Journal articles on the topic 'ALS Amyotrophic'
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1
Brauer, Sandra. "Amyotrophic lateral sclerosis (ALS)." Journal of Physiotherapy 59, no. 1 (March 2013): 61. http://dx.doi.org/10.1016/s1836-9553(13)70155-3.
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Cividini, Camilla, Silvia Basaia, Edoardo G. Spinelli, Elisa Canu, Veronica Castelnovo, Nilo Riva, Giordano Cecchetti, et al. "Amyotrophic Lateral Sclerosis–Frontotemporal Dementia." Neurology 98, no. 4 (December 1, 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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Geevasinga, Nimeshan, James Howells, Parvathi Menon, Mehdi van den Bos, Kazumoto Shibuya, José Manuel Matamala, Susanna B. Park, Karen Byth, Matthew C. Kiernan, and Steve Vucic. "Amyotrophic lateral sclerosis diagnostic index." Neurology 92, no. 6 (January 11, 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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Zwicker, Jocelyn, Danial Qureshi, Robert Talarico, Pierre Bourque, Mary Scott, Nicolas Chin-Yee, and Peter Tanuseputro. "Dying of amyotrophic lateral sclerosis." Neurology 93, no. 23 (October 31, 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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Gregory, Jenna M., Delphine Fagegaltier, Hemali Phatnani, and Matthew B. Harms. "Genetics of Amyotrophic Lateral Sclerosis." Current Genetic Medicine Reports 8, no. 4 (November 7, 2020): 121–31. http://dx.doi.org/10.1007/s40142-020-00194-8.
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Abstract Purpose of Review Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The implementation of short-read sequencing methodologies in increasingly large patient cohorts has rapidly expanded our knowledge of the complex genetic architecture of the disease. We aim to convey the broad history of ALS gene discovery as context for a focused review of 11 ALS gene associations reported over the last 5 years. We also summarize the current level of genetic evidence for all previously reported genes. Recent Findings The history of ALS gene discovery has occurred in at least four identifiable phases, each powered by different technologies and scale of investigation. The most recent epoch, benefitting from population-scale genome data, large international consortia, and low-cost sequencing, has yielded 11 new gene associations. We summarize the current level of genetic evidence supporting these ALS genes, highlighting any genotype-phenotype or genotype-pathology correlations, and discussing preliminary understanding of molecular pathogenesis. This era has also raised uncertainty around prior ALS-associated genes and clarified the role of others. Summary Our understanding of the genetic underpinning of ALS has expanded rapidly over the last 25 years and has led directly to the clinical application of molecularly driven therapies. Ongoing sequencing efforts in ALS will identify new causative and risk factor genes while clarifying the status of genes reported in prior eras of research.
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Alekseeva, T. M., N. V. Skripchenko, S. V. Lobzin, V. S. Demeshonok, E. A. Yurkina, V. D. Nazarov, and S. V. Lapin. "Difficulties in diagnosing amyotrophic lateral sclerosis in a HIV-Positive Patient." Journal Infectology 10, no. 4 (December 30, 2018): 139–44. http://dx.doi.org/10.22625/2072-6732-2018-10-4-139-144.
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We described a case of amyotrophic lateral sclerosis (ALS) with comorbid HIV infection. The diagnosis was confirmed by genetic tests. The difficulty of the differential diagnosis between amyotrophic lateral sclerosis and HIV-associated ALS syndrome is discussed.
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Chen, Anton, and C. Gaelyn Garrett. "Otolaryngologic presentations of amyotrophic lateral sclerosis." Otolaryngology–Head and Neck Surgery 132, no. 3 (March 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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Orsini, Marco, Antônio Marcos da Silva Catharino, Valéria Camargo Silveira, Carlos Henrique Melo Reis, Marcos RG de Freitas, and Acary Bulle de Oliveira. "Pseudopolyneuritic form of amyotrophic lateral sclerosis: Marie-Patrikios type." International Journal of Case Reports and Images 13, no. 2 (September 21, 2022): 118–21. http://dx.doi.org/10.5348/101340z01mo2022cr.
