Artykuły w czasopismach: „Amyotrophic lateral sclerosis – patients”

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Nakayama, Yui, Satoru Morimoto, Misao Yoneda, Shigeki Kuzuhara i Yasumasa Kokubo. "Cerebrospinal Fluid Biomarkers for Kii Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex". Journal of Neurodegenerative Diseases 2013 (27.03.2013): 1–4. http://dx.doi.org/10.1155/2013/679089.

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Objective. Amyotrophic lateral sclerosis/parkinsonism-dementia complex is classified as one of the tauopathies. Methods. The total tau, phosphorylated tau, and amyloid β42 levels were assayed in cerebrospinal fluid from patients with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex (), Alzheimer’s disease (), Parkinson’s disease (), amyotrophic lateral sclerosis (), and controls () using specific enzyme-linked immunosorbent assay methods. Results. Total tau and phosphorylated tau did not increase and amyloid β42 was relatively reduced in Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex. Relatively reduced amyloid β42 might discriminate Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex from amyotrophic lateral sclerosis and Parkinson’s disease, and the ratios of phosphorylated-tau to amyloid β42 could discriminate Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex from Alzheimer’s disease. Conclusions. Cerebrospinal fluid analysis may be useful to differentiate amyotrophic lateral sclerosis/parkinsonism-dementia complex from Alzheimer’s disease, amyotrophic lateral sclerosis, and Parkinson’s disease.

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Freischmidt, Axel, Kathrin Müller, Lisa Zondler, Patrick Weydt, Alexander E. Volk, Anže Lošdorfer Božič, Michael Walter i in. "Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers". Brain 137, nr 11 (5.09.2014): 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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Voitenkov, Vladislav B., i E. V. Ekusheva. "Pain in amyotrophic lateral sclerosis". Journal of Clinical Practice 10, nr 2 (17.08.2019): 66–73. http://dx.doi.org/10.17816/clinpract10266-73.

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In this review, we discuss different aspects of pain syndrome in patients with amyotrophic lateral sclerosis: etiology, incidence, pathophysiology and main clinical features. Also we review the modern approaches to the treatment of pain in amyotrophic lateral sclerosis. Pain is actually not rare in this condition: it appears in 80% of patients, affecting their quality of life and functional activity, leading to the development of depressive and anxiety disorders. Pain in amyotrophic lateral sclerosis is often overlooked by clinicians, since their attention may focus on the motor symptoms of the disease. Thus, a more careful approach is needed to diagnose and treat pain in amyotrophic lateral sclerosis.

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Li, Lian, Jie Liu i Hua She. "Targeting Macrophage for the Treatment of Amyotrophic Lateral Sclerosis". CNS & Neurological Disorders - Drug Targets 18, nr 5 (23.09.2019): 366–71. http://dx.doi.org/10.2174/1871527318666190409103831.

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Background & Objective: Amyotrophic lateral sclerosis is a progressive neurodegenerative disease that specifically affects motor neurons in the brain and in the spinal cord. Patients with amyotrophic lateral sclerosis usually die from respiratory failure within 3 to 5 years from when the symptoms first appear. Currently, there is no cure for amyotrophic lateral sclerosis. Accumulating evidence suggests that dismantling of neuromuscular junction is an early event in the pathogenesis of amyotrophic lateral sclerosis. Conclusion: It is starting to realized that macrophage malfunction contributes to the disruption of neuromuscular junction. Modulation of macrophage activation states may stabilize neuromuscular junction and provide protection against motor neuron degeneration in amyotrophic lateral sclerosis.

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Ingre, Caroline, Lin Chen, Yiqiang Zhan, Jet Termorshuizen, Li Yin i Fang Fang. "Lipids, apolipoproteins, and prognosis of amyotrophic lateral sclerosis". Neurology 94, nr 17 (27.03.2020): e1835-e1844. http://dx.doi.org/10.1212/wnl.0000000000009322.

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ObjectiveTo determine whether lipids and apolipoproteins predict prognosis of patients with amyotrophic lateral sclerosis in a cohort study of 99 patients with amyotrophic lateral sclerosis who were diagnosed during 2015 to 2018 and followed up until October 31, 2018, at the Neurology Clinic in Karolinska University Hospital in Stockholm, Sweden.MethodsTotal cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein AI, apolipoprotein B, and lipid ratios were measured at the time of amyotrophic lateral sclerosis diagnosis or shortly thereafter. Death after amyotrophic lateral sclerosis diagnosis was used as the main outcome. The Cox model was used to estimate hazard ratios with 95% confidence intervals of death after amyotrophic lateral sclerosis diagnosis, after controlling for sex, age at diagnosis, site of symptom onset, diagnostic delay, body mass index, Amyotrophic Lateral Sclerosis Functional Rating Scale–Revised score, and progression rate.ResultsA 1-SD increase of total cholesterol (hazard ratio 0.60, 95% confidence interval 0.41–0.89, p = 0.01), low-density lipoprotein cholesterol (hazard ratio 0.64, 95% confidence interval 0.44–0.92, p = 0.02), low-density lipoprotein cholesterol/high-density lipoprotein cholesterol ratio (hazard ratio 0.65, 95% confidence interval 0.46–0.92, p = 0.02), apolipoprotein B (hazard ratio 0.62, 95% confidence interval 0.44–0.88, p = 0.01), or apolipoprotein B/apolipoprotein AI ratio (hazard ratio 0.61, 95% confidence interval 0.43–0.86, p < 0.01) was associated with a lower risk of death after amyotrophic lateral sclerosis diagnosis. A dose-response relationship was also noted when these biomarkers were analyzed as categorical variables.ConclusionsLipids and apolipoproteins are important prognostic indicators for amyotrophic lateral sclerosis and should be monitored at the diagnosis of amyotrophic lateral sclerosis.

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Geevasinga, Nimeshan, James Howells, Parvathi Menon, Mehdi van den Bos, Kazumoto Shibuya, José Manuel Matamala, Susanna B. Park, Karen Byth, Matthew C. Kiernan i Steve Vucic. "Amyotrophic lateral sclerosis diagnostic index". Neurology 92, nr 6 (11.01.2019): e536-e547. http://dx.doi.org/10.1212/wnl.0000000000006876.

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ObjectiveThe aim of the study was to assess the utility of a novel amyotrophic lateral sclerosis (ALS) diagnostic index (ALSDI).MethodsA prospective multicenter study was undertaken on patients presenting with suspected ALS. The reference standard (Awaji criteria) was applied to all patients at recruitment. Patients were randomly assigned to a training (75%) and a test (25%) cohort. The ALSDI was developed in the training cohort and its diagnostic utility was subsequently assessed in the test cohort.ResultsA total of 407 patients were recruited, with 305 patients subsequently diagnosed with ALS and 102 with a non-ALS mimicking disorder. The ALSDI reliably differentiated ALS from neuromuscular disorders in the training cohort (area under the curve 0.92, 95% confidence interval 0.89–0.95), with ALSDI ≥4 exhibiting 81.6% sensitivity, 89.6% specificity, and 83.5% diagnostic accuracy. The ALSDI diagnostic utility was confirmed in the test cohort (area under the curve 0.90, 95% confidence interval 0.84–0.97), with ALSDI ≥4 exhibiting 83.3% sensitivity, 84% specificity, and 83.5% diagnostic accuracy. In addition, the diagnostic utility of the ALSDI was confirmed in patients who were Awaji negative at recruitment and in those exhibiting a predominantly lower motor neuron phenotype.ConclusionThe ALSDI reliably differentiates ALS from mimicking disorders at an early stage in the disease process.Classification of evidenceThis study provides Class I evidence that for patients with suspected ALS, the ALSDI distinguished ALS from neuromuscular mimicking disorders.

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Sathasivam, Sivakumar. "Managing patients with amyotrophic lateral sclerosis". European Journal of Internal Medicine 20, nr 4 (lipiec 2009): 355–58. http://dx.doi.org/10.1016/j.ejim.2008.09.002.

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Verhey, F. R. J., F. W. Vreeling i J. Jolles. "Dementia and Amyotrophic Lateral Sclerosis". Acta Neuropsychiatrica 4, nr 1 (marzec 1992): 17–20. http://dx.doi.org/10.1017/s0924270800034967.

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SummaryDementia and Amyotrophic Lateral SclerosisThe case-histories of two patients are presented with Amyo-trofic Lateral Sclerosis and dementia (ALS-D), followed by a discussion of recent literature on this topic. This condition can be considered as the interface between non-Alzheimer frontal lobe dementia and amyotrophic lateral sclerosis. The nosological classification of the ALS-D complex has not been established yet.

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Cividini, Camilla, Silvia Basaia, Edoardo G. Spinelli, Elisa Canu, Veronica Castelnovo, Nilo Riva, Giordano Cecchetti i in. "Amyotrophic Lateral Sclerosis–Frontotemporal Dementia". Neurology 98, nr 4 (1.12.2021): e402-e415. http://dx.doi.org/10.1212/wnl.0000000000013123.

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Background and ObjectivesA significant overlap between amyotrophic lateral sclerosis (ALS) and behavioral variant of frontotemporal dementia (bvFTD) has been observed at clinical, genetic, and pathologic levels. Within this continuum of presentations, the presence of mild cognitive or behavioral symptoms in patients with ALS has been consistently reported, although it is unclear whether this is to be considered a distinct phenotype or rather a natural evolution of ALS. Here, we used mathematical modeling of MRI connectomic data to decipher common and divergent neural correlates across the ALS–frontotemporal dementia (FTD) spectrum.MethodsWe included 83 patients with ALS, 35 patients with bvFTD, and 61 healthy controls, who underwent clinical, cognitive, and MRI assessments. Patients with ALS were classified according to the revised Strong criteria into 54 ALS with only motor deficits (ALS-cn), 21 ALS with cognitive or behavioral involvement (ALS-ci/bi), and 8 ALS with bvFTD (ALS-FTD). First, we assessed the functional and structural connectivity patterns across the ALS-FTD spectrum. Second, we investigated whether and where MRI connectivity alterations of patients with ALS with any degree of cognitive impairment (i.e., ALS-ci/bi and ALS-FTD) resembled more the pattern of damage of one (ALS-cn) or the other end (bvFTD) of the spectrum, moving from group-level to single-subject analysis.ResultsAs compared with controls, extensive structural and functional disruption of the frontotemporal and parietal networks characterized bvFTD (bvFTD-like pattern), while a more focal structural damage within the sensorimotor-basal ganglia areas characterized ALS-cn (ALS-cn-like pattern). ALS-ci/bi patients demonstrated an ALS-cn-like pattern of structural damage, diverging from ALS-cn with similar motor impairment for the presence of enhanced functional connectivity within sensorimotor areas and decreased functional connectivity within the bvFTD-like pattern. On the other hand, patients with ALS-FTD resembled both structurally and functionally the bvFTD-like pattern of damage with, in addition, the structural ALS-cn-like damage in the motor areas.DiscussionOur findings suggest a maladaptive role of functional rearrangements in ALS-ci/bi concomitantly with similar structural alterations compared to ALS-cn, supporting the hypothesis that ALS-ci/bi might be considered as a phenotypic variant of ALS, rather than a consequence of disease worsening.

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Oliveira Filho, Ademar Francisco de, Gêssyca Adryene de Menezes Silva i Débora Milenna Xavier Almeida. "Application of botulinum toxin to treat sialorrhea in amyotrophic lateral sclerosis patients: a literature review". Einstein (São Paulo) 14, nr 3 (wrzesień 2016): 431–34. http://dx.doi.org/10.1590/s1679-45082016rb3594.

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ABSTRACT Amyotrophic lateral sclerosis is a progressive and fatal neurodegenerative disease characterized by the degeneration of motor neurons, which are the central nervous system cells that control voluntary muscle movements. The excessive salivation (sialorrhea) is present in approximately 50% of amyotrophic lateral sclerosis cases. Thus, some alternative therapeutic methods are sought, such as anticholinergic drugs and surgery. Recently the use of botulinum toxin applied at a midpoint of the salivary glands, often guided by ultrasound, have demonstrated positive results. The objective was to review the literature to demonstrate an alternative method to treatments of sialorrhea in patients with amyotrophic lateral sclerosis. In recent studies, the efficacy of botulinum toxin is confirmed, although new applications are required. Since the side effects are negligible, this is an alternative to treat amyotrophic lateral sclerosis, and other patients with diseases that present sialorrhea.

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Moszczynski, Alexander Joseph, Anu Tandon, Fernando Morgadinho Santos Coelho, Lorne Zinman i Brian Murray. "Mortality associated with periodic limb movements during sleep in amyotrophic lateral sclerosis patients". Einstein (São Paulo) 10, nr 4 (grudzień 2012): 428–32. http://dx.doi.org/10.1590/s1679-45082012000400006.

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OBJECTIVE: To describe the prevalence and severity of periodic limb movements during sleep in amyotrophic lateral sclerosis patients and to explore this fact as a predictor of severity of the condition with respect to mortality. METHODS: In this case-control study, questionnaire and polysomnographic data were analyzed from 35 amyotrophic lateral sclerosis patients. Controls were matched by age, genre, and body mass index. A Kaplan-Meier curve was used to compare the survival time of patients with periodic limb movements of sleep index below or above 5. RESULTS: The number of amyotrophic lateral sclerosis patients with an index greater than five was higher than controls (19 (53%) versus 4 (11%); p<0.0001), and the mean index was higher (23.55±40.07 versus 3.28±8.96; p=0.0009). Earlier mortality was more common in patients with more than five periodic limb movements per hour of sleep than patients with less than five periodic limb movements per hour of sleep (7/19 (37%) versus 1/16 (6%); p=0.04) in this group of patients that had a mean survival of 33 months. CONCLUSIONS: There were more periodic limb movements of sleep in amyotrophic lateral sclerosis patients than in the control population. The higher number of these movements in amyotrophic lateral sclerosis patients correlates with disease severity and may suggest poor survival.

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Kumar, Ravi. "Amyotrophic Lateral Sclerosis: Innovative Therapies for ALS under the Pipeline". Neurology & Neurotherapy Open Access Journal 7, nr 1 (2022): 1–9. http://dx.doi.org/10.23880/nnoaj-16000166.

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Over the last 5 decades, a multiple of experimental drugs compounds have been shown to dissuade disease progression in preclinical animal models of amyotrophic lateral sclerosis (ALS) but failed to show any efficacy in human clinical trials or are still waiting for approval under Phase I–III trials. Only 2 main drug compounds are discovered till date and approved by USA Food and Drug Administration for ALS treatment that show better efficacy, effective against ALS progression in early stages and enhances the survival rate of patients. The riluzole is a glutamatergic neurotransmission inhibitor and edaravone is act as an antioxidants. Various clinical trials carried out for ALS treatment but do not show any effective pharmacodynamic and pharmacokinetic data. We required further study on genetics and pathophysiology of ALS that associated with progression of disease. In this review, we focused on pathological aspects and some important drug molecules that participate in clinical trials.

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Ahmed, Shoaib, Amjad Hussain Balouch, Mukhtiar Ali Lakho, Muhammad Munwar Ali, Inayatullah Awan i Safdar Hussain Arain. "Frequency of Dementia in Patients with Amyotrophic Lateral Sclerosis". Pakistan Journal of Medical and Health Sciences 16, nr 6 (29.06.2022): 359–60. http://dx.doi.org/10.53350/pjmhs22166359.

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Objective: To determine the frequency of dementia in patients with amyotrophic lateral sclerosis. Study Design: Cross-sectional study Place and Duration of Study: Department of Neurology, Chandka Medical College Hospital, Larkana Pakistan from 14thJanuary 2019 to 13thJuly 2019. Methodology: One hundred and ten patients were enrolled. Diagnosis was made after patient examination as proposed by memory impairment greater than 1 cognitive-disturbance. Results: The mean age was 54.36±11.12 years and mean duration of disease was 18.46±7.13 months. Sixty seven (61%) were males and 43 (39%) were females. Dementia was found noted in 11 (10%) patients while 99 (90%) was found to benormal. Conclusion: The frequency of dementia in patients with amyotrophic lateral sclerosis was found to considerable. Key words: Amyotrophic lateral sclerosis, Epidemiology, Dementia, Incidence

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Nakai, Michiko, Yugo Narita i Hidekazu Tomimoto. "An Investigation of Perspectives of Respite Admission Among People Living With Amyotrophic Lateral Sclerosis and the Hospitals That Support Them". Journal of Primary Care & Community Health 8, nr 3 (8.03.2017): 163–68. http://dx.doi.org/10.1177/2150131917696940.

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Background: Amyotrophic lateral sclerosis is a progressive disease with rapid degeneration. Respite care is an essential service for improving the well-being of both patients with this disease and their family caregivers, but accessibility of respite services is limited. This study investigates perspectives on respite admission among people living with amyotrophic lateral sclerosis and the hospitals supporting them. Method: We conducted semistructured interviews among 3 patients with amyotrophic lateral sclerosis and 12 family members, exploring demographic information and their awareness and experience of respite admission. We also interviewed 16 representatives from hospitals about awareness of and preparation for respite admission for patients with this disease, the role of regional networks for intractable diseases, and knowledge about communication support schemes. Results: We found significant differences in the revised Amyotrophic Lateral Sclerosis Functional Rating Scale between patients who had and had not received respite admission. Qualitative analysis of the data indicated that respite admission was a contributory factor in continuing and stabilizing home care. Limited provision of social services and hospital care quality were barriers to respite admission. Conclusion: Respite admission was essential to continued home care for patients with amyotrophic lateral sclerosis. Severe-stage patients were eligible for respite admission. Its accessibility, however, was limited, especially for patients living in rural areas. Supporting hospitals had limited capacity to respond to patients’ needs. Individualized care and communication were internal barriers to respite admission.

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Manini, Arianna, Antonia Ratti, Alberto Brusati, Alessio Maranzano, Isabella Fogh, Silvia Peverelli, Stefano Messina i in. "TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis". International Journal of Molecular Sciences 23, nr 16 (17.08.2022): 9276. http://dx.doi.org/10.3390/ijms23169276.

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The transmembrane protein 106B (TMEM106B) gene is a susceptibility factor and disease modifier of frontotemporal dementia, but few studies have investigated its role in amyotrophic lateral sclerosis. The aim of this work was to assess the impact of the TMEM106B rs1990622 (A–major risk allele; G–minor allele) on phenotypic variability of 865 patients with amyotrophic lateral sclerosis. Demographic and clinical features were compared according to genotypes by additive, dominant, and recessive genetic models. Bulbar onset was overrepresented among carriers of the AA risk genotype, together with enhanced upper motor neuron involvement and poorer functional status in patients harboring at least one major risk allele (A). In a subset of 195 patients, we found that the homozygotes for the minor allele (GG) showed lower scores at the Edinburgh Cognitive and Behavioral Amyotrophic Lateral Sclerosis Screen, indicating a more severe cognitive impairment, mainly involving the amyotrophic lateral sclerosis-specific cognitive functions and memory. Moreover, lower motor neuron burden predominated among patients with at least one minor allele (G). Overall, we found that TMEM106B is a disease modifier of amyotrophic lateral sclerosis, whose phenotypic effects encompass both sites of onset and functional status (major risk allele), motor functions (both major risk and minor alleles), and cognition (minor allele).

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Chen, Anton, i C. Gaelyn Garrett. "Otolaryngologic presentations of amyotrophic lateral sclerosis". Otolaryngology–Head and Neck Surgery 132, nr 3 (marzec 2005): 500–504. http://dx.doi.org/10.1016/j.otohns.2004.09.092.

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OBJECTIVES/HYPOTHESIS: To determine the incidence of voice disturbance as a presenting symptom of amyotrophic lateral sclerosis (ALS) and describe laryngologic features of ALS. STUDY DESIGN: Retrospective review. METHODS: Records of patients with voice disturbance at a voice center and ALS patients at a neurology clinic were reviewed from January 1998 to March 2003. RESULTS: 15 of 1759 patients with voice disturbance were later diagnosed with ALS. Of 220 ALS patients presenting to neurology clinic, 44 had bulbar symptoms and 19 had initially presented to an otolaryngologist. Dysarthria, dysphagia, tongue fasciculation, and incomplete vocal fold closure were common findings. Neuromuscular disease was missed in 8 of 19 ALS patients seen by an otolaryngologist. CONCLUSIONS: Although otolaryngologists rarely encounter undiagnosed ALS patients, a significant portion of bulbar ALS patients are initially evaluated by otolaryngologists. SIGNIFICANCE: Vigilance for neuromuscular abnormalities on otolaryngologic exam is important in patients who present with dysarthria, dysphonia, or dysphagia. EBM rating: C.

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Oprisan, Alexandra L., i Bogdan Ovidiu Popescu. "Dysautonomia in Amyotrophic Lateral Sclerosis". International Journal of Molecular Sciences 24, nr 19 (5.10.2023): 14927. http://dx.doi.org/10.3390/ijms241914927.

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, characterized in its typical presentation by a combination of lower and upper motor neuron symptoms, with a progressive course and fatal outcome. Due to increased recognition of the non-motor symptoms, it is currently considered a multisystem disorder with great heterogeneity, regarding genetical, clinical, and neuropathological features. Often underestimated, autonomic signs and symptoms have been described in patients with ALS, and various method analyses have been used to assess autonomic nervous system involvement. The aim of this paper is to offer a narrative literature review on autonomic disturbances in ALS, based on the scarce data available to date.

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Martins, Melina Pazian, Fabrício Diniz de Lima, Tauana Bernardes Leoni, Alberto R. M. Martinez, Agricio Nubiato Crespo, Paulo André Teixeira Kimaid, Anamarli Nucci, Mamede de Carvalho i Marcondes C. França Jr. "Laryngeal electromyography in amyotrophic lateral sclerosis". Journal of Neurology, Neurosurgery & Psychiatry 91, nr 7 (21.04.2020): 730–32. http://dx.doi.org/10.1136/jnnp-2020-322910.

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BackgroundBulbar involvement is a hallmark of amyotrophic lateral sclerosis (ALS), but surprisingly very few studies have addressed the frequency, pattern and clinical relevance of laryngeal involvement in the disease.MethodsTwenty-six patients with spinal-onset ALS underwent nasofibroscopy (NF), followed by laryngeal electromyography (LEMG). We also studied resting activity and motor unit potentials of the genioglossus and masseter muscles.ResultsTwenty-four patients presented neurogenic changes in at least one laryngeal muscle. There were fibrillation and/or fasciculation potentials associated with chronic neurogenic changes in the same muscle in 16 patients; of these, 9 had no alteration in the genioglossus. We found no patient with tongue neurogenic changes and normal LEMG. NF was abnormal in 14 patients; in the remaining 12, LEMG identified neurogenic changes in 11 of them.ConclusionLEMG is able to identify laryngeal denervation in patients with ALS, sometimes before clinical manifestations are noticed. This technique may be a useful diagnostic tool for selected patients with suspicion of ALS.

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Calvo, Andrea, Paolo Ghiglione i Adriano Chiò. "Management of patients with amyotrophic lateral sclerosis". Clinical Management Issues 2, nr 3 (15.09.2008): 103–11. http://dx.doi.org/10.7175/cmi.v2i3.567.

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Amyotrophic lateral sclerosis (ALS) is a progressive, fatal, neurodegenerative disease caused by the degeneration of motor neurons. We report a case of a 45-years-old patient with ALS to underline difficulties and challenges in ALS management. Even though ALS remains fatal, several advances have been made in improving the consequences of this disease: symptomatic treatments have an important role in controlling sialorrhea, bronchial secretions, pseudobulbar emotional lability, cramps, spasticity, depression and anxiety, insomnia and pain. An adequate management of ALS should be multidisciplinar, involving not only the neurologist, but also family physicians and many other specialists, such as pulmonologist, rehabilitation medicine physician, speech therapist, dietitian and psychologist. The multidisciplinary approach should be aimed at relieving specific problems associated with the disability of single patients and improving their quality of life.

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Yang, Li-Peng, i Dong-Sheng Fan. "Diets for Patients with Amyotrophic Lateral Sclerosis". Chinese Medical Journal 130, nr 15 (sierpień 2017): 1765–67. http://dx.doi.org/10.4103/0366-6999.211549.

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Fang, Fang, Unnur Valdimarsdóttir, Carl Johan Fürst, Christina Hultman, Katja Fall, Pär Sparén i Weimin Ye. "Suicide among patients with amyotrophic lateral sclerosis". Brain 131, nr 10 (22.07.2008): 2729–33. http://dx.doi.org/10.1093/brain/awn161.

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Líška, Dávid, i David Brünn. "Neurorehabilitation in patients with amyotrophic lateral sclerosis". Česká a slovenská neurologie a neurochirurgie 83/116, nr 5 (31.10.2020): 504–7. http://dx.doi.org/10.14735/amcsnn2020504.

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Lomen-Hoerth, C., J. Murphy, S. Langmore, J. H. Kramer, R. K. Olney i B. Miller. "Are amyotrophic lateral sclerosis patients cognitively normal?" Neurology 60, nr 7 (8.04.2003): 1094–97. http://dx.doi.org/10.1212/01.wnl.0000055861.95202.8d.

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Likhachev, S. A., Yu N. Rushkevich, I. S. Abelskaia, N. M. Chechik i O. V. Merkul. "Polysomnography in patients with amyotrophic lateral sclerosis". Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 116, nr 4 (2016): 37. http://dx.doi.org/10.17116/jnevro20161164137-41.

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Lange, D. J., P. L. Murphy, R. A. Maxfield, A. M. Skarvala i G. Riedel. "Management of Patients with Amyotrophic Lateral Sclerosis". Neurorehabilitation and Neural Repair 8, nr 2 (1.01.1994): 75–82. http://dx.doi.org/10.1177/136140969400800204.

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Pinto, Susana, i Mamede de Carvalho. "Amyotrophic lateral sclerosis patients and ocular ptosis". Clinical Neurology and Neurosurgery 110, nr 2 (luty 2008): 168–70. http://dx.doi.org/10.1016/j.clineuro.2007.08.022.

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Hetta, Jerker, i Ingela Jansson. "Sleep in patients with amyotrophic lateral sclerosis". Journal of Neurology 244, S1 (kwiecień 1997): S7—S9. http://dx.doi.org/10.1007/bf03160565.

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Conterato, Marc R. "Misdiagnosis in patients with amyotrophic lateral sclerosis". Journal of Emergency Medicine 9, nr 6 (listopad 1991): 538–39. http://dx.doi.org/10.1016/0736-4679(91)90285-n.

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Belsh, J. M. "Misdiagnosis in patients with amyotrophic lateral sclerosis". Archives of Internal Medicine 150, nr 11 (1.11.1990): 2301–5. http://dx.doi.org/10.1001/archinte.150.11.2301.

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Belsh, Jerry M. "Misdiagnosis in Patients With Amyotrophic Lateral Sclerosis". Archives of Internal Medicine 150, nr 11 (1.11.1990): 2301. http://dx.doi.org/10.1001/archinte.1990.00390220055011.

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Vigliani, Maria Claudia, Patrizia Polo, Adriano Chi�, Bruno Giometto, Davide Schiffer i Letizia Mazzini. "Patients with amyotrophic lateral sclerosis and cancer do not differ clinically from patients with sporadic amyotrophic lateral sclerosis". Journal of Neurology 247, nr 10 (30.10.2000): 778–82. http://dx.doi.org/10.1007/s004150070092.

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Roggenbuck, Jennifer, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury i Jonathan D. Glass. "Amyotrophic Lateral Sclerosis Genetic Access Program". Neurology Genetics 7, nr 5 (10.08.2021): e615. http://dx.doi.org/10.1212/nxg.0000000000000615.

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ObjectiveTo report the frequency of amyotrophic lateral sclerosis (ALS) genetic variants in a nationwide cohort of clinic-based patients with ALS with a family history of ALS (fALS), dementia (dALS), or both ALS and dementia (fALS/dALS).MethodsA multicenter, prospective cohort of 573 patients with fALS, dALS, or fALS/dALS, underwent genetic testing in the ALS Genetic Access Program (ALS GAP), a clinical program for clinics of the Northeast ALS Consortium. Patients with dALS underwent C9orf72 hexanucleotide repeat expansion (HRE) testing; those with fALS or fALS/dALS underwent C9orf72 HRE testing, followed by sequencing of SOD1, FUS, TARDBP, TBK1, and VCP.ResultsA pathogenic (P) or likely pathogenic (LP) variant was identified in 171/573 (30%) of program participants. About half of patients with fALS or fALS/dALS (138/301, 45.8%) had either a C9orf72 HRE or a P or LP variant identified in SOD1, FUS, TARDBP, TBK1, or VCP. The use of a targeted, 5-gene sequencing panel resulted in far fewer uncertain test outcomes in familial cases compared with larger panels used in other in clinic-based cohorts. Among dALS cases 11.8% (32/270) were found to have the C9orf72 HRE. Patients of non-Caucasian geoancestry were less likely to test positive for the C9orf72 HRE, but were more likely to test positive on panel testing, compared with those of Caucasian ancestry.ConclusionsThe ALS GAP program provided a genetic diagnosis to ∼1 in 3 participants and may serve as a model for clinical genetic testing in ALS.

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Dilliott, Allison A., Catherine M. Andary, Meaghan Stoltz, Andrey A. Petropavlovskiy, Sali M. K. Farhan i Martin L. Duennwald. "DnaJC7 in Amyotrophic Lateral Sclerosis". International Journal of Molecular Sciences 23, nr 8 (7.04.2022): 4076. http://dx.doi.org/10.3390/ijms23084076.

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Protein misfolding is a common basis of many neurodegenerative diseases including amyotrophic lateral sclerosis (ALS). Misfolded proteins, such as TDP-43, FUS, Matrin3, and SOD1, mislocalize and form the hallmark cytoplasmic and nuclear inclusions in neurons of ALS patients. Cellular protein quality control prevents protein misfolding under normal conditions and, particularly, when cells experience protein folding stress due to the fact of increased levels of reactive oxygen species, genetic mutations, or aging. Molecular chaperones can prevent protein misfolding, refold misfolded proteins, or triage misfolded proteins for degradation by the ubiquitin–proteasome system or autophagy. DnaJC7 is an evolutionarily conserved molecular chaperone that contains both a J-domain for the interaction with Hsp70s and tetratricopeptide domains for interaction with Hsp90, thus joining these two major chaperones’ machines. Genetic analyses reveal that pathogenic variants in the gene encoding DnaJC7 cause familial and sporadic ALS. Yet, the underlying ALS-associated molecular pathophysiology and many basic features of DnaJC7 function remain largely unexplored. Here, we review aspects of DnaJC7 expression, interaction, and function to propose a loss-of-function mechanism by which pathogenic variants in DNAJC7 contribute to defects in DnaJC7-mediated chaperoning that might ultimately contribute to neurodegeneration in ALS.

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Sauter, W. F., G. Bush i J. Sommerville. "A single case study: myoelectrically controlled exoskeletal mobilizer for amyotrophic lateral sclerosis (ALS) patients". Prosthetics and Orthotics International 13, nr 3 (grudzień 1989): 145–48. http://dx.doi.org/10.3109/03093648909079423.

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Introduction and clinical pathology of Amyotrophic Lateral Sclerosis (ALS) Amyotrophic Lateral Sclerosis (ALS) also known as Lou Gehrig's disease is the generic name for progressive muscular atrophy and bulbar palsy. It refers to all disorders of the cortico spinal pathways which are characterized by progressive muscle weakness. After multiple sclerosis, ALS is the most common purely neurological disorder (Janiszewski et al. 1983). Information available from the ALS Society indicates that the most common age of onset is 55 years.

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Srivastava, Ojas, Chris Hanstock, Sneha Chenji, Dennell Mah, Dean Eurich, Daniel Ta, Peter Seres i in. "Cerebral degeneration in amyotrophic lateral sclerosis". Neurology: Clinical Practice 9, nr 5 (5.06.2019): 400–407. http://dx.doi.org/10.1212/cpj.0000000000000674.

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BackgroundWe investigated cerebral degeneration and neurochemistry in patients with amyotrophic lateral sclerosis (ALS) using magnetic resonance spectroscopy (MRS).MethodsWe prospectively studied 65 patients and 43 age-matched healthy controls. Participants were recruited from 4 centers as part of a study in the Canadian ALS Neuroimaging Consortium. All participants underwent single-voxel proton MRS using a protocol standardized across all sites. Metabolites reflecting neuronal integrity (total N-acetyl aspartyl moieties [tNAA]) and gliosis (myo-inositol [Ino]), as well as creatine (Cr) and choline (Cho), were quantified in the midline motor cortex and midline prefrontal cortex. Comparisons were made between patients with ALS and healthy controls. Metabolites were correlated with clinical measures of upper motor neuron dysfunction, disease progression rate, and cognitive performance.ResultsIn the motor cortex, tNAA/Cr, tNAA/Cho, and tNAA/Ino ratios were reduced in the ALS group compared with controls. Group differences in tNAA/Cr and tNAA/Cho in the prefrontal cortex displayed reduced ratios in ALS patients; however, these were not statistically significant. Reduced motor cortex ratios were associated with slower foot tapping rate, whereas only motor tNAA/Ino was associated with finger tapping rate. Disease progression rate was associated with motor tNAA/Cho. Verbal fluency, semantic fluency, and digit span forwards and backwards were associated with prefrontal tNAA/Cr.ConclusionsThis study demonstrates that cerebral degeneration in ALS is more pronounced in the motor than prefrontal cortex, that multicenter MRS studies are feasible, and that motor tNAA/Ino shows promise as a potential biomarker.

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Kutlubaev, M. A., D. K. Areprintceva, E. V. Pervushina i L. V. Brylev. "Cognitive disorders in amyotrophic lateral sclerosis". Neurology, Neuropsychiatry, Psychosomatics 15, nr 2 (30.04.2023): 68–74. http://dx.doi.org/10.14412/2074-2711-2023-2-68-74.

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Cognitive disorders (CD) are observed in more than half of patients with amyotrophic lateral sclerosis (ALS), but rarely reach the degree of dementia. Currently, a classification of ALS has been proposed depending on the presence of cognitive and/or behavioral disorders. CD in ALS can be represented by speech fluency disorders, various aphasic disorders, disorders of regulatory functions, social cognitive functions, and verbal memory. The most diagnostically sensitive are special scales, such as the Edinburgh Cognitive and Behavioral Impairment Screening Scale for ALS. CD in ALS have a negative impact on the outcome of the disease and the quality of life of patients and their families. This issue requires further study.

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Zwicker, Jocelyn, Danial Qureshi, Robert Talarico, Pierre Bourque, Mary Scott, Nicolas Chin-Yee i Peter Tanuseputro. "Dying of amyotrophic lateral sclerosis". Neurology 93, nr 23 (31.10.2019): e2083-e2093. http://dx.doi.org/10.1212/wnl.0000000000008582.

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ObjectiveTo describe health care service utilization and cost for decedents with and without amyotrophic lateral sclerosis (ALS) in the last year of life.MethodsUsing linked health administrative data, we conducted a retrospective, population-based cohort study of Ontario, Canada, decedents from 2013 to 2015. We examined demographic data, rate of utilization, and cost of health care services in the last year of life.ResultsWe identified 283,096 decedents in Ontario, of whom 1,212 (0.42%) had ALS. Decedents with ALS spent 3 times as many days in an intensive care unit (ICU) (mean 6.3 vs 2.1, p < 0.001), and twice as many days using complex continuing care (mean 12.7 vs 6.0, p < 0.001) and home care (mean 99.1 vs 41.3, p < 0.001). A greater percentage of decedents with ALS received palliative home care (44% vs 20%, p < 0.001) and palliative physician home visits (40% vs 18%, p < 0.001) than decedents without ALS. Among decedents with ALS, a palliative physician home visit in the last year of life was associated with reduced adjusted odds of dying in hospital (odds ratio 0.65, 95% confidence interval 0.48–0.89) and fewer days spent in the ICU. Mean cost of care in the last year of life was greater for those with ALS ($68,311.98 vs $55,773.48, p < 0.001).ConclusionsIn this large population-based cohort of decedents, individuals with ALS spent more days in the ICU, received more community-based services, and incurred higher costs of care in the last year of life. A palliative care physician home visit was associated with improved end of life outcomes; however, the majority of patients with ALS did not access such services.

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Vosoughi, Reza, i Mark S. Freedman. "Case Report: Multiple Sclerosis and Amyotrophic Lateral Sclerosis". International Journal of MS Care 12, nr 3 (1.01.2010): 142–45. http://dx.doi.org/10.7224/1537-2073-12.3.142.

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We present a case of concurrent multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS). Five other similar cases that have been reported in the literature are also reviewed. This rare and interesting case illustrates the importance of careful follow-up of patients with MS to avoid attributing every new neurologic symptom to the previously diagnosed disease and the maintenance of suspicion for unrelated emerging diseases.

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Fernández, Gloria Lara. "Neurodegenerative Disorders Tendency in Adult Cuban Population". Journal of Quality in Health Care & Economics 5, nr 5 (2022): 1–10. http://dx.doi.org/10.23880/jqhe-16000300.

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Introduction: Neurodegenerative diseases have a multifactorial etiology, based on genetics and triggering environmental factors, associated with the aging process of the population. Objectives: To describe the mortality and trend of Amyotrophic Lateral Sclerosis, Alzheimer's dementia and Parkinson's disease in Cuba and other countries during the period from 2015 to 2020. Methods Longitudinal descriptive observational study was carried out, which it classifies as chronological or temporal series, on mortality and behavioral trend of Amyotrophic Lateral Sclerosis, Alzheimer's disease and Parkinson's disease in Cuba, during the period 2015 to 2020. Results: The data obtained show that Alzheimer's disease has a tendency to decrease mortality, unlike Parkinson's disease that is observed a slight increase, while in Amyotrophic Lateral Sclerosis the behavior is stable. Deaths in Parkinson's and Alzheimer's disease occurred between 75-79 years of age, while in Amyotrophic Lateral Sclerosis it was 65-69 years old. There was predominance of the male sex in Parkinson's and Amyotrophic Lateral Sclerosis. Women predominated in Alzheimer's disease. The three neurodegenerative diseases occurred in patients with white skin color. The highest number of deaths were shown in the provinces of Havana and Holguín. Conclusions: The prevalence and incidence of dementia and Alzheimer's disease increases exponentially, in relation with Parkinson´s disease the incidence vary widely throughout the world and the most significant risk factors are aging and men. Finally, the prevalence of Amyotrophic Lateral Sclerosis remains low due to high mortality, due to the lack of effective treatment at present.

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Fawad, Laiba, i Mehrab Tahir. "Emerging Therapies in Amyotrophic Lateral Sclerosis". Molecular Medicine Communications 2, nr 01 (30.06.2022): 31–42. http://dx.doi.org/10.55627/mmc.002.001.0041.

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the loss of cortical and spinal motor neurons, leading to weakness, muscle atrophy, and, in a substantial number of patients, cognitive impairment. Most patients die within 2 to 5 years of diagnosis. The disease initiates from the death of upper and lower motor neurons leading to a degeneration of motor pathways and the paralytic effects of the disease. The disease has huge economic costs as well. FDA has approved two drugs, riluzole, and edaravone for the treatment of ALS. However, these drugs provide modest benefits in mortality and/or function. Recent developments in the understanding of the underlying pathophysiologic processes that contribute to ALS have led to the development of numerous investigational therapies, with several now in phase 3 trials. This article highlights the epidemiology, pathophysiology, and several current and emerging treatment options for ALS including stem cell therapy.

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Lulé, Dorothée. "Neuroimaging Advances in Amyotrophic Lateral Sclerosis". European Neurological Review 5, nr 2 (2010): 54. http://dx.doi.org/10.17925/enr.2010.05.02.54.

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The development of non-invasive functional imaging techniques has allowed neuroscientists to investigate the physiological parameters of the clinical features of amyotrophic lateral sclerosis (ALS), a severe neurological disease. Modern neuroimaging techniques enable anatomy and function to be connectedin vivowith an acceptable balance between low patient load and high information capacity, making them ideal for clinical research in patients with physical restrictions, such as those with ALS. Structural imaging techniques in ALS include T1/T2-weighted structural magnetic resonance imaging, diffusion tensor imaging and voxel-based morphometry. Functional neuroimaging enables the acquisition of dynamic cortical function either in a passive (or resting) state or via active paradigms. The main technique used is functional magnetic resonance imaging. Structural and functional neuroimaging has provided evidence of alterations in motor and non-motor cortical pathways in ALS. In the future, neuroimaging may provide early diagnostic criteria to support the clinical diagnosis of ALS, help us to understand the aetiological background of the disease and pave the way for a new viewpoint on the functional capacities of these patients, which may have a major impact on our way of thinking about end-of-life decisions.

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Bakulin, I. S., R. N. Konovalov, M. V. Krotenkova, N. A. Suponeva i M. N. Zakharova. "Voxel-based morphometry in amyotrophic lateral sclerosis". Journal of radiology and nuclear medicine 99, nr 6 (2.01.2019): 287–94. http://dx.doi.org/10.20862/0042-4676-2018-99-6-287-294.

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Objective:to investigate changes in grey matter volume in patients with classical amyotrophic lateral sclerosis (ALS) and lower motor neuron syndrome (LMNS) with voxel-based morphometry (VBM).Material and methods. 30 patients with classical ALS, 22 patients with LMNS and 23 age and gender matched healthy controls were enrolled in this study. All participants underwent a T1MPR (multiplanar reconstruction) magnetic resonance imaging with post-processing included spatial normalization, segmentation and smoothing. VBM was used to investigate changes in grey matter volume across the groups.Results. There was a significant decrease in grey matter volume of middle part of left pre- and postcentral gyri, middle part of right precentral gyrus, right and left occipital lobes in patients with classical ALS compared to healthy subjects. There was no difference in grey matter volume between patients with LMNS and healthy controls. Patients with classical ALS showed a significant decrease in grey matter volume of middle part of left preand postcentral gyri, upper part of left precentral gyrus, middle and upper parts of right precentral gyrus, right and left occipital lobes compared to patients with LMNS. There was no significant correlation between grey matter volume and clinical findings in patients with ALS and LMNS.Conclusion.VBM reveals a decrease in grey matter volume of motor and nonmotor brain regions in patients with classical ALS, but not in patients with LMNS.

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Platova, Yu A., i N. O. Zharinova. "MODERN DIAGNOSTICS OF AMYOTROPHIC LATERAL SCLEROSIS". Ulyanovsk Medico-biological Journal, nr 2 (15.07.2020): 8–20. http://dx.doi.org/10.34014/2227-1848-2020-2-8-20.

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The purpose of this review is to systematize data on the diagnostics of amyotrophic lateral sclerosis (ALS), taking into account international practices in the application of various methods and their efficacy evaluation. For practical application research methods are divided into separate groups. Information from electronic libraries Pubmed, eLIBRARY and Elsiever was used as reference sources. Electromyography (EMG) is still the main method used in ALS diagnostics. It can be effectively combined with other tests. The combined use of ultrasound and EMG increases the number of patients with a reliably detected ALS. MRI allows the differential diagnosis of ALS with diseases that can feign the illness. Co-use of various neuroimaging methods can increase the accuracy of ALS diagnostics up to 90 %. The major part of sporadic and familial morbidity is associated with SOD1, C9orf72, TARDBP (TDP-43), and FUS gene mutations. There is still no consensus what mutations should be tested in patients during ALS diagnostics. A series of biochemical analyzes and tests for autoimmune diseases during ALS diagnostics is necessary for proper differential exclusion. Liquor test can be used to assess the neurofilament level and it is also an auxiliary method to diagnose and assess the disease development. Tissue biopsy, as an ALS diagnostic method, is rarely used due to its invasiveness; it is mainly administered in case of atypical symptoms. A promising method in ALS diagnostics is transcranial magnetic stimulation, which allows to fasten the diagnosis. However, at present this procedure is not included in the diagnostic criteria for ALS.Evaluation of respiratory and speech functions is necessary both in diagnosis and management of ALS patients. Thus, ALS patients require a multidisciplinary approach and combined diagnostic techniques for timely diagnosis. Keywords: amyotrophic lateral sclerosis, motor neuron disease, neurodegeneration, neuroimaging, electromyography, ALS diagnostics. Целью данного обзора является систематизация данных по диагностике бокового амиотрофического склероза (БАС) с учетом мирового опыта применения различных методов и оценка их эффективности. Методы исследований для удобства практического применения разбиты в статье на отдельные группы. В качестве источников информации использовались данные электронных библиотек Pubmed, eLIBRARY и Elsiever. Основным методом, применяемым в диагностике БАС, по-прежнему остается ЭМГ, которая может эффективно сочетаться с другими диагностическими процедурами. Совместное применение УЗИ и ЭМГ повышает число пациентов с достоверно установленным диагнозом БАС. Использование МРТ позволяет проводить дифференциальную диагностику БАС с заболеваниями, способными симулировать его картину. Совместное применение различных нейровизуализационных методов дает возможность увеличить точность диагностики БАС до 90 %. С мутациями генов SOD1, С9orf72, TARDBP (TDP-43) и FUS связана большая часть спорадической и семейной заболеваемости. До сих пор не достигнут консенсус по вопросу о том, на какие именно мутации необходимо обследовать пациентов при диагностике БАС. Проведение ряда биохимических анализов и исследований на наличие аутоиммунных заболеваний при постановке БАС является необходимым для надлежащей дифференциальной диагностики. Исследование ликвора может использоваться для оценки уровня нейрофиламентов и является вспомогательным методом диагностики и оценки прогрессирования заболевания. Биопсия тканей как метод диагностики БАС используется редко ввиду своей инвазивности; может применяться преимущественно при наличии нетипичных симптомов. Перспективным методом в диагностике БАС является транскраниальная магнитная стимуляция, позволяющая ускорить процесс постановки диагноза, однако на данный момент эта процедура не внесена в диагностические критерии БАС. Оценка функции дыхания и речи необходима как при постановке диагноза, так и при ведении пациентов с БАС. Таким образом, данная категория больных требует мультидисциплинарного подхода и совместного применения различных видов диагностики для своевременной постановки диагноза. Ключевые слова: боковой амиотрофический склероз, болезнь двигательного нейрона, нейродегенерация, нейровизуализация, электромиография, диагностика БАС.

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Jaramillo, Jimena, Juan M. Solano, Alejandra Aristizábal i Juliana Martínez. "Analysis of SOD1 and C9orf72 mutations in patients with amyotrophic lateral sclerosis in Antioquia, Colombia". Biomédica 42, nr 4 (1.12.2022): 623–32. http://dx.doi.org/10.7705/biomedica.6060.

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Introduction: Amyotrophic lateral sclerosis is a neurodegenerative disease with a possible multifactorial origin characterized by the progressive degeneration of motor neurons. There is a relatively high prevalence of this disease in Antioquia; however, there is no published genetic study to date in Colombia. Despite its unknown etiopathogenesis, more genetic risk factors possibly involved in the development of this disease are constantly found.Objetives: To evaluate G93A and D90A mutations in SOD1 gene and a short tandem repeat in C9orf72 within a cohort of amyotrophic lateral sclerosis patients from Antioquia, Colombia.Materials y methods: Thirty-four patients previously diagnosed with amyotrophic lateral sclerosis were included in the study. Peripheral blood samples were used for DNA extraction and genotyping.Results: No mutations were found in SOD1 (G93A and D90A) in any of the patients, while C9orf72 exhibited an allele with a statistically significant high prevalence in the study sample (8 hexanucleotide repeats of CAGCAG).Conclusions: These results suggest an association between this short tandem repeat (STR) in C9orf72 and the presence of amyotrophic lateral sclerosis in the studied population. However, this association should be established in a larger sample size and with controls from the same population. In addition, there also seems to be a genetic anticipation effect for the disease regarding this locus, since patients with this genotype present an earlier onset.

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MacDougall, Gillian, Janet A. Wilson, Anne Pryde i Robin Grant. "Analysis of the Pharyngoesophageal Pressure Profile in Amyotrophic Lateral Sclerosis". Otolaryngology–Head and Neck Surgery 112, nr 2 (luty 1995): 258–61. http://dx.doi.org/10.1016/s0194-59989570247-4.

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Treatment of dysphagia resulting from bulbar amyotrophic lateral sclerosis has included cricopharyngeal myotomy for many years but is successful in only a minority of cases. The purpose of this study was to explore the rationale for this procedure with modern manometric techniques. The results of pharyngoesophageal manometry in 13 patients with amyotrophic lateral sclerosis were compared with 13 age- and sex-matched healthy volunteers by Mann-Whitney analysis. There was no significant difference between patients and control subjects in distal esophageal or lower esophageal sphincter motility nor any pressure parameter of pharyngoesophageal motility. Separate analysis of the seven significantly dysphagic subjects showed a significantly reduced upper esophageal sphincter after-contraction amplitude during water and bread swallows in patients than in control subjects. These data suggest that the dysphagia of amyotrophic lateral sclerosis is not due to upper esophageal sphincter spasm and that treatment by cricopharyngeal myotomy may be inappropriate.

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Guo, Xintong, Xiaoxuan Liu, Shan Ye, Xiangyi Liu, Xu Yang i Dongsheng Fan. "Eye Movement Abnormalities in Amyotrophic Lateral Sclerosis". Brain Sciences 12, nr 4 (11.04.2022): 489. http://dx.doi.org/10.3390/brainsci12040489.

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It is generally believed that eye movements are completely spared in amyotrophic lateral sclerosis (ALS). Although a series of eye movement abnormalities has been recognized in recent years, the findings are highly controversial, and bulbar disabilities should be considered in relation to eye movement abnormalities. The present study aimed to determine whether eye movement abnormalities are present in ALS and, if so, to investigate their characteristics and their association with bulbar disability in ALS patients. A total of 60 patients and 30 controls were recruited and underwent the standardized evaluations of the oculomotor system using videonystagmography. Square-wave jerks (OR: 16.20, 95% CI: 3.50–74.95, p < 0.001) and abnormal cogwheeling during smooth pursuit (OR: 14.04, 95% CI: 3.00–65.75, p = 0.001) were more frequently observed in ALS patients than in the control subjects. In subgroup analyses, square-wave jerks (OR: 26.51, 95% CI: 2.83–248.05, p = 0.004) and abnormal cogwheeling during smooth pursuit (OR: 6.56, 95% CI: 1.19–36.16, p = 0.031) were found to be more common in ALS patients with bulbar involvement (n = 44) than in those without bulbar involvement (n = 16). There were no significant differences in the investigated eye movement parameters between bulbar-onset (n = 12) and spinal-onset patients (n = 48). ALS patients showed a range of eye movement abnormalities, affecting mainly the ocular fixation and smooth pursuit systems. Our pioneering study indicates that the region of involvement could better indicate the pathophysiological essence of the abnormalities than the type of onset pattern in ALS. Eye movement abnormalities may be potential clinical markers for objectively evaluating upper brainstem or supratentorial cerebral lesion neurodegeneration in ALS.

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K, Jayavasavi, i Sathesh Kumar Sukumaran. "Amyotrophic Lateral Sclerosis – A Comprehensive Review". International Journal of Membrane Science and Technology 10, nr 3 (15.12.2023): 3711–20. http://dx.doi.org/10.15379/ijmst.v10i5.3569.

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Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease, generally said to affect people with an age between 50 years and 70 years. Signs of upper motor neuron and lower motor neuron damage, which are not explained by any other disease process, and are the reasons behind ALS. It attacks the neurons in the brain and spinal cord. These neurons transmit messages from brain and spinal cord to the voluntary muscles. At first, it causes mild muscle problems. Some people show symptoms like difficulty in walking, running, writing and speech. Eventually, the patient may lose the strength and cannot move. Due to the depletion of neuronal transmission to muscles in the chest, the patient may report difficulty to breath. The loss of lower motor neurons leads to flaccid paralysis, decreased muscle tone, decreased reflexes, muscle weakness, muscle atrophy. The defining feature of ALS is the death of both upper and lower motor neurons in the motor cortex of the brain, the brain stem, and the spinal cord. There are small eosinophilic, hyaline intra-cytoplasmic inclusions that stain positive for cystatin and transferring and are present in 70–100% of cases. Environmental and lifestyle factors play a major role in the development of ALS, but no conclusive evidence is available to support making specific changes to decrease the risk of the disease, Genetic mutations can lead to inherited ALS, which appears nearly identical to the non-inherited form. Patients with ALS generally have higher levels of glutamate in the brain, around the nerve cells in their spinal fluid. ALS patients may experience pain involving more than one type, no rigid treatment program that involves the sole use of a single agent should be employed to treat ALS-associated pain conditions. Opioids have proven to be effective in providing pain relief in advanced disease. Nevertheless, these therapies lack the ability to induce long-term lasting effects without constant administration. Over the last decade awareness of ALS has significantly increased, diagnosis is being achieved in a more timely fashion, and overall care is better. This review gives a comprehensive information about the symptoms, pathophysiology common causes, drugs currently used in the treatment.

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Godeiro-Junior, Clecio, Acary S. B. Oliveira, Andre C. Felicio, Marco A. Chieia i Alberto Alain Gabbai. "Conjugal amyotrophic lateral sclerosis in Brazil". Arquivos de Neuro-Psiquiatria 67, nr 4 (grudzień 2009): 1045–48. http://dx.doi.org/10.1590/s0004-282x2009000600015.

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The origin of amyotrophic lateral sclerosis (ALS) remains unknown, although it seems to be multifactorial. The role of environmental factors has been frequently investigated and suspicion of its influence can be obtained when clusters of a rare disease are described. OBJECTIVE: To describe conjugal cases of ALS in Brazil. METHOD: We describe 2 couples in which both spouses were affected by ALS. Both couples had lived in southeast Brazil and were married for at least 20 years. RESULTS: There was a great variability in clinical presentation of ALS in our patients. In both couples the interval between disease onsets was short. No precise environmental factors could be identified at the origin of these conjugal cases. CONCLUSION: The occurrence of ALS in couples living in the same area may be epidemiologically important, but we cannot exclude that cases may be due to a chance association.

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Frydman, Julia L., Elizabeth Pedowitz i Elizabeth C. Lindenberger. "Nutrition for Patients with Amyotrophic Lateral Sclerosis #411". Journal of Palliative Medicine 24, nr 4 (1.04.2021): 619–20. http://dx.doi.org/10.1089/jpm.2020.0756.

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Aboussouan, L. S., i E. Mireles-Cabodevila. "Respiratory Support in Patients With Amyotrophic Lateral Sclerosis". Respiratory Care 58, nr 9 (27.08.2013): 1555–58. http://dx.doi.org/10.4187/respcare.02710.

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