Relevant bibliographies by topics / FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS

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  2. Dissertations / Theses
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  4. Book chapters
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Academic literature on the topic 'FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS'

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Published: 11 September 2023

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Journal articles on the topic "FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS"

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Eestnes, Arnulf, and Svein Ivar Mellgren. "Familial amyotrophic lateral sclerosis." Acta Neurologica Scandinavica 61, no. 3 (January 29, 2009): 192–99. http://dx.doi.org/10.1111/j.1600-0404.1980.tb01482.x.

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Boylan, Kevin. "Familial Amyotrophic Lateral Sclerosis." Neurologic Clinics 33, no. 4 (November 2015): 807–30. http://dx.doi.org/10.1016/j.ncl.2015.07.001.

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Hand, Collette K., and Guy A. Rouleau. "Familial amyotrophic lateral sclerosis." Muscle & Nerve 25, no. 2 (February 2002): 135–59. http://dx.doi.org/10.1002/mus.10001.

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Millichap, J. Gordon. "Juvenile Familial Amyotrophic Lateral Sclerosis." Pediatric Neurology Briefs 12, no. 7 (July 1, 1998): 56. http://dx.doi.org/10.15844/pedneurbriefs-12-7-15.

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Savinova, A. V., N. A. Shnayder, and R. F. Nasyrova. "Genetics of familial amyotrophic lateral sclerosis." Bulletin of Siberian Medicine 20, no. 3 (October 22, 2021): 193–202. http://dx.doi.org/10.20538/1682-0363-2021-3-193-202.

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To analyze results of the studies covering modern scientific views on the genetics of familial amyotrophic lateral sclerosis (FALS).We searched for full-text publications containing the key words “amyotrophic lateral sclerosis”, “FALS”, and “genetics” in the literature for the past 10 years in both Russian and English in eLibrary, PubMed, Web of Science, and OMIM databases. In addition, the review includes earlier publications of historical interest.This review summarizes all existing information on four most widespread genes associated with FALS: SOD1, TARDBP, FUS, and C9ORF72. The review also describes the functions of these genes and possible pathogenetic mechanisms of motor neuron death in amyotrophic lateral sclerosis (ALS), such as mitochondrial dysfunction, oxidative stress, glutamate excitotoxicity, damage to axonal transport components, and pathological neurofilament aggregation.As modern methods of molecular genetic diagnostics evolve, our knowledge about multifactorial FALS genetics expands. This information should be taken into consideration in clinical practice of neurologists. Information about the genes associated with ALS and understanding of particular pathogenetic mechanisms of the disease play a key role in the development of effective therapeutic strategies.
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Freischmidt, Axel, Kathrin Müller, Lisa Zondler, Patrick Weydt, Alexander E. Volk, Anže Lošdorfer Božič, Michael Walter, et al. "Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers." Brain 137, no. 11 (September 5, 2014): 2938–50. http://dx.doi.org/10.1093/brain/awu249.

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Abstract Knowledge about the nature of pathomolecular alterations preceding onset of symptoms in amyotrophic lateral sclerosis is largely lacking. It could not only pave the way for the discovery of valuable therapeutic targets but might also govern future concepts of pre-manifest disease modifying treatments. MicroRNAs are central regulators of transcriptome plasticity and participate in pathogenic cascades and/or mirror cellular adaptation to insults. We obtained comprehensive expression profiles of microRNAs in the serum of patients with familial amyotrophic lateral sclerosis, asymptomatic mutation carriers and healthy control subjects. We observed a strikingly homogenous microRNA profile in patients with familial amyotrophic lateral sclerosis that was largely independent from the underlying disease gene. Moreover, we identified 24 significantly downregulated microRNAs in pre-manifest amyotrophic lateral sclerosis mutation carriers up to two decades or more before the estimated time window of disease onset; 91.7% of the downregulated microRNAs in mutation carriers overlapped with the patients with familial amyotrophic lateral sclerosis. Bioinformatic analysis revealed a consensus sequence motif present in the vast majority of downregulated microRNAs identified in this study. Our data thus suggest specific common denominators regarding molecular pathogenesis of different amyotrophic lateral sclerosis genes. We describe the earliest pathomolecular alterations in amyotrophic lateral sclerosis mutation carriers known to date, which provide a basis for the discovery of novel therapeutic targets and strongly argue for studies evaluating presymptomatic disease-modifying treatment in amyotrophic lateral sclerosis.
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Brenner, David, Kathrin Müller, Thomas Wieland, Patrick Weydt, Sarah Böhm, Dorothée Lulé, Annemarie Hübers, et al. "NEK1mutations in familial amyotrophic lateral sclerosis." Brain 139, no. 5 (March 5, 2016): e28-e28. http://dx.doi.org/10.1093/brain/aww033.

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Valdmanis, P. N., and G. A. Rouleau. "Genetics of familial amyotrophic lateral sclerosis." Neurology 70, no. 2 (January 7, 2008): 144–52. http://dx.doi.org/10.1212/01.wnl.0000296811.19811.db.

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Fang, Fang, Freya Kamel, Paul Lichtenstein, Rino Bellocco, Pär Sparén, Dale P. Sandler, and Weimin Ye. "Familial aggregation of amyotrophic lateral sclerosis." Annals of Neurology 66, no. 1 (July 2009): 94–99. http://dx.doi.org/10.1002/ana.21580.

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Byrne, Susan, and Orla Hardiman. "Familial aggregation in amyotrophic lateral sclerosis." Annals of Neurology 67, no. 4 (October 2, 2009): 554. http://dx.doi.org/10.1002/ana.21883.

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Dissertations / Theses on the topic "FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS"

1

Gros-Louis, François. "Genetics of familial and sporadic amyotrophic lateral sclerosis." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111859.

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Diseases affecting motor neurons, such as amyotrophic lateral sclerosis (Lou Gerhig's disease), hereditary spastic paraplegia and spinal bulbar muscular atrophy (Kennedy's disease) form a heterogeneous group of chronic progressive diseases and are among the most puzzling yet untreatable illnesses. Over the last decade identification of mutations in genes predisposing to these disorders has provided the means to better understand their pathogenesis. The discovery 13 years ago of SOD1 mutations linked to ALS, which account for less than 2% of all cases, had a major impact in the field. However, despite intensive research effort, the pathways leading to the specific motor neurons degeneration in the presence of SOD1 mutations have not been fully identified. The research projects presented here aim to investigate the role of different cell types and tissues in the pathology of SOD1-linked ALS, and to identify new genetic factors involved in sporadic ALS cases. LoxP transgenic mice expressing mutated G85R SOD1, allowing transgene expression in cell and tissue specific manner, have been successfully generated. However, mice, up to 2.5 years of age, did not develop any motor neuron deficits or any developmental abnormalities. We concluded that this might be due to insufficient level of the transgene expression in our transgenic animals. Also, a number of candidate genes for ALS have been identified, such as ALS2, VEGF, PRPH, CHGA and CHGB, based on their pattern of expression and biological function. These genes have been screened for mutations in a cohort of ALS patients and, we have identified one basepair deletion in the ALS2 and in the PRPH genes, and we have also found a strong genetic association between the CHGA and CHGB genes with ALS. An in-vitro cell transfection approach has been used to investigate the biological effects of mutations within the PRPH genes and, of particular interest, this technique has revealed the first functional variants in a neurofilament associated gene ever describe in ALS.
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Abalkhail, Halah Abdullah. "Characterisation of a new familial amyotrophic lateral sclerosis." Thesis, Imperial College London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.419231.

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3

Gallart, Palau Xavier Ramon. "Synaptic frailty and mitochondrial dysfunction in familial amyotrophic lateral sclerosis." Doctoral thesis, Universitat de Lleida, 2016. http://hdl.handle.net/10803/386410.

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L’Esclerosi Lateral Amiotròfica (ELA) és una malaltia neurodegenerativa de la motoneurona. Totes les neurones del sistema motor es veuen afectades pel flux degeneratiu en aquesta malaltia des de l’escorça motora primària fins a la junta neuromuscular. Al 1993, la descoberta de mutacions en el gen SOD1 va obrir nous horitzons experimentals amb la creació dels primers rosegadors transgènics per aquesta malaltia. Des d’aquell moment i fins a l’actualitat la mutació més estudiada en l’ELA ha estat la SOD1-G93A a tot el món. Els models transgènics per aquesta mutació de la SOD1 han revelat mecanismes essencials de la neurodegeneració en aquesta malaltia incloent l’excitotoxicitat, la disfunció proteica i la degeneració axosinàptica entre altres. En aquest treball hem explorat els canvis moleculars que tenen lloc als terminals-C, uns terminals molt especialitzats en les α-moto neurones, dels rosegadors transgènics SOD1-G93A. A més, també hem focalitzat la nostra atenció a la relació patològica que s’estableix en l’ELA familiar (ELAF) entre la mutació SOD1-G93A i les mitocòndries de les motoneurones. En relació als terminals C en moto neurones durant la ELAF, hem trobat canvis associats a l’aparició dels símptomes com ara expressió incrementada del factor neurotròfic Neuregulina-1 localitzat també per primer cop a la cisterna subsinàptica dels terminals C aposats a les α-moto neurones. La Neuregulina-1 en aquestes estructures de reticle endoplasmàtic va ser observada a dins de vesícules extracel·lulars (VEs), suggerint que l’anàlisi de la Neuregulina-1 en VEs durant ELA és especialment prometedor com a biomarcador potencial en aquesta malaltia. Així nosaltres hem desenvolupat també un nou mètode per tal d’aïllar VEs, donat que aquest és un pas essencial previ a l’estudi de les proteïnes associades amb aquestes estructures. El nostre mètode aplicat a la purificació de VEs en teixits complexos fou capaç de facilitar la identificació de la Neuregulina-1 en VEs provinents de teixits clínics i fluids biològics. En relació a les implicacions de la mitocòndria en la ELA, hem trobat que la mutació SOD1-G93A estabilitza la proteïna PINK1 a la mitocòndria seguidament activant el factor nuclear NFκB en neurones. La interacció seqüencial entre la SOD1 mutant i NFκB crea una clara disfunció en la capacitat proteolítica del proteosoma, el qual promou coagregació de la SOD1 mutant i el PINK1 en aquestes cèl·lules. Aquests resultats afegeixen un substancial coneixement mecanístic sobre els rols de la mitocòndria en els events neurodegeneratius clàssics de l’ELA, com ara en l’agregació de proteïnes disfuncionals en moto neurones. Seguint el nostre estudi de l’afectació mitocondrial en la ELA, hem creat i caracteritzat un nou model de Drosophila que expressa la mutació humana SOD1-G93A exclusivament en fibres musculars toràciques sota el promotor 24B. Aquest model de Drosophila transgènica recapitula amb èxit el fenotip mitocondrial prèviament observat de l’ELA presentant importants avantatges sobretot en l’elecció de nous compostos terapèutics. En definitiva, els resultats generats en aquesta tesi proporcionen evidència experimental, extensa comprensió molecular i insinuen nous horitzons terapèutics sobre els mecanismes moleculars i els events neurodegeneratius associats a la disfunció sinàptica i mitocondrial en l’ELAF.
La Esclerosis Lateral Amiotrófica (ELA) es una enfermedad neurodegenerativa de la motoneurona. Todas las motoneuronas se ven afectadas desde la corteza motora primaria hasta la unión neuromuscular. En 1993 la descubierta de mutaciones en el gen SOD1 abrió nuevos límites experimentales con la creación de los primeros roedores transgénicos para esta enfermedad. Desde ese momento y hasta la actualidad, la mutación más estudiada en la ELA ha sido la mutación SOD1-G93A. Los modelos transgénicos de esta mutación han revelado mecanismos esenciales de la neurodegeneración en la ELA, incluyendo la excitotoxicidad, la disfunción proteica y la degeneración axosináptica entre otras. En este trabajo hemos explorado los cambios moleculares que tienen lugar en los terminales C, unos terminales altamente especializados de las α-motoneuronas, en un modelo murino de ELA con la mutación SOD1-G93A. Además, también hemos focalizado nuestra atención sobre la relación patológica que se establece en la ELA familiar (ELAF) entre la mutación SOD1-G93A y las mitocondrias. En relación a los terminales C durante la ELAF, hemos encontrado cambios asociados con la aparición de síntomas, como por ejemplo el incremento de la expresión del factor neurotrófico Neuregulina-1, localizado por primera vez en la cisterna subsináptica de los terminales C. La Neuregulina-1 en esas estructuras de retículo endoplasmático fue observada dentro de vesículas extracelulares (VEs), sugiriendo que el análisis de la Neuregulina-1 dentro de VEs en la ELA resulta especialmente prometedor como biomarcador potencial para esta enfermedad. Así, nosotros hemos desarrollado también un nuevo método para purificar VEs, dado que este es un paso esencial previo al estudio de las proteínas asociadas con estas estructuras. Nuestro método aplicado a la purificación de VEs de tejidos complejos fue capaz de facilitar la identificación de la Neuregulina en VEs provenientes de tejidos clínicos y fluidos biológicos. En relación a las implicaciones de la mitocondria en la ELA, hemos encontrado que la mutación SOD1-G93A estabiliza la proteína PINK1 en las mitocondrias activando el factor nuclear NFκB en neuronas. La interacción secuencial entre la SOD1 mutante y el NFκB crea una clara disfunción sobre la capacidad proteolítica del proteosoma, la cual a su vez promueve co-agregación de la SOD1 mutante y PINK1 en estas células. Estos resultados suman un sustancial conocimiento mecanístico sobre los roles de la mitocondria en eventos degenerativos clásicos de la ELA, como es la agregación de proteínas disfuncionales en motoneuronas. Siguiendo nuestro estudio de la afectación mitocondrial en la ELA, hemos creado y caracterizado un nuevo modelo de Drosophila que expresa la mutación humana SOD1-G93A en fibras musculares torácicas bajo el promotor 24B. Este modelo de Drosophila transgénica recapitula con éxito en fenotipo mitocondrial característico de la ELA presentando importantes ventajas para la elección de nuevos compuestos terapéuticos. En definitiva, los resultados generados en esta tesis proporcionan evidencia experimental, extensa comprensión molecular y insinúan nuevos horizontes terapéuticos acerca de los mecanismos moleculares y eventos neurodegenerativos asociados con la disfunción sináptica y la disfunción mitocondrial en la ELAF.
Amyotrophic Lateral Sclerosis (ALS) is an orphan age-associated neurodegenerative disease. All motoneurones in ALS are affected by degenerative flow from the primary motor cortex to the neuromuscular junction. In 1993, mutations of the gene SOD1 opened new research avenues allowing for the generation of familial ALS experimental models in rodents. Since then, the FALS mutation SOD1-G93A has been extensively studied worldwide in ALS to date. Transgenic models for this SOD1 mutation have revealed essential mechanisms of neurodegeneration including excitotoxicity, proteinopathy and axosynaptic degeneration among others. In this dissertation, we explored the molecular changes that occur in C-terminals, a very specialised synapse type from α-motoneurones of SOD1-G93A rodents. Also, we focused on the pathological relationship between the FALS mutant SOD1-G93A and mitochondria in motoneurones. With regard to C-terminals in FALS motoneurones, we found changes that were symptomatically associated with the up-regulated expression of the neurotrophic factor Neuregulin-1 located for the first time in the subsurface system of C-boutons juxtaposed to α-motoneurones. Furthermore, Neuregulin-1 in these endoplasmic reticulum structures was observed inside extracellular vesicles, suggesting that analysis of Neuregulin-1 from extracellular vesicles in ALS holds promise as a potential reliable biomarker for that neurodegenerative disease. We therefore have developed a new method for isolation of extracellular vesicles, as this remains as an essential step for the study of molecules associated with these structures. Our method applied to purify extracellular vesicles from complex biological tissues was able to facilitate the identification of Neuregulin-1 in extracellular vessicles from clinical tissues and biological fluids. Regarding implications of mitochondria in ALS, we have found that the FALS mutant hSOD1-G93A stabilises PINK1 in mitochondria and subsequently activates NFκB in neuronal cells. Sequential interaction between hSOD1 and NFκB impairs the proteosome proteolitic function promoting co-aggregation of SOD1 and PINK1 in these cells. These results add substantial mechanistic insight on the roles of mitochondria in classical ALS-associated neurodegenerative events, including aggregation of dysfuntional proteins in motoneurones. Following our study of mitochondria affectation in ALS, we have created and characterised a novel Drosophila model that expresses human SOD1-G93A in thoracic muscles under the genetic muscular promoter 24B. Flies expressing human SOD1-G93A in thoracic muscles successfully recapitulate FALS mitochondrial phenotype with several advantages in front of the current available rodent models for this FALS mutation. Taken together, the results generated in this thesis provide experimental evidence, further molecular comprehension and promise novel therapeutic approaches to the molecular mechanisms and neurodegenerative events associated with synaptic frailty and mitochondrial disfunction in FALS.
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Pramatarova, Albéna. "Role of CuZn superoxide dismutase in familial amyotrophic lateral sclerosis." Thesis, McGill University, 1999. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=36684.

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Amyotrophic lateral sclerosis (ALS) is a late onset neuro-degenerative disorder characterized by highly selective death of large motor neurons in the cerebral cortex and spinal cord. A proportion of the familial cases (FALS) with autosomal dominant transmission was linked to chromosome 21q and the defective gene was shown to be the Cu/Zn superoxide dismutase gene (SOD1). SOD1 is a ubiquitously expressed cytoplasmic metalloenzyme catalyzing the dismutation of the superoxide free radical into hydrogen peroxide and molecular oxygen. We have screened our FALS patients for mutations in the SOD1 gene and found mutations in about 13% of the cases. All but one mutation were single base pair substitutions resulting in amino acid changes (i.e. missense mutations) predicted to produce structurally defective molecules, and some of which significantly reduced the SOD1 enzyme activity in lymphoblasts. We have also identified a two base pairs deletion, which introduces a premature stop codon at position 131 and is predicted to result in the translation of a truncated molecule.
It has been hypothesized that the pathology observed in FALS cases with SOD1 mutations is due to a gain of a new deleterious function of the mutant enzyme and not to a simple loss of dismutase activity. However the exact mechanism of SOD1 toxicity is still unknown and the specificity of the degenerating cell populations remains to be addressed. In this work, we investigated whether the damage seen in ALS with SOD1 mutations results from direct motor neuron toxicity. We have generated transgenic animals carrying a human SOD1 cDNA with the G37R mutation associated with FALS, driven by the neurofilament light chain promoter in order to specifically express the mutant protein in neuronal tissues. We show that transgenic animals express high levels of the human SOD1 protein in neuronal tissues, especially in the spinal cord where the motor neurons are concentrated, but develop no apparent motor deficit at up to 2 years of age. Our animal model suggests that neuron specific expression of mutant human SOD1 might not be sufficient for the development of the disease in mice, and hints towards the involvement of additional yet unidentified cell types/mechanisms.
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Forsberg, Karin. "Misfolded superoxide dismutase-1 in sporadic and familial Amyotrophic Lateral Sclerosis." Doctoral thesis, Umeå universitet, Patologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-47550.

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative syndrome of unknown etiology that most commonly affects people in middle and high age. The hallmark of ALS is a progressive and simultaneous loss of upper and lower motor neurons in the central nervous system that leads to a progressive muscle atrophy, paralysis and death usually by respiratory failure. ALS is not a pure motor neuronal syndrome; it extends beyond the motor system and affects extramotor areas of the brain as well. The majority of the patients suffer from a sporadic ALS disease (SALS) while in at least ten percent the disease appears in a familial form (FALS). Mutations in the gene encoding the antioxidant enzyme superoxide dismutase-1 (SOD1) are the most common cause of FALS. More than 165 SOD1 mutations have been described, and these confer the enzyme a cytotoxic gain of function. Evidence suggests that the toxicity results from structural instability which makes the mutated enzyme prone to misfold and form aggregates in the spinal cord and brain motor neurons. Recent studies indicate that the wild-type human SOD1 protein (wt-hSOD1) has the propensity to develop neurotoxic features. The aim of the present study was to investigate if wt-hSOD1 is involved in the pathogenesis of SALS and FALS patients lacking SOD1 mutations and to evaluate the neurotoxic effect of misfolded wt-hSOD1 protein in vivo by generating a transgenic wt-hSOD1 mice model. We produced specific SOD1-peptide-generated antibodies that could discriminate between the misfolded and native form of the enzyme and optimized a staining protocol for detection of misfolded wt-hSOD1 by immunohistochemistry and confocal microscopy of brain and spinal cord tissue. We discovered that aggregates of misfolded wt-hSOD1 were constitutively present in the cytoplasm of motor neurons in all investigated SALS patients and in FALS patients lacking SOD1 gene mutations. Interestingly, the misfolded wt-hSOD1 aggregates were also found in some motor neuron nuclei and in the nuclei of the surrounding glial cells, mainly astrocytes but also microglia and oligodendrocytes, indicating that misfolded wt-hSOD1 protein aggregates may exert intranuclear toxicity. We compared our findings to FALS with SOD1 mutations by investigating brain and spinal cord tissue from patients homozygous for the D90A SOD1 mutation, a common SOD1 mutation that encodes a stable SOD1 protein with a wild-type-like enzyme activity. We observed a similar morphology with a profound loss of motor neurons and aggregates of misfolded SOD1 in the remaining motor neuron. Interestingly, we found gliosis and microvacuolar degeneration in the superficial lamina of the frontal and temporal lobe, indicating a possible frontotemporal lobar dementia in addition to the ALS disorder. Our morphological and biochemical findings were tested in vivo by generating homozygous transgenic mice that over expressed wt-hSOD1. These mice developed a fatal ALS-like disease, mimicking the one seen in mice expressing mutated hSOD1. The wt-hSOD1 mice showed a slower weight gain compared to non-transgenic mice and developed a progressive ALS-like hind-leg paresis. Aggregates of misfolded wt-hSOD1 were found in the brain and spinal cord neurons similar to those in humans accompanied by a loss of 41 % of motor neurons compared to non-transgenic litter mates. In conclusion, we found misfolded wt-hSOD1 aggregates in the cytoplasm and nuclei of motor neurons and glial cells in all patients suffering from ALS syndrome. Notable is the fact that misfolded wt-hSOD1 aggregates were also detected in FALS patients lacking SOD1 mutations indicating a role for SOD1 even when other genetic mutations are present. The neurotoxicity of misfolded wt-hSOD1 protein was confirmed in vivo by wt-hSOD1 transgenic mice that developed a fatal ALS-like disease. Taken together, our results support the notion that misfolded wt-hSOD1 could be generally involved and play a decisive role in the pathogenesis of all forms of ALS.
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Pramatarova, Albéna. "Role of Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape2/PQDD_0030/NQ64647.pdf.

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Schaldecker, Christina [Verfasser]. "Metabolism in presymptomatic mutation carriers of familial Amyotrophic Lateral Sclerosis / Christina Schaldecker." Ulm : Universität Ulm, 2019. http://d-nb.info/1189734001/34.

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Fujita, Hibiki Kawamata. "Copper, zinc superoxide dismutase and mitochondria : implications for familial amyotrophic lateral sclerosis /." Access full-text from WCMC, 2008. http://proquest.umi.com/pqdweb?did=1619236681&sid=6&Fmt=2&clientId=8424&RQT=309&VName=PQD.

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Wu, Chi-Hong. "Functional Characterization of Novel PFN1 Mutations Causative for Familial Amyotrophic Lateral Sclerosis: A Dissertation." eScholarship@UMMS, 2015. https://escholarship.umassmed.edu/gsbs_diss/815.

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Amyotrophic lateral sclerosis (ALS) is a progressive adult neurodegenerative disease that causes death of both upper and lower motor neurons. Approximately 90 percent of ALS cases are sporadic (SALS), and 10 percent are inherited (FALS). Mutations in the PFN1 gene have been identified as causative for one percent of FALS. PFN1 is a small actin-binding protein that promotes actin polymerization, but how ALS-linked PFN1 mutations affect its cognate functions or acquire gain-of-function toxicity remains largely unknown. To elucidate the contribution of ALS-linked PFN1 mutations to neurodegeneration, we have characterized these mutants in both mammalian cultured cells and Drosophila models. In mammalian neuronal cells, we demonstrate that ALS-linked PFN1 mutants form ubiquitinated aggregates and alter neuronal morphology. We also show that ALS-linked PFN1 mutants have partial loss-of-function effects on actin polymerization in growth cones of mouse primary motor neurons and larval neuromuscular junctions (NMJ) in Drosophila. In Drosophila, we also observe that PFN1 level influences integrity of adult motor neurons, as demonstrated by locomotion, lifespan, and leg NMJ morphology. In sum, the work presented in this dissertation has shed light on PFN1- linked ALS pathogenesis by demonstrating a loss-of-function mechanism. We have also developed a Drosophila PFN1 model that will serve as a valuable tool to further uncover PFN1-associated cellular pathways that mediate motor neuron functions.
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Wu, Chi-Hong. "Functional Characterization of Novel PFN1 Mutations Causative for Familial Amyotrophic Lateral Sclerosis: A Dissertation." eScholarship@UMMS, 2012. http://escholarship.umassmed.edu/gsbs_diss/815.

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Amyotrophic lateral sclerosis (ALS) is a progressive adult neurodegenerative disease that causes death of both upper and lower motor neurons. Approximately 90 percent of ALS cases are sporadic (SALS), and 10 percent are inherited (FALS). Mutations in the PFN1 gene have been identified as causative for one percent of FALS. PFN1 is a small actin-binding protein that promotes actin polymerization, but how ALS-linked PFN1 mutations affect its cognate functions or acquire gain-of-function toxicity remains largely unknown. To elucidate the contribution of ALS-linked PFN1 mutations to neurodegeneration, we have characterized these mutants in both mammalian cultured cells and Drosophila models. In mammalian neuronal cells, we demonstrate that ALS-linked PFN1 mutants form ubiquitinated aggregates and alter neuronal morphology. We also show that ALS-linked PFN1 mutants have partial loss-of-function effects on actin polymerization in growth cones of mouse primary motor neurons and larval neuromuscular junctions (NMJ) in Drosophila. In Drosophila, we also observe that PFN1 level influences integrity of adult motor neurons, as demonstrated by locomotion, lifespan, and leg NMJ morphology. In sum, the work presented in this dissertation has shed light on PFN1- linked ALS pathogenesis by demonstrating a loss-of-function mechanism. We have also developed a Drosophila PFN1 model that will serve as a valuable tool to further uncover PFN1-associated cellular pathways that mediate motor neuron functions.
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Books on the topic "FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS"

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Hiroshi, Mitsumoto, ed. Amyotrophic lateral sclerosis: A guide for patients and families. 3rd ed. New York, NY: Demos Health, 2009.

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Hiroshi, Mitsumoto, and Munsat Theodore L. 1930-, eds. Amyotrophic lateral sclerosis: A guide for patients and families. 2nd ed. New York: Demos, 2001.

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Massachusetts. Bureau of Environmental Health. Environmental Epidemiology Program. The Amyotrophic Lateral Sclerosis (ALS) Disease Registry: Frequently asked questions for patients and families. Boston, Mass.]: Massachusetts Department of Public Health, Bureau of Environmental Health, Environmental Epidemiology Program, 2009.

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Brown, Robert H., Michael Swash, and Piera Pasinelli. Amyotrophic Lateral Sclerosis. 2nd ed. London: CRC Press, 2021. http://dx.doi.org/10.1201/9781003076445.

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Cosi, V., Ann C. Kato, W. Parlette, P. Pinelli, and M. Poloni, eds. Amyotrophic Lateral Sclerosis. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7.

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MD, Brown Robert H., Swash Michael, and Pasinelli Piera, eds. Amyotrophic lateral sclerosis. 2nd ed. Abingdon [England]: Informa Healthcare, 2006.

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National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison, ed. Amyotrophic lateral sclerosis. Bethesda, Md: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, 2000.

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1949-, Chad David A., and Pioro Erik P. 1955-, eds. Amyotrophic lateral sclerosis. Philadelphia: F.A. Davis, 1998.

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Hiroshi, Mitsumoto, Przedborski Serge, and Gordon Paul H, eds. Amyotrophic lateral sclerosis. Boca Raton: Taylor & Francis, 2006.

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Clifford, Rose F., ed. Amyotrophic lateral sclerosis. New York, N.Y: Demos, 1990.

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Book chapters on the topic "FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS"

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Siddique, T., D. Nijhawan, and A. Hentati. "Familial amyotrophic lateral sclerosis." In Advances in Research on Neurodegeneration, 219–33. Vienna: Springer Vienna, 1997. http://dx.doi.org/10.1007/978-3-7091-6844-8_23.

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Brockington, Alice, and Pamela J. Shaw. "Familial motor neuron diseases other than amyotrophic lateral sclerosis." In Amyotrophic Lateral Sclerosis, 141–86. 2nd ed. London: CRC Press, 2021. http://dx.doi.org/10.1201/9781003076445-11.

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Morita, M., and R. H. Brown, Jr. "Familial Amyotrophic Lateral Sclerosis: A Review." In Monographs in Clinical Neuroscience, 177–89. Basel: KARGER, 2000. http://dx.doi.org/10.1159/000061621.

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Norris, F. H., D. Holden, K. Kandal, and E. Stanley. "Home Nursing Care by Families for Severely Paralyzed ALS Patients." In Amyotrophic Lateral Sclerosis, 231–38. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_35.

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Gregoire, N., and G. Serratrice. "Atypical Forms of Familial Amyotrophic Lateral Sclerosis." In Advances in Experimental Medicine and Biology, 159–64. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-5302-7_27.

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Wong, Philip C., David R. Borchelt, Michael K. Lee, Carlos A. Pardo, Gopal Thinakaran, Lee J. Martin, Sangram S. Sisodia, and Donald L. Price. "Familial Amyotrophic Lateral Sclerosis and Alzheimer’s Disease." In Advances in Experimental Medicine and Biology, 145–59. Boston, MA: Springer US, 1998. http://dx.doi.org/10.1007/978-1-4615-4869-0_9.

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Whitson, Lisa J., and P. John Hart. "Copper-Zinc Superoxide Dismutase and Familial Amyotrophic Lateral Sclerosis." In Neurodegenerative Diseases and Metal Ions, 179–205. Chichester, UK: John Wiley & Sons, Ltd, 2006. http://dx.doi.org/10.1002/0470028114.ch8.

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Hart, P. John, and Joan Selverstone Valentine. "Metal-Deficient Copper-Zinc Superoxide Dismutase and Familial Amyotrophic Lateral Sclerosis." In ACS Symposium Series, 348–65. Washington, DC: American Chemical Society, 2005. http://dx.doi.org/10.1021/bk-2005-0903.ch019.

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Winkler, Duane D., Mercedes Prudencio, Celeste Karch, David R. Borchelt, and John Hart. "Copper-Zinc Superoxide Dismutase, Its Copper Chaperone, and Familial Amyotrophic Lateral Sclerosis." In Protein Misfolding Diseases, 381–401. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470572702.ch17.

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Azzouz, Mimoun, Nathalie Leclerc, Mark Gurney, Jean-Marie Warter, Philippe Poindron, and Jacques Borg. "Progressive Motor Neuron Impairment in an Animal Model of Familial Amyotrophic Lateral Sclerosis." In Neurochemistry, 485–90. Boston, MA: Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-5405-9_81.

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Conference papers on the topic "FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS"

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Youn, Clover, and Michael Weiss. "C9orf72-related Familial Amyotrophic Lateral Sclerosis Manifesting as Monomelic Amyotrophy of the Lower Extremity (P10-8.010)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202042.

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Marzocchi, N., S. Severi, M. Pieri, C. Zona, and S. Cavalcanti. "Numerical simulation of motor neuron excitability in a transgenic mouse model of familial amyotrophic lateral sclerosis." In BIOMEDICINE 2005. Southampton, UK: WIT Press, 2005. http://dx.doi.org/10.2495/bio050221.

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Wolmer, Paulo Schneider, Thiago Junqueira Ribeiro de Rezende, Fabrício Castro de Borba, and Marcondes Cavalcante França Junior. "Distinct patterns of cerebellar damage in sporadic and ATXN2- related amyotrophic lateral sclerosis." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.511.

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Introduction: Neurodegeneration in amyotrophic lateral sclerosis (ALS) is not confined to the corticospinal tracts and motor neurons. Some studies have lately suggested that the cerebellum is also involved in the disease. Despite that, it is not yet clear whether cerebellar damage is similar in sporadic (sALS) and specific subtypes of familial ALS. This is particularly relevant for ATXN2-related ALS, because this gene is also known to cause cerebellar ataxia (when fully expanded). Objectives: This study aimed to characterize cerebellar damage in vivo in patients with sporadic ALS and ATXN2-ALS. Methods: Ten patients with ATXN2-ALS, 10 with sALS and 10 controls underwent high resolution T1 magnetic resonance imaging (MRI). Afterwards, we computed the volumes of all cerebellar lobules using the fully automated ACAPULCO tool. Between-group comparisons were then performed for each individual lobule employing linear regression with multiple comparison adjustment. P < 0.05 were considered significant. Disease severity at the time of MRI acquisition was assessed with the ALSFRS scale. Results: Mean age of sALS, ATXN2-ALS and control groups were 61.5 (±10.7), 62.5 (±14.4) and 61.5 (±13. 9), respectively. Both ALS cohorts had similar ALSFRS scores (P = 0.46). Sporadic ALS patients had volumetric reduction at the left VIIIB (P = 0.02), right VIIIB (P = 0.002), left X (P = 0.027) and right X (P = 0.007) lobules relative to controls; and volumetric reduction at the medullary body (P = 0.025) relative to ATXN2-ALS. No volumetric change was found between ATXN2-ALS and controls. Conclusion: Segmental cerebellar atrophy was found in sALS, but not in ATXN2-ALS. This suggests that the mechanisms underlying both disorders may be different.
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Athayde, Natália Merten, Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira, and Alzira Alves de Siqueira Carvalho. "Expansion of the phenotype in ALS19." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.455.

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Context: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects the upper and lower motor neurons. Most cases are sporadic, being 5-10% familial. Currently, more than 20 genes are described as causing familial ALS, with C9ORF72 and SOD1 the most common. Case report: Woman, 42 years old, with progressive weakness in her left foot for 3 years evolving with difficulty walking. No family history. Neurological exam(NE): asymmetric stepagge gait. Asymmetric proximal, distal and axial muscle weakness and distal atrophy. Hyperactive reflexes. EMG: pre-ganglionic lesion in lower limbs with active denervation. Brain MRI: high signal intensity on left corticospinal tract. ALS genetic panel: c.3878G> A, heterozygois in ErbB4(OMIM* 600543). CASE 2: Female, 55 years old, with parkinsonism for 2 years, evolving with muscle weakness, myalgia, dysphonia and dysphagia. After 7 months, respiratory failure and death. Family history: ALS and atypical parkinsonism. NE: Global amyotrophy, facial hypomimia, dropped head, fasciculations on the tongue. Bradykinesia. Plastic hypertonia in the 4 limbs. Proximal and distal weakness. Babinski sign on the right. Oculomotor apraxia. Dysarthrophonia. EMG: pre-ganglionic lesion in the 4 limbs. Brain MRI: global cortical atrophy with temporal predominance. Exome: pathogenic variant, in heterozygosis c. 2428G>A in ErbB4. Conclusion: There are only 3 cases reported in the literature associated to pathogenic variants in this gene. We suggest an expansion of the clinical phenotype for ALS19.
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Albuquerque Filho, José Marcos Vieira de, Natália Merten Athayde, Alzira Alves de Siqueira Carvalho, Igor Braga Farias, Roberta Ismael Lacerda Machado, and Marco Antônio Troccoli Chieia. "Familial ALS Type 25 – A Brazillian Case Serie." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.186.

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Introduction: Familial Amyotrophic Lateral Sclerosis (fALS) represent 5-10% of ALS patients. Different mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) cause Hereditary Spastic Paraplegia Type 10 (HSP10), Charcot-Marie-Tooth 2 (CMT2), Neonatal Intractable Myoclonus and more recently described fALS Type 25. Previous described phenotypes are very similar to the sporadic type, except from the long course of disease. Methods: We describe four Brazillian patients, under clinical follow-up on two Neuromuscular services with genetic diagnosis of fALS25. Results: Four diferent fALS25 are described. Two brothers and two unrelated patients, with distinct features, three males and one female, age range from 72 to 24; age of onset ranged from 62 to 22. The genetic mutations were the following: simple heterozygous pathogenic variant c.1651C>G (p. Leu551Val), simple heterozygous pathogenic variant c.2953G>A (p. Gly985Ser) and pathogenic variant c.484C>T (p.Arg162Trp); all of KIF5A gene (fALS25). Only one patient presented with similar phenoptype and age of onset as sporadic ALS (sALS), the two brothers presented the symptoms at the ages of 28 and 30, the female patient at 22. All patients still walk without assistence after the diagnosis. All patients showed classic superior and inferior motor neuron involvement signs, but one brother had a mild limb ataxia. The three younger patients had MRI with no specific findings, except from subtle cortical atrophy in one brother, and mild vermis and corpus callosum atrophy on the other brother. Only the female patient had negative familiar history. Conclusions: fALS25 should be suspected in patient with fALS and longer course disease. Mutations KIF5A gene must be remembered either in juvenile form of ALS.
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Cambraia, Amanda, Mario Campos Junior, Fernanda Gubert, Juliana Ferreira Vasques, Marli Pernes da Silva Loureiro, Claudio Heitor Gress, José Mauro Bráz de Lima, Rosalia Mendez Otero, and Verônica Marques Zembrzuski. "A novel mutation in the RRM2 domain of TDP-43 in a Brazilian sporadic ALS patient." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.486.

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Introduction: Amyotrophic Lateral Sclerosis (ALS) is an adult-onset progressive and fatal neurodegenerative disease that selectively affects upper and lower motor neurons. Death occurs within 3 to 5 years of onset, usually from respiratory complications. Most cases of ALS are sporadic (SALS), but familial forms of the disease (FALS) represent approximately 10% of the cases. More than 30 genes have been associated with ALS and mutations in these genes account for more than a half of all familial cases and about 10% of sporadic cases. One of the most prevalent genes is TARDBP, responsible for approximately 4-6% of FALS and nearly 1-2% of SALS cases. The aim of this study was to perform the screening of known ALS genes, to increase the knowledge of the mutations that circulate in the population from Rio de Janeiro. Methods: The screening of mutations was performed through the Illumina Next Generation Sequencing (NGS) platform with the use of a sequencing panel that contained the TARDBP, SOD1, FUS, VAPB, SMN1 and SMN2 genes. Results: A novel missense mutation (p.Phe194Leu) in exon 5 of the TARDBP gene was found in a sporadic male patient who died at the age of 58 (2018). The mutation, a TTT/CTT substitution, was not detected in any mutation databases and in the literature. In silico analysis of this variant with different algorithms were performed and the results pointed to a probably damaging impact and that the mutation is disease causing. Conclusion: Through the study of the ALS genes by the NGS, we were able to identify a novel TARDBP mutation in a non-familial ALS patient. In addition, this study also increases the number of known TARDBP mutations in ALS patients and our knowledge of the mutations that affect the patients from of population from Rio de Janeiro.
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Andrade, Isabela Mascarenhas de, and Adriele Ribeiro França Viriato. "Prognostic factors related to mortality in motor neuron disease at an outpatient care center in Salvador (BA)." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.330.

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Introduction: Motor neuron disease is neurodegenerative and the understanding of its prognostic factors is crucial promoting better quality of life for patients. Epidemiological, clinical and nutritional factors have been described as influencing disease progression. Objectives: To describe prognostic factors in patients with Motor Neuron Disease at a specialized outpacient care center in Bahia. Methods: This is an observational, and cross-sectional study, carried out by collecting data from medical records of patients with diagnosis of amyotrophic lateral sclerosis (ALS), using forms to acess epidemiology data, clinical characteristics, and nutritional assessment in the beginning of treatment and the time of assessment. The time from the first symptoms until the application of palliative measures was also recorded. Results: 27 patients were enrolled in the study, 51.8% men and 41.8% women, with an average age of 55±11.1 years at diagnosis. No patients were diagnosed with frontotemporal dementia (FTD) and 3.7% had family history of ALS. Weight loss was observed in 95.8% of patients. Among the elderly population, 9% were classified as low weight at the first evaluation, and 81% were classified as such during data collection. Among the adult population, 8.3% were classified as malnourished at their first evaluation, and 27% during data collection. About 81% of the population used some palliative measure. The time between symptoms these measures were of 32 ± 18.6 months for gastrostomy, 38 ± 41.1 months for AMBU use and 49 ± 43.9 months for BiPAP use. Conclusion: A similar distribution of prognostic factors compared with literature was observed, with some particularities such as earlier age of onset, low prevalence of familial ALS and absence of FTD. Significant weight loss was observed, especially in those with bulbar ALS and in the elderly population, which is associated with a poor prognosis. Time from symptoms to palliative measures varied, but was shorter on average in patients with the bulbar form of the disease.
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Aquino, Letícia, Juliana Victor dos Santos, Jaqueline Donola Scandoleira, Jéssica Elen Gonçalves Nascimento, and Letícia Moraes de Aquino. "Telerehabilitation in Amyotrophic Lateral Sclerosis." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.528.

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Introduction: Amyotrophic Lateral Sclerosis (ALS) is a progressive and degenerative motor disease of the nervous system. Symptoms are variable, the main one being muscle weakness. Treatment is based on medication and monitoring by a multidisciplinary team to maintain quality of life (QoL) and autonomy. There are barriers, like mobility, and telehealth (TH) can be a possibility of care. Objectives: To identify evidence of the use of TH in patients with ALS to improve symptoms and QoL. Design and settings: Study carried out at Centro Universitario São Camilo. Methodology: Literature review in the PubMed, Lilacs and PEDro, between 2011 and 2021, in Portuguese, English or Spanish, with “ALS”, “telemedicine”, “TH”. Results: Of the 14 studies found, 13 were selected after review. The majority (93%) made use of video and telephone calls for monitoring and new orientations, after face-to-face evaluation; but all showed the possibility of remote assessment, associated or no with technological resources (such apps, accelerometers, smartwatches). 31% of the studies reported indication of TH for respiratory care in critically ill patients. In general, 93% of the papers demonstrated that TH brought benefits in maintaining QoL and improving respiratory parameters. Conclusion: Use of TH in patients with ALS seems to be to viable, safe and beneficial for assessment and monitoring, especially in advanced stages and for respiratory symptoms.
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Bentley, Brenda, Moira O’Connor, and Lauren Breen. "Counselling People with Amyotrophic Lateral Sclerosis." In Annual Worldwide Nursing Conference (WNC 2017). Global Science & Technology Forum (GSTF), 2017. http://dx.doi.org/10.5176/2315-4330_wnc17.131.

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Dash, Debadatta, Paul Ferrari, Angel Hernandez, Daragh Heitzman, Sara G. Austin, and Jun Wang. "Neural Speech Decoding for Amyotrophic Lateral Sclerosis." In Interspeech 2020. ISCA: ISCA, 2020. http://dx.doi.org/10.21437/interspeech.2020-3071.

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Reports on the topic "FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS"

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Anklesaria, Pervin. Preclinical Development of Therapeutics for Amyotrophic Lateral Sclerosis. Fort Belvoir, VA: Defense Technical Information Center, October 2009. http://dx.doi.org/10.21236/ada541412.

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Connor, James R. Apo-Ferritin as a Therapeutic Treatment for Amyotrophic Lateral Sclerosis. Fort Belvoir, VA: Defense Technical Information Center, September 2012. http://dx.doi.org/10.21236/ada567828.

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Przedborski, Serge. Neuroprotective Small Molecules for the Treatment of Amyotrophic Lateral Sclerosis. Fort Belvoir, VA: Defense Technical Information Center, September 2012. http://dx.doi.org/10.21236/ada567841.

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Connor, James R. Apo-Ferritin as a Therapeutic Treatment for Amyotrophic Lateral Sclerosis. Fort Belvoir, VA: Defense Technical Information Center, December 2013. http://dx.doi.org/10.21236/ada598852.

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Grill, Raymond J. Targeted Riluzole Delivery by Antioxidant Nanovectors for Treating Amyotrophic Lateral Sclerosis. Fort Belvoir, VA: Defense Technical Information Center, October 2014. http://dx.doi.org/10.21236/ada613439.

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Grill, Raymond J. Targeted Riluzole Delivery by Antioxidant Nanovectors for Treating Amyotrophic Lateral Sclerosis. Fort Belvoir, VA: Defense Technical Information Center, October 2013. http://dx.doi.org/10.21236/ada598451.

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LoGrasso, Philip, and Serge Przedborski. c-jun-N-Terminal Kinase (JNK) for the Treatment of Amyotrophic Lateral Sclerosis. Fort Belvoir, VA: Defense Technical Information Center, October 2013. http://dx.doi.org/10.21236/ada596507.

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Santos, Ana Lúcia Yaeko da Silva, Deyse Mayara Rodrigues Caron, Livia Shirahige, and Abrahão Fontes Baptista. Alterations in Corticomotor Excitability in Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-Analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, May 2023. http://dx.doi.org/10.37766/inplasy2023.5.0078.

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Review question / Objective: To systematically evaluate the utility of TMS to follow up on ALS patients using neurophysiological metrics and to quantify corticomotor excitability compared to sham controls or other neuromuscular diseases. Condition being studied: Amyotrophic Lateral Sclerosis (ALS) is the third most common neurodegenerative disease (BRUNET et al., 2020). The condition is characterized by progressive muscle atrophy due to upper and lower motor neuron death (GOETZ, 2000).
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Wackerman, Brooke L., B. L. Cox, K. L. Grayson, Shari L. Shanklin, and Wilson W. McGriff. Case Series Investigation of Amyotrophic Lateral Sclerosis (ALS) Among Former Kelly Air Force Base Workers. Fort Belvoir, VA: Defense Technical Information Center, April 2005. http://dx.doi.org/10.21236/ada437518.

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Zhu, Qiaochu, Jin Zhou, Hai Huang, Jie Han, Biwei Cao, Dandan Xu, Yan Zhao, and Gang Chen. Risk factors associated with amyotrophic lateral sclerosis: a protocol for systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, September 2022. http://dx.doi.org/10.37766/inplasy2022.9.0118.

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Review question / Objective: To identify and list the risk factors associated with the onset and progression of ALS. Condition being studied: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting the upper and lower motor neurons in the spinal bulb, cerebral cortex, and spinal cord. The clinical processing symptoms accompany muscle atrophy, fasciculation, and fatigue of limbs, which can lead to general paralysis and death from respiratory failure within 3-5 years after the onset of this disease. Though the pathogenesis of ALS is still unclear, exploring the associations between risk factors and ALS can provide reliable evidence to find the pathogenesis in the future. This meta-analysis aims to synthesize all related risk factors on ALS, comprehensively understand this disease, and provide clues to mechanism research and clinicians.
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