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Introduction: Amyotrophic lateral sclerosis (ALS), also called motor neuron disease (MND), is a progressive, neurodegenerative, and inexorable disease that affects the neurons of the anterior horn of the spinal cord, as well as the lateral funiculus. A rare variant of ALS was first described in 1918 by Patrikios and Marie, called the pseudopolyneuritic form or Marie-Patrikios disease. It is characterized by an initial manifestation with melting of the feet, distal weakness of the muscles of the anterior compartment of the leg, and absence of the Achilles tendon reflex. We present an atypical case of ALS, marked by polyneuropathy and involvement of upper and lower motor neurons. Case Report: A 70-year-old man reported that approximately four years ago he started having pain in the thoracic region with subsequent paresis in the lower limbs. Initially, compressive myelopathy, transverse myelitis, and spastic paraparesis of various causes were thought to be the cause. However, the non-impairment of the superficial and deep sensibility, obviously, with absence of sensorial level, associated to the absence of specific imaging findings in the thoracic and lumbar spine, a normal complete laboratory, ruled out such hypotheses. Conclusion: We highlight that the pseudopolyneuritic form presented in this study has a better prognosis and survival rate when compared to other subtypes of ALS. Thus, a detailed investigation including physical, neurological, and electrophysiological examination is essential to establish the diagnosis and increase the scarce knowledge about this condition.
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Nascimento, Osvaldo JM, Marco Orsini, Camila Pupe, Giseli Quintanilha, Mariana Pimentel De Mello, Caroline Pinto Pássaro, and Marcos RG De Freitas. "Amyotrophic lateral sclerosis with sensitive findings." Revista Neurociências 18, no. 3 (March 31, 2001): 320–23. http://dx.doi.org/10.34024/rnc.2010.v18.8469.
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Introduction. Classical amyotrophic lateral sclerosis (ALS) is not hard to diagnose, but when it comes to atypical forms of motor neuron disease (MND) which account for about 20% in clinical setting, we may face some difficulties in differentiating clearly between atypical forms of ALS/MND and other non-ALS diseases, such as multifocal motor neuropathy, chronic inflammatory demyelinating polyneuropathy and cervical spondylosis. Association between neuropathy and ALS has been reported rarely. Method. We report a patient who presented with clinical/electrophysiological features and investigations suggestive of chronic neuropathy but who later progressed with anterior horn and pyramidal signs and received a final diagnosis of ALS according to the original El Escorial criteria. Conclusion. Our findings support the hypothesis that ALS is a multisystem neurodegenerative disorder that may occasionally include neuropathy among its non-motor features.
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Sauter, W. F., G. Bush, and J. Sommerville. "A single case study: myoelectrically controlled exoskeletal mobilizer for amyotrophic lateral sclerosis (ALS) patients." Prosthetics and Orthotics International 13, no. 3 (December 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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Verhey, F. R. J., F. W. Vreeling, and J. Jolles. "Dementia and Amyotrophic Lateral Sclerosis." Acta Neuropsychiatrica 4, no. 1 (March 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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Roggenbuck, Jennifer, Kelly A. Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, and Jonathan D. Glass. "Amyotrophic Lateral Sclerosis Genetic Access Program." Neurology Genetics 7, no. 5 (August 10, 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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Navarro, Etiane, and Charles J. Golden. "A-151 Cognitive Impairment in Amyotrophic Lateral Sclerosis." Archives of Clinical Neuropsychology 36, no. 6 (August 30, 2021): 1205. http://dx.doi.org/10.1093/arclin/acab062.169.
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Abstract Objective Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease caused by degeneration of the upper and lower motor neurons. This literature review examines the recurring etiology of cognitive impairments in ALS through empirical literature. The current study explores ALS across different subtypes and potential cognitive impairments. Two classifications are primarily examined ALS, and ALS with frontotemporal dementia (ALS-FTD). Involving three categories: familial inheritance pattern, genetic mutation, or sporadic. Neuropsychological studies affirm cognitive impairments in individuals diagnosed with ALS and ALS-FTD. Data Selection Data was culled from the American Psychological Association (PsycInfo), PubMed, Google Scholar. Terms used in this literature review include cognitive impairment in ALS and ALS-FTD, executive function deficiencies in ALS, neuropsychology in ALS, neuropsychological deficits in ALS, neuropsychological assessments for ALS, cognitive impairments in familial ALS, genetic ALS, and sporadic ALS, familial ALS, sporadic ALS, genetic mutations involved in ALS. Search dates December 20–23 of 2020 and March 3–4 of 2021. A total of 40 studies were examined. Data Synthesis ALS-patients demonstrate a significant cognitive impairment. However, influencing comorbidities accompanying the disease may be contributing to these impairments. Researchers employed neuroimaging and neuropsychological batteries to further understand influencing factors involved in ALS and cognition. Conclusions Researchers now understand ALS as a multi-symptomatic disorder and acknowledge the presence of cognitive impairments at various encased levels. There are limitations in neuropsychological batteries that accommodate for executive dysfunctions observed in ALS patients. Future studies should explore neuropsychological assessments that accommodate for motor deficits and dysarthria when assessing cognitive impairment in ALS patients.
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Dilliott, Allison A., Catherine M. Andary, Meaghan Stoltz, Andrey A. Petropavlovskiy, Sali M. K. Farhan, and Martin L. Duennwald. "DnaJC7 in Amyotrophic Lateral Sclerosis." International Journal of Molecular Sciences 23, no. 8 (April 7, 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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Kimura, Fumiharu. "Guideline for Amyotrophic Lateral Sclerosis (ALS)." Nihon Naika Gakkai Zasshi 98, no. 5 (2009): 1148–54. http://dx.doi.org/10.2169/naika.98.1148.
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D’Antona, Salvatore, Martina Caramenti, Danilo Porro, Isabella Castiglioni, and Claudia Cava. "Amyotrophic Lateral Sclerosis: A Diet Review." Foods 10, no. 12 (December 17, 2021): 3128. http://dx.doi.org/10.3390/foods10123128.
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Amyotrophic lateral sclerosis (ALS) is a fatal disease related to upper and lower motor neurons degeneration. Although the environmental and genetic causes of this disease are still unclear, some factors involved in ALS onset such as oxidative stress may be influenced by diet. A higher risk of ALS has been correlated with a high fat and glutamate intake and β-methylamino-L-alanine. On the contrary, a diet based on antioxidant and anti-inflammatory compounds, such as curcumin, creatine, coenzyme Q10, vitamin E, vitamin A, vitamin C, and phytochemicals could reduce the risk of ALS. However, data are controversial as there is a discrepancy among different studies due to a limited number of samples and the many variables that are involved. In addition, an improper diet could lead to an altered microbiota and consequently to an altered metabolism that could predispose to the ALS onset. In this review we summarized some research that involve aspects related to ALS such as the epidemiology, the diet, the eating behaviour, the microbiota, and the metabolic diseases. Further research is needed to better comprehend the role of diet and the metabolic diseases in the mechanisms leading to ALS onset and progression.
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Lasiene, Jurate, and Koji Yamanaka. "Glial Cells in Amyotrophic Lateral Sclerosis." Neurology Research International 2011 (2011): 1–7. http://dx.doi.org/10.1155/2011/718987.
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Amyotrophic lateral sclerosis (ALS) is an adult motor neuron disease characterized by premature death of upper and lower motor neurons. Two percent of ALS cases are caused by the dominant mutations in the gene for superoxide dismutase 1 (SOD1) through a gain of toxic property of mutant protein. Genetic and chimeric mice studies using SOD1 models indicate that non-neuronal cells play important roles in neurodegeneration through non-cell autonomous mechanism. We review the contribution of each glial cell type in ALS pathology from studies of the rodent models and ALS patients. Astrogliosis and microgliosis are not only considerable hallmarks of the disease, but the intensity of microglial activation is correlated with severity of motor neuron damage in human ALS. The impaired astrocytic functions such as clearance of extracellular glutamate and release of neurotrophic factors are implicated in disease. Further, the damage within astrocytes and microglia is involved in accelerated disease progression. Finally, other glial cells such as NG2 cells, oligodendrocytes and Schwann cells are under the investigation to determine their contribution in ALS. Accumulating knowledge of active role of glial cells in the disease should be carefully applied to understanding of the sporadic ALS and development of therapy targeted for glial cells.
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Tomiyama, Hiroyuki. "C9ORF72 in Japanese amyotrophic lateral sclerosis (ALS)." Rinsho Shinkeigaku 53, no. 11 (2013): 1074–76. http://dx.doi.org/10.5692/clinicalneurol.53.1074.
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Layalle, Sophie, Laetitia They, Sarah Ourghani, Cédric Raoul, and Laurent Soustelle. "Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster." International Journal of Molecular Sciences 22, no. 2 (January 18, 2021): 904. http://dx.doi.org/10.3390/ijms22020904.
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Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset neurodegenerative disease characterized by the progressive degeneration of upper and lower motoneurons. Most ALS cases are sporadic but approximately 10% of ALS cases are due to inherited mutations in identified genes. ALS-causing mutations were identified in over 30 genes with superoxide dismutase-1 (SOD1), chromosome 9 open reading frame 72 (C9orf72), fused in sarcoma (FUS), and TAR DNA-binding protein (TARDBP, encoding TDP-43) being the most frequent. In the last few decades, Drosophila melanogaster emerged as a versatile model for studying neurodegenerative diseases, including ALS. In this review, we describe the different Drosophila ALS models that have been successfully used to decipher the cellular and molecular pathways associated with SOD1, C9orf72, FUS, and TDP-43. The study of the known fruit fly orthologs of these ALS-related genes yielded significant insights into cellular mechanisms and physiological functions. Moreover, genetic screening in tissue-specific gain-of-function mutants that mimic ALS-associated phenotypes identified disease-modifying genes. Here, we propose a comprehensive review on the Drosophila research focused on four ALS-linked genes that has revealed novel pathogenic mechanisms and identified potential therapeutic targets for future therapy.
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Irwin, D., Carol F. Lippa, and J. M. Swearer. "Cognition and Amyotrophic Lateral Sclerosis (ALS)." American Journal of Alzheimer's Disease & Other Dementiasr 22, no. 4 (August 2007): 300–312. http://dx.doi.org/10.1177/1533317507301613.
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Leonov, G. A., A. S. Solomatinа, and A. O. Burshinov. "Difficulties in diagnosing amyotrophic lateral sclerosis with lumbosacral debut." NAUKA MOLODYKH (Eruditio Juvenium) 9, no. 3 (September 30, 2021): 463–70. http://dx.doi.org/10.23888/hmj202193463-470.
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Description of a clinical case of amyotrophic lateral sclerosis with lumbosacral debut. These data show certain difficulties for neurologists in correct diagnosing ALS or classifying it as a motor neuron disease. The differential diagnosis at admission was carried out with vertebrogenic cervical myelopathy, myasthenia gravis, and neural amyotrophy. During the collection of anamnesis, therapeutic and neurological examinations, evidence of motor neuron degeneration in the cervical-thoracic and lumbosacral parts of the spinal cord was revealed. We used auxiliary diagnostic methods (RCT of the spine and MRI of the brain, clinical and laboratory methods) to exclude other pathologies. The diagnosis of ALS is a verdict for the patient, since there is no effective treatment for the disease at the moment. CONCLUSION: The symptoms of ALS are largely similar to other potentially curable and / or benign diseases of the nervous system, so the patient's examination should be comprehensive, with the possible use of molecular genetic research methods.
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Godeiro-Junior, Clecio, Acary S. B. Oliveira, Andre C. Felicio, Marco A. Chieia, and Alberto Alain Gabbai. "Conjugal amyotrophic lateral sclerosis in Brazil." Arquivos de Neuro-Psiquiatria 67, no. 4 (December 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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Zheng, Xuanlu, Joana Schröder, Dandan Sima, Mingzhe Wang, Qiudong Wang, and Weidong Pan. "Amyotrophic Lateral Sclerosis Symptom Score in Integrative Treatments (ALS-SSIT) for Evaluating Therapeutic Effect of Traditional Chinese Medicine: A Prospective Study." Computational and Mathematical Methods in Medicine 2022 (April 16, 2022): 1–5. http://dx.doi.org/10.1155/2022/7594481.
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Objective. To evaluate the reliability, validity, sensitivity, and clinical applicability of a new scale—the amyotrophic lateral sclerosis symptom score in integrative treatments (ALS-SSIT)—for measuring the effect of traditional Chinese medicine (TCM) in patients with amyotrophic lateral sclerosis (ALS). Methods. A total of 160 patients with ALS were enrolled and followed up for 6 months. All patients received TCM. Patients were evaluated at enrollment and at the end of 6 months with a new scale, the ALS-SSIT, developed after extensive consultations with TCM experts with several years of experience in the treatment of ALS. The 36-item Medical Outcomes Study Short Form (SF-36) scale and the amyotrophic lateral sclerosis functional rating scale (ALSFRS) were used as the reference standards. Results. The acceptance rate and completion rate of the ALS-SSIT scale were high, and the content validity was confirmed by experts. Test-retest performed at enrollment and at 6 months showed good reliability of the ALS-SSIT scale (Cronbach α , 0.9172 and 0.9181, respectively). The ALS-SSIT scale score showed significant change at 6 months, indicating the ability to reflect the change in disease severity. Conclusion. The ALS-SSIT appears to be a feasible, reliable, and sensitive tool for the evaluation of the effect of TCM in patients with ALS.
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Fang, Ton, Goun Je, Peter Pacut, Kiandokht Keyhanian, Jeff Gao, and Mehdi Ghasemi. "Gene Therapy in Amyotrophic Lateral Sclerosis." Cells 11, no. 13 (June 29, 2022): 2066. http://dx.doi.org/10.3390/cells11132066.
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Since the discovery of Cu/Zn superoxide dismutase (SOD1) gene mutation, in 1993, as the first genetic abnormality in amyotrophic lateral sclerosis (ALS), over 50 genes have been identified as either cause or modifier in ALS and ALS/frontotemporal dementia (FTD) spectrum disease. Mutations in C9orf72, SOD1, TAR DNA binding protein 43 (TARDBP), and fused in sarcoma (FUS) genes are the four most common ones. During the last three decades, tremendous effort has been made worldwide to reveal biological pathways underlying the pathogenesis of these gene mutations in ALS/FTD. Accordingly, targeting etiologic genes (i.e., gene therapies) to suppress their toxic effects have been investigated widely. It includes four major strategies: (i) removal or inhibition of abnormal transcribed RNA using microRNA or antisense oligonucleotides (ASOs), (ii) degradation of abnormal mRNA using RNA interference (RNAi), (iii) decrease or inhibition of mutant proteins (e.g., using antibodies against misfolded proteins), and (iv) DNA genome editing with methods such as clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (CRISPR/Cas). The promising results of these studies have led to the application of some of these strategies into ALS clinical trials, especially for C9orf72 and SOD1. In this paper, we will overview advances in gene therapy in ALS/FTD, focusing on C9orf72, SOD1, TARDBP, and FUS genes.
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Ricci, Claudia, Carlotta Marzocchi, and Stefania Battistini. "MicroRNAs as Biomarkers in Amyotrophic Lateral Sclerosis." Cells 7, no. 11 (November 20, 2018): 219. http://dx.doi.org/10.3390/cells7110219.
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Amyotrophic lateral sclerosis (ALS) is an incurable and fatal disorder characterized by the progressive loss of motor neurons in the cerebral cortex, brain stem, and spinal cord. Sporadic ALS form accounts for the majority of patients, but in 1–13.5% of cases the disease is inherited. The diagnosis of ALS is mainly based on clinical assessment and electrophysiological examinations with a history of symptom progression and is then made with a significant delay from symptom onset. Thus, the identification of biomarkers specific for ALS could be of a fundamental importance in the clinical practice. An ideal biomarker should display high specificity and sensitivity for discriminating ALS from control subjects and from ALS-mimics and other neurological diseases, and should then monitor disease progression within individual patients. microRNAs (miRNAs) are considered promising biomarkers for neurodegenerative diseases, since they are remarkably stable in human body fluids and can reflect physiological and pathological processes relevant for ALS. Here, we review the state of the art of miRNA biomarker identification for ALS in cerebrospinal fluid (CSF), blood and muscle tissue; we discuss advantages and disadvantages of different approaches, and underline the limits but also the great potential of this research for future practical applications.
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Andrew, Eisen, and Krieger Charles. "Pathogenic Mechanisms in Sporadic Amyotrophic Lateral Sclerosis." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 20, no. 4 (November 1993): 286–96. http://dx.doi.org/10.1017/s0317167100048198.
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ABSTRACT:In recognition of the 100th anniversary of Charcot’s death we have reviewed possible pathogenic mechanisms in amyotrophic lateral sclerosis (ALS). Advances in the last 5 years in molecular biology and genetics have identified mutations in the cytosolic dismutase (SODI) gene in some patients with familial ALS raising the possibility that oxidative stress may be involved in the pathogenesis. An excitotoxic pathogenesis has been implicated based on elevated plasma and CSF levels of amino acids and altered contents of amino acids in the nervous system of ALS patients and changes in the number of excitatory amino acid receptors. ALS sera containing antibodies to L-type calcium channels and the development of immune mediated lower and upper and lower motor neuron models have revitalized research efforts focusing on an immune basis for ALS. Other pathogenic mechanisms which have been the subject of recent research include elemental toxicity, apoptosis and programmed cell death and possibly a deficiency or abnormality in growth factors. Pathogenic processes for ALS must account for an increasing incidence of ALS, male preponderance, and the selective vulnerability of the corticomotoneuronal system.
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McCluskey, Gavin, Karen E. Morrison, Colette Donaghy, Frederique Rene, William Duddy, and Stephanie Duguez. "Extracellular Vesicles in Amyotrophic Lateral Sclerosis." Life 13, no. 1 (December 31, 2022): 121. http://dx.doi.org/10.3390/life13010121.
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Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease and is the most common adult motor neuron disease. The disease pathogenesis is complex with the perturbation of multiple pathways proposed, including mitochondrial dysfunction, RNA processing, glutamate excitotoxicity, endoplasmic reticulum stress, protein homeostasis and endosomal transport/extracellular vesicle (EV) secretion. EVs are nanoscopic membrane-bound particles that are released from cells, involved in the intercellular communication of proteins, lipids and genetic material, and there is increasing evidence of their role in ALS. After discussing the biogenesis of EVs, we review their roles in the propagation of pathological proteins in ALS, such as TDP-43, SOD1 and FUS, and their contribution to disease pathology. We also discuss the ALS related genes which are involved in EV formation and vesicular trafficking, before considering the EV protein and RNA dysregulation found in ALS and how these have been investigated as potential biomarkers. Finally, we highlight the potential use of EVs as therapeutic agents in ALS, in particular EVs derived from mesenchymal stem cells and EVs as drug delivery vectors for potential treatment strategies.
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Thompson, Alexander G., Elizabeth Gray, Alexander Bampton, Dominika Raciborska, Kevin Talbot, and Martin R. Turner. "CSF chitinase proteins in amyotrophic lateral sclerosis." Journal of Neurology, Neurosurgery & Psychiatry 90, no. 11 (May 23, 2019): 1215–20. http://dx.doi.org/10.1136/jnnp-2019-320442.
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ObjectiveTo evaluate the classifier performance, clinical and biochemical correlations of cerebrospinal fluid (CSF) levels of the chitinase proteins Chitotriosidase-1 (CHIT1), Chitinase-3-like protein 1 (CHI3L1) and Chitinase-3-like protein 2 (CHI3L2) in amyotrophic lateral sclerosis (ALS).MethodsCSF levels of CHIT1, CHI3L1, CHI3L2, phosphorylated neurofilament heavy chain (pNFH) and C-reactive protein were measured by ELISA in a longitudinal cohort of patients with ALS (n=82), primary lateral sclerosis (PLS, n=10), ALS-mimic conditions (n=12), healthy controls (n=25) and asymptomatic carriers of ALS-causing genetic mutations (AGC; n=5).ResultsCSF CHIT1, CHI3L1 and CHI3L2 were elevated in patients with ALS compared with healthy controls (p<0.001) and ALS-mimics (CHIT1, p<0.001; CHI3L1, p=0.017; CHI3L2, p<0.001). CHIT1 and CHI3L2 were elevated in ALS compared with PLS (CHIT1, p=0.021; CHI3L1, p=0.417; CHI3L2, p<0.001). Chitinase levels were similar in AGCs and healthy controls. Chitinase proteins distinguished ALS from healthy controls (area under the curve (AUC): CHIT1 0.92; CHI3L1 0.80; CHI3L2 0.90), mimics (AUC: CHIT1 0.84; CHI3L1 0.73; CHI3L2 0.88) and, to a lesser extent, PLS (AUC: CHIT 0.73; CHI3L1 0.51; CHI3L2 0.82) but did not outperform pNFH. CHIT1 and CHI3L2 correlated with disease progression rate (Pearson’s r=0.49, p<0.001; r=0.42, p<0.001, respectively). CHI3L1 correlated with degree of cognitive dysfunction (r=−0.25, p=0.038). All chitinases correlated with pNFH. CHIