured for up to 40 passages in vitro and, at each timepoint (10th, 20th, 30th and 40th passage), DNA was extracted for genetic and epigenetic characterization, RNA was obtained for Q-PCR analyses and slides were fixed for C9ORF72 RNA foci count. C9+ iPSCs were also differentiated into motor neurons for three times and iPSC-MNs were harvested for the same molecular characterization as for iPSCs. We observed a down-regulation of the two HRE-harboring mRNA isoforms (V1 and V3) both in iPSCs and iPSC-MNs when the promoter was methylated, while RNA foci number showed no correlation with methylation state. Moreover, we found that the epigenetic pattern of promoter methylation could change after C9+ iPSC reprogramming and through differentiation into iPSC-MNs. When we extended our analysis to a cohort of 8 different C9+ iPSC lines, we observed that both epigenetic marks and HRE length may influence RNA foci formation. Our study reports for the first time in C9+ iPSC and iPSC-MNs that promoter methylation can be considered a possible therapeutic target and corroborates that patient-derived cells represent a suitable model for further studies on C9ORF72-related neurodegeneration.

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Byström, Julia, et Emma Larsson. « Att leva med djävulens sjukdom (ALS) och behovet av livsförlängande behandling : en litteraturöversikt ». Thesis, Ersta Sköndal Bräcke högskola, Institutionen för vårdvetenskap, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:esh:diva-6554.

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Bakgrund: Amyotrofisk lateral skleros (ALS) är en ovanlig sjukdom vars sjukdomsförlopp kan gå mycket fort. Det är vanligt att patienter med ALS får livsuppehållande behandlingar för att förlänga livet och för att förbättra livskvaliteten. Olika typer av behandling används för denna patientgrupp. De som beskrivs är ventilationsbehandling och nutritionsbehandling med gastrostomi. Självbestämmande, hälsa och livskvalitet är komponenter av värde för att förstå patienters perspektiv. Syfte: Syftet var att beskriva hur det är att leva med livsförlängande behandling vid sjukdomen ALS. Metod: En litteraturöversikt utfördes med vetenskapliga artiklar inom kunskapsområdet för att belysa det aktuella kunskapsläget. Fribergs metodbeskrivning och analysmetod användes. Tolv vetenskapliga artiklar användes från flertal länder i resultatet. Resultat: Resultatet presenteras i huvudteman med tillhörande subteman. Tema ett: Att ta beslut till behandling innefattar Patientens roll i beslutsfattande och Sjukvårdens betydelse vid beslutsfattande. Tema två: Att acceptera behandling är en process. Tema tre: Att vara i nuet och leva vidare med behandling innefattar Att vara i nuet och Att leva vidare. Diskussion: Den teoretiska utgångspunkten som användes var Virginia Hendersons behovsteori i grundläggande sjukvård. Uppsatsen visar vad patienter uttrycker som betydelsefullt när de står inför beslut kring livsförlängande behandling. Att ha självbestämmande, att ha kontroll och att sjukvården ska vara förtroendeingivande är betydelsefullt. Acceptansprocessen, stöd och möjligheter till att leva vidare har betydelse för meningsfullheten hos patienter.
Background: Amyotrophic lateral sclerosis (ALS) is an unusual disease where the disease progress can be very fast. It is common for patients with ALS to receive life-sustaining treatments to prolong their lives and improve their quality of life. Different types of treatment are used for this group of patients, those described are ventilation and nutritional treatment with gastrostomy. Self-determination, health and quality of life are components of value to understand the patient's perspective. Aim: The aim was to describe how it is to live with life-prolonging treatment with the disease ALS. Method: A literature review was conducted with scientific articles to highlight the current state of knowledge in the field. Friberg's methodology and method of analysis were used. Twelve scientific articles were used from several countries in the result. Results: The results are presented in main themes with associated subthemes. Theme one: Decision making for treatment includes the role of the patient in decision making and the meaning of health care in decision making. Theme two: Accepting treatment is a process. Theme Three: Being in the present and continuing on with treatment includes being in the present and living on. Discussion: The theoretical basis used was Virginia Henderson and her theory of needs in the basic healthcare. This essay shows what patients express as important when they are faced with decisions about life-prolonged treatment. Having self-determination, having control and that the care must be trustworthy are important. The acceptance process, support and the opportunity to live on are important for the meaningfulness of patients.

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Ekholm, Regina Johansson Zandra. « ALS - bokstäverna som förändrar livet ». Thesis, Linnéuniversitetet, Institutionen för hälso- och vårdvetenskap (HV), 2019. http://urn.kb.se/resolve?urn=urn:nbn:se:lnu:diva-79816.

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Bakgrund:Amyotrofisk lateralskleros (ALS) tillhör gruppen neurologiska sjukdomar. Den har ett snabbt förlopp och går inte att bota. I Sverige insjuknar 220-250 invånare varje år och 750-850 invånare beräknas ha sjukdomen idag. Medelålder är 45-75 år men kan debutera i alla åldrar. Efter sjukdomens första symtom ses en förväntad livslängd mellan två till tre år.Syfte:Att belysa patienters upplevelser av att leva med ALS. Metod:Denna litteraturstudie är av induktiv ansats med integrerad analys och baseras på 8 vetenskapliga artiklar som speglar människors upplevelse. Sökningar gjordes i databaserna CINAHL och PubMed.Resultat:I analysen identifierades två huvudkategorierAtt förlora fotfästet med underkategorierna att tappa kontrollen ochatt hamna i beroendeställning.ALS innebär en stor förändring i livet med blandade känslor som att inte kunna kontrollera sin egen kropp. Att möta problemen med underkategoriernaatt accepteraoch att möta någon med samma diagnos. Det är viktigt att försöka acceptera situationen och göra det bästa av tiden som finns kvar. Slutsats:ALS innebär både positiva och negativa upplevelser. Livet är inte längre en självklarhet och tiden blir dyrbar. Det är viktigt att som sjuksköterska ha bra kunskap om sjukdomen och vårda med livsvärlden som fokus.

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Drbal, Abed Alnaser A. A. « Studies on Bioactive Lipid Mediators Involved in Brain Function and Neurodegenerative Disorders. The effect of ¿-3PUFA supplementation and lithium treatment on rat brain sphingomyelin species and endocannabinoids formation ; changes in oxysterol profiles in blood of ALS patients and animal models of ALS ». Thesis, University of Bradford, 2013. http://hdl.handle.net/10454/6285.

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Lipids are important for structural and physiological functions of neuronal cell membranes. They exhibit a range of biological effects many are bioactive lipid mediators derived from polyunsaturated fatty acids such as sphingolipids, fatty acid ethanolamides (FA-EA) and endocannabinoids (EC). These lipid mediators and oxysterols elicit potent bioactive functions in many physiological and pathological processes of the brain and neuronal tissues. They have been investigated for biomarker discovery of ageing, neuroinflammation and neurodegenerative disorders. The n-3 fatty acids EPA and DPA are thought to exhibit a range of neuroprotective effects many of which are mediated through production of such lipid mediators. The aims of this study were to evaluate the effects of n-3 EPA and n-3 DPA supplementation on RBC membranes and in this way assess dietary compliance and to investigate brain sphingomyelin species of adult and aged rats supplemented with n-3 EPA and n-3 DPA to evaluate the effects and benefits on age-related changes in the brain. Furthermore, to study the effects of lithium on the brain FA-EAs and ECs to further understand the neuroprotective effects of lithium neuroprotective action on neuroinflammation as induced by LPS. Finally to examine if circulating oxysterols are linked to the prevalence of ALS and whether RBC fatty acids are markers of this action in relation to age and disease stages. These analytes were extracted from tissue samples and analysed with GC, LC/ESI-MS/MS and GC-MS. It was found that aged rats exhibited a significant increase in brain AA and decrease in ¿n-3 and ¿n-6 PUFAs when compared to adult animals. The observed increase of brain AA was reversed following n-3 EPA and n-3 DPA supplementation. Sphingomyelin was significantly increased when aged animals were supplemented with n-3 DPA. LPS treatment following lithium supplementation increased LA-EA and ALA-EA, while it decreased DHA-EA. Both oxysterols 24-OH and 27-OH increased in ALS patients and SOD1-mice. Eicosadienoic acid was different in ASL-patients compared to aged SOD1-mice. These studies demonstrated that dietary intake of n-3 EPA and n-3DPA significantly altered RBC fatty acids and sphingolipids in rat brain. They suggest that n-3 DPA can be a potential storage form for EPA, as shown by retro-conversion of n-3 DPA into EPA in erythrocyte membranes, ensuring supply of n-3 EPA. Also, n-3 EPA and n-3 DPA supplementation can contribute to an increase in brain sphingomyelin species with implications for age effects and regulation of brain development. Effects of lithium highlight novel anti-neuroinflammatory treatment pathways. Both 24-hydroxycholesterol and eicosadienoic acid may be used as biomarkers in ALS thereby possibly helping to manage the progressive stages of disease.
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Drbal, Abed Alnaser Anter Amer. « Studies on bioactive lipid mediators involved in brain function and neurodegenerative disorders : the effect of ω-3PUFA supplementation and lithium treatment on rat brain sphingomyelin species and endocannabinoids formation : changes in oxysterol profiles in blood of ALS patients and animal models of ALS ». Thesis, University of Bradford, 2013. http://hdl.handle.net/10454/6285.

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Lipids are important for structural and physiological functions of neuronal cell membranes. They exhibit a range of biological effects many are bioactive lipid mediators derived from polyunsaturated fatty acids such as sphingolipids, fatty acid ethanolamides (FA-EA) and endocannabinoids (EC). These lipid mediators and oxysterols elicit potent bioactive functions in many physiological and pathological processes of the brain and neuronal tissues. They have been investigated for biomarker discovery of ageing, neuroinflammation and neurodegenerative disorders. The n-3 fatty acids EPA and DPA are thought to exhibit a range of neuroprotective effects many of which are mediated through production of such lipid mediators. The aims of this study were to evaluate the effects of n-3 EPA and n-3 DPA supplementation on RBC membranes and in this way assess dietary compliance and to investigate brain sphingomyelin species of adult and aged rats supplemented with n-3 EPA and n-3 DPA to evaluate the effects and benefits on age-related changes in the brain. Furthermore, to study the effects of lithium on the brain FA-EAs and ECs to further understand the neuroprotective effects of lithium neuroprotective action on neuroinflammation as induced by LPS. Finally to examine if circulating oxysterols are linked to the prevalence of ALS and whether RBC fatty acids are markers of this action in relation to age and disease stages. These analytes were extracted from tissue samples and analysed with GC, LC/ESI-MS/MS and GC-MS. It was found that aged rats exhibited a significant increase in brain AA and decrease in Σn-3 and Σn-6 PUFAs when compared to adult animals. The observed increase of brain AA was reversed following n-3 EPA and n-3 DPA supplementation. Sphingomyelin was significantly increased when aged animals were supplemented with n-3 DPA. LPS treatment following lithium supplementation increased LA-EA and ALA-EA, while it decreased DHA-EA. Both oxysterols 24-OH and 27-OH increased in ALS patients and SOD1-mice. Eicosadienoic acid was different in ASL-patients compared to aged SOD1-mice. These studies demonstrated that dietary intake of n-3 EPA and n-3DPA significantly altered RBC fatty acids and sphingolipids in rat brain. They suggest that n-3 DPA can be a potential storage form for EPA, as shown by retro-conversion of n-3 DPA into EPA in erythrocyte membranes, ensuring supply of n-3 EPA. Also, n-3 EPA and n-3 DPA supplementation can contribute to an increase in brain sphingomyelin species with implications for age effects and regulation of brain development. Effects of lithium highlight novel anti-neuroinflammatory treatment pathways. Both 24-hydroxycholesterol and eicosadienoic acid may be used as biomarkers in ALS thereby possibly helping to manage the progressive stages of disease.

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Johansson, Monika, et Carina Thomsen. « Omvårdnad vid andningsproblematik och sväljproblematik hos ALS patienter ». Thesis, Högskolan Dalarna, Omvårdnad, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:du-4200.

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Amyotrofisk Lateral Skleros, ALS, är en neurologisk sjukdom vilken leder till att samtliga kroppens muskler förtvinas och dör. Då sjukdomen saknar bot blir all behandling symptomatisk och individuellt anpassad för varje enskild persons behov. I denna systematiska litteraturstudie har det sökts efter olika sätt att stötta denna patientgrupp då syftet att belysa hur vi som personal kan hjälpa och stötta personer med ALS relaterad dysfagi och andningsproblem till en så bra tillvaro som möjligt skulle belysas.Författarna har funnit att omvårdnaden sällan sätts i fokus. Det är istället de lösningar som tar bort symtomet som fått fokus i flertalet av de artiklar som granskats. Att hjälpa dessa personer till trygga och oberoende människor som kan fortsätta att leva istället för som många av artiklarna visade då det gjordes insatser som ledde till att personerna blev mer bundna till sina anhöriga och sina vårdare.

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Hille, Jan Matthias. « Die Trinukleotid-Expansion des Gens für zelluläre Glutathion-Peroxidase bei Patienten mit sporadischer amyotropher Lateralsklerose ». Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2003. http://dx.doi.org/10.18452/14952.

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Trotz intensiver Forschung ist die Ätiologie der sporadischen amyotrophen Lateralsklerose (sALS) weiterhin unbekannt. Zahlreiche Anzeichen deuten allerdings auf eine Mitbeteiligung von oxidativem Streß an der Pathogenese der sALS hin. So fand sich eine verminderte Aktivität der zellulären Glutathion-Peroxidase (GPX-1), eines als Radikalenfänger fungierenden Enzyms, in den Gyrus praecentrales bei sALS-Patienten. Zusätzliche Studien fanden eine Trinukleotid-Expansion des GGG-repeats im 1. Exon des für die GPX-1 kodierenden Gens. Da Trinukleotid-Expansionen bei einer Vielzahl von neurodegenerativen Erkrankungen wie dem Kennedy-Syndrom und der spinozerebellären Ataxie nachgewiesen werden konnten, war das Ziel dieser Arbeit, eine fragliche Mitbeteiligung dieser Trinkukleotid-Expansion der GPX-1 an der Pathogenese der sALS zu klären. Nach Etablierung der Methode bestehend aus einer Kombination von Polymerase-Kettenreaktion (PCR) und Restriktions-Fragment-Längen-Polymorphismus (RFLP) zeigte sich, dass der Genotyp 4*5 bei einer Gruppe von 231 sALS-Patienten signifikant häufiger vertreten war, wohingegen der Genotyp 5*6 in der Kontrollgruppe signifikant überrepräsentiert war. Im Vergleich zu bisher veröffentlichten Ergebnissen ließ sich der Genotyp 4*4 in der Kontrollgruppe signifikant häufiger nachweisen. Ursache hierfür könnte - neben einem tatsächlich erhöhten Risiko, an sALS zu erkranken - der Zusammenhang mit einem C/T-Polymorphismus der GPX-1 sein, der zu einem Austausch von Prolin zu Leucin führt. Die für Leucin kodierende Variante tritt hierbei nur zusammen mit 5 GCG-repeats auf, während die für Prolin kodierende Variante mit dem Auftreten von 4 und 6 GCG-repeats korreliert.
In spite of intensive research efforts the ethiology of sporadic amyotrophic lateral sclerosis (sALS) remains unknown. Various indices indeed suggest an involvement of oxidative stress in the pathogenesis of sALS. Thus a decreased activity of the cellular glutathione peroxidase (GPX-1) in gyrus praecentrales of sALS patients could be detected, an enzym strongly participating in the clearence of free radicals. Additional studies uncovered a trinucleotid expansion of a GCG repeat in the 1st exon of the gene coding for GPX-1. Such trinucleotid expansions play a major role in a variety of neurodegenerative disorders like the Kennedy Syndrom and spinal-cerebellary ataxia. Goal of this work was to disclose a possible involvement of the GCG expansion in the pathogenesis of sALS. Through the successful establishment of the methodology consisting of a combination of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) we could demonstrate a significant decrease of the genotype 4*5 in a group of 231 sALS patients, whereas the genotype 5*6 was overrepresented in the control group. Compared to hitherto publications we detected an increased occurrence of the 4*4 genotype in the control group. Besides an effective increased risk to contract sALS, the distribution of the GCG-repeat expansion could originate from another C/T polymorphism of GPX-1-gene leading to a substitution of proline with leucine. The leucine coding mutation occurs together with 5 GCG repeats, whereas the proline coding mutant correlates with 4 and 6 GCG-repeats.

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Günther, Rene, Nicole Richter, Anna Sauerbier, Kallol Ray Chaudhuri, Pablo Martinez-Martin, Alexander Storch et Andreas Hermann. « Non-Motor Symptoms in Patients Suffering from Motor Neuron Diseases ». Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2017. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-217311.

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Background The recently postulated “disease spreading hypothesis” has gained much attention, especially for Parkinson’s disease (PD). The various non-motor symptoms (NMS) in neurodegenerative diseases would be much better explained by this hypothesis than by the degeneration of disease-specific cell populations. Motor neuron disease (MND) is primarily known as a group of diseases with a selective loss of motor function. However, recent evidence suggests disease spreading into non-motor brain regions also in MND. The aim of this study was to comprehensively detect NMS in patients suffering from MND. Methods We used a self-rating questionnaire including 30 different items of gastrointestinal, autonomic, neuropsychiatric, and sleep complaints [NMS questionnaire (NMSQuest)], which is an established tool in PD patients. 90 MND patients were included and compared to 96 controls. Results In total, MND patients reported significantly higher NMS scores (median: 7 points) in comparison to controls (median: 4 points). Dribbling, impaired taste/smelling, impaired swallowing, weight loss, loss of interest, sad/blues, falling, and insomnia were significantly more prevalent in MND patients compared to controls. Interestingly, excessive sweating was more reported in the MND group. Correlation analysis revealed an increase of total NMS score with disease progression. Conclusion NMS in MND patients seemed to increase with disease progression, which would fit with the recently postulated “disease spreading hypothesis.” The total NMS score in the MND group significantly exceeded the score for the control group, but only 8 of the 30 single complaints of the NMSQuest were significantly more often reported by MND patients. Dribbling, impaired swallowing, weight loss, and falling could primarily be connected to motor neuron degeneration and declared as motor symptoms in MND.

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Günther, Rene, Nicole Richter, Anna Sauerbier, Kallol Ray Chaudhuri, Pablo Martinez-Martin, Alexander Storch et Andreas Hermann. « Non-Motor Symptoms in Patients Suffering from Motor Neuron Diseases ». Frontiers Research Foundation, 2016. https://tud.qucosa.de/id/qucosa%3A30109.

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Background The recently postulated “disease spreading hypothesis” has gained much attention, especially for Parkinson’s disease (PD). The various non-motor symptoms (NMS) in neurodegenerative diseases would be much better explained by this hypothesis than by the degeneration of disease-specific cell populations. Motor neuron disease (MND) is primarily known as a group of diseases with a selective loss of motor function. However, recent evidence suggests disease spreading into non-motor brain regions also in MND. The aim of this study was to comprehensively detect NMS in patients suffering from MND. Methods We used a self-rating questionnaire including 30 different items of gastrointestinal, autonomic, neuropsychiatric, and sleep complaints [NMS questionnaire (NMSQuest)], which is an established tool in PD patients. 90 MND patients were included and compared to 96 controls. Results In total, MND patients reported significantly higher NMS scores (median: 7 points) in comparison to controls (median: 4 points). Dribbling, impaired taste/smelling, impaired swallowing, weight loss, loss of interest, sad/blues, falling, and insomnia were significantly more prevalent in MND patients compared to controls. Interestingly, excessive sweating was more reported in the MND group. Correlation analysis revealed an increase of total NMS score with disease progression. Conclusion NMS in MND patients seemed to increase with disease progression, which would fit with the recently postulated “disease spreading hypothesis.” The total NMS score in the MND group significantly exceeded the score for the control group, but only 8 of the 30 single complaints of the NMSQuest were significantly more often reported by MND patients. Dribbling, impaired swallowing, weight loss, and falling could primarily be connected to motor neuron degeneration and declared as motor symptoms in MND.

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Cic, Ella, et Camilla Kulmala. « Patienters upplevelse av att leva med ALS : en litteraturöversikt ». Thesis, Sophiahemmet Högskola, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:shh:diva-3764.

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Bakgrund: ALS är en obotlig neurologisk sjukdom som leder till försvagning av muskler efter en nedbrytande process i nervsystemet. Det finns en ärftlig komponent, men i många fall går det inte att fastställa orsaken bakom sjukdomens uppkomst. Att diagnostiseras med en obotlig sjukdom där kroppsliga funktioner avtar samtidigt som de kognitiva förmågorna och känseln består innebär ofta ett stort lidande för patienterna. Att beskriva patienters erfarenheter av sjukdomen kan öka förståelsen och skapa en möjlighet att närma sig lidandet. Syfte: Syftet var att beskriva patienters upplevelse av att leva med ALS. Metod: Studien är en litteraturöversikt som baserades på 15 vetenskapliga artiklar. Dessa återfanns i databaserna Pubmed och CINAHL. Artiklarna granskades med hjälp av Sophiahemmets Högskolas formulär för kvalitetsgranskning och analyserades genom en integrerad analys. Resultat: Ur analysen framträdde tre kategorier: “Upplevelsen av maktlöshet”, “Upplevelsen av att vara en börda” och “Upplevelsen av att anpassa sig till en ny tillvaro”. I resultatet framkom att patienter med ALS upplevde ett lidande som de själva beskrev i olika termer, men likaså återgav de positiva erfarenheter och hur dem utvecklade strategier för att hantera sin nya tillvaro. Slutsats: Denna litteraturöversikt beskriver hur patienter med ALS hanterar sin verklighet, vilket till viss del skiljer sig åt. Lidandet som patienterna upplever kan bli del av personlig utveckling, samtidigt som risken finns att hela livsperspektivet påverkas negativt om patienterna fastnar i lidandet. Sjuksköterskan har en viktig roll i att lindra patienters lidande och litteraturöversikten upplyser om hur ett personcentrerat förhållningssätt, som bland annat innefattar lyhördhet till hur patienterna upplever sin tillvaro, kan bidra till detta.
Background: ALS is an incurable neurological disease that leads to muscle deterioration following a degrading process in the nervous system. There is a hereditary component, but in many cases it is not possible to determine the cause behind the onset of the disease. Being diagnosed with an incurable disease in which bodily functions decline at the same time as the cognitive abilities and tactile sense remains often results in great suffering for the patients. Describing patients' experiences of the disease can increase understanding and create an opportunity to approach suffering. Aim: The aim was to describe patients' experiences of living with ALS. Method: The study is a literature review based on 15 articles. These were found in the databases PubMed and CINAHL. The articles were reviewed with the use of Sophiahemmets Högskola's form for quality review and were analyzed through integrated analysis. Results: From the analysis three categories appeared: “The experience of powerlessness”, “The experience of being a burden” and “The experience of adapting to a new existence”. The results showed that patients with ALS experienced suffering that they themselves described in different terms, but they also portrayed positive experiences and how they developed strategies to manage their new situation. Conclusions: This literature review describes how patients with ALS manage their reality, which differs to some extent. The suffering that the patients experience may be part of personal development, while there is a risk that the entire life perspective will be adversely affected if the patients become stuck in the suffering. The nurse plays an important role in relieving patients suffering and the literature review informs how a person-centered approach, which includes, among other things, responsiveness to how patients experience their lives, can contribute to this.

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Helmersson, Katarina, et Ingrid Järpfält-Svensson. « ALS : Upplevelser av att leva med ALS ». Thesis, Högskolan i Borås, Institutionen för Vårdvetenskap, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:hb:diva-19346.

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Amyotrofisk lateralskleros, ALS, är en obotlig sjukdom som klassas som en neurologisk sjukdom där de motoriska nervcellerna i hjärnan, hjärnstammen och ryggmärgen förtvinar. Sjukdomen kan ha ett hastigt förlopp vilket gör att patienterna är i behov av många hjälpinsatser. Syftet med studien är att öka kunskapen hos sjuksköterskor genom att belysa patienters upplevelser av att leva med ALS. För att beskriva dessa har en kvalitativ innehållsanalys använts. Med hjälp av denna modell fördjupas förståelsen av patienternas upplevelser, erfarenheter och förväntningar av sjukdomen. Följande huvudteman framkom: omgivningens betydelse, existentiella tankar och behov och strategier att hantera sin sjukdom. Faktorer som var betydelsefulla för patienterna var relationer med familj och vänner och att kunna få bibehålla sin integritet och värdighet. Det är viktigt att sjuksköterskor på bästa sätt ökar sin kunskap om patienternas upplevelser för att kunna ge en god omvårdnad under deras sista tid i livet.
Program: Fristående kurs

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Flowers, Joanna Mary. « Molecular studies in amyotrophic lateral sclerosis ». Thesis, King's College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397027.

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Schymick, Jennifer. « The genetics of amyotrophic lateral sclerosis ». Thesis, University of Oxford, 2009. http://ora.ox.ac.uk/objects/uuid:f68f15c2-2875-46ba-bf25-8324c1dead91.

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised clinically by rapidly progressive paralysis leading ultimately to death from respiratory failure. There is no cure for ALS and no definitive explanation for the onset and rapid progression of motor neuron degeneration. Genetics is a known risk factor for a portion of familial cases. However, the role of genetics in the commoner sporadic form of the disease is poorly understood, although numerous genes have been implicated. The primary aim of this thesis project is to uncover the genetic causes that underlie ALS. To accomplish this goal, the main focus of this thesis is to perform genome-wide association analysis of sporadic ALS using high density SNP arrays. This thesis describes the first and the largest genome-wide association studies of ALS to date. Results demonstrate that there is no single large effect susceptibility variant underlying a large proportion of ALS, such as ApoE in Alzheimer’s disease. However, the genotyping data has been made publically available and the digital nature of this data means that it is a resource that can grow with future studies. Beyond genome-wide association, this thesis describes work using linkage, haplotype and sequence analysis to investigate the genetic overlap between ALS and frontotemporal dementia. Lastly, this thesis presents a novel method for linkage analysis using high throughput SNP arrays. Ultimately, it is hoped that by uncovering the genes that cause ALS, such knowledge will shed light on the pathogenic mechanisms underlying motor neuron degeneration and potentially lead to new rational therapies effective in slowing or even halting disease progression.

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Tjust, Anton. « Extraocular Muscles in Amyotrophic Lateral Sclerosis ». Doctoral thesis, Umeå universitet, Anatomi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-129638.

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Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease of motor neurons characterized by muscle paralysis and death within 3-5 years of onset. However, due to unknown mechanisms, the extraocular muscles (EOMs) remain remarkably unaffected. The EOMs are highly specialized muscles that differ from other muscles in many respects, including innervation and satellite cells (SCs). Understanding whether these factors play a role in the relative sparing of EOMs in ALS could provide useful clues on how to slow down the progression of ALS in other muscles. The EOMs and limb muscles from terminal ALS patients and age-matched controls as well as the commonly used SOD1G93A ALS mouse model were studied with immunofluorescence. Antibodies against neurofilament and synaptophysin were used to identify nerves and neuromuscular junctions (NMJs); against Pax7, NCAM, MyoD, myogenin, Ki-67, dystrophin and laminin, to identify SCs and their progeny in EOMs and limb muscles. The proportion and fiber size of myofibers containing myosin heavy chain (MyHC) slow tonic and MyHC slow twitch were also determined in human EOMs. The abundance of SCs differed extensively along the length of control human EOMs, being twice as abundant in the anterior portion. Pax7-positive cells were also detected in non-traditional SC positions. EOMs from terminal ALS patients showed similar numbers of resting and activated SCs as the controls. In limb muscles of ALS patients, the number of resting and activated SCs ranged from low (similar to normal aged, sedentary individuals) to high numbers, especially in muscles with long duration of disease and varied between the upper and lower limbs. The EOMs maintained a high degree of innervation compared to hindlimb muscles of symptomatic SOD1G93A mice. MyHC slow tonic fibers were less abundant in ALS patients than in controls. The change seemed more pronounced in bulbar onset patients, and in this group of subjects only, there was a strong association between decline in MyHC slow tonic fibers and age of death. Notably, the decline in MyHC slow tonic fibers was unrelated to disease duration. Our data suggested that SCs play a minor role in the progression of ALS in general and in the sparing of the EOMs in particular. The generally preserved innervation in the EOMs of G93A mice may reflect distinct intrinsic properties relevant for sparing of the oculomotor system. Even though the EOMs are relatively spared in ALS, MyHC slow tonic myofibers were selectively affected and this may reflect differences in innervation, as these fibers are multiply innervated.
Amyotrofisk lateralskleros (ALS) är en obotlig neurodegenerativ sjukdom som främst påverkar kroppens viljestyrda motoriska nervceller. ALS leder till förlamning, muskelförtvining och slutligen döden genom andningssvikt, vanligen inom tre till fem år efter sjukdomsdebuten. Av okända anledningar så bibehålls ögonmusklernas funktion mycket bättre vid ALS i jämförelse med andra muskler och är hos merparten av patienter i stort sett opåverkade. Ögonmusklerna är mycket specialiserade muskler som skiljer sig från andra muskler i kroppen på flera sätt, bland annat genom deras unika nervförsörjning och genom de satellitceller – muskelspecifika stamceller, som finns i dem. En ökad förståelse för hur dessa faktorer inverkar på ögonmusklernas motståndskraft vid ALS skulle kunna ge värdefulla ledtrådar till hur man skulle kunna sakta ned sjukdomens fortskridande i andra muskler vid ALS. Ögonmuskler och extremitetsmuskler från avlidna ALS-patienter och åldersmatchade friska kontroller, tillsammans med transgena möss med den sjukdomsalstrande mutationen SOD1G93A, studerades genom immunfluorescens och efterföljande mikroskopering. Antikroppar mot molekylerna Pax7, NCAM, MyoD, myogenin, Ki-67, laminin och dystrofin användes för att identifiera satellitceller och deras dotterceller i ögonmuskler och extremitetsmuskler. Antikroppar mot neurofilament och synaptofysin användes för att identifiera nerver och neuromuskulära synapser hos transgena SOD1-möss. Antikroppar mot toniska (tonic) och ryckande (twitch) muskelmyosinkedjor användes för att bestämma proportionen av och storleken på dessa typer av muskelfibrer i ögonmuskler från avlidna ALS-patienter och friska kontroller. Mängden satellitceller varierade mellan de främre och de mer bakre delarna i friska, humana ögonmuskler och var dubbelt så många i den främre delen av muskeln jämfört med den mellersta och bakre delen av muskeln. Celler som uttryckte satellitcellsmarkören Pax7 hittades även i icke-traditionella satellitcellspositioner i ögonmusklerna. Mängden satellitceller i ögonmusklerna från ALS-patienter var samma som hos friska kontroller. I extremitetsmusklerna hos ALS-patienter varierade mängden satellitceller mellan låga nivåer (liknande de hos friska åldrade, inaktiva individer) till höga nivåer, särskilt i muskler där sjukdomen fortskridit under lång tid. Dessutom varierade mängden satellitceller mellan övre och nedre extremiteter. Hos symptomatiska SOD1G93A-möss hade ögonmusklerna en mycket välbevarad innervation jämfört med bakbensmusklerna, där många neuromuskulära synapser saknade kontakt mellan nerven och motorändplattan. Proportionen muskelfibrer med toniska muskelmyosinkedjor var lägre hos ALS-patienter jämfört med friska kontroller. Denna minskning var tydligare hos patienter där sjukdomssymtomen hade debuterat i tugg- och ansiktsmuskulaturen – så kallad bulbär ALS. Dessutom fanns det i den här gruppen, men ingen annan studerad grupp, en stark korrelation mellan nedgången i toniska fibrer och patientens ålder. Värt att notera är att minskningen av toniska muskelfibrer saknade korrelation med hur länge patienten hade varit sjuk i ALS. Den generellt välbevarade innervationen i ögonmusklerna hos SOD1G93A-möss kan spegla distinkta inneboende egenskaper hos ögonmusklerna som är av vikt för bevarandet av ögonrörligheten vid ALS. Gällande satellitceller så antyder våra data att satellitceller och deras regenerativa kapacitet spelar en försumbar roll vid ALS i allmänhet och vid ögonmusklernas bevarande i synnerhet. Slutligen, även om ögonmuskler generellt är välbevarade vid ALS så är toniska muskelfibrer märkbart påverkade och detta kan spegla skillnader mellan olika nervcellsgruppers känslighet vid ALS.

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Thèses sur le sujet « Amyotrophic lateral sclerosis – patients »

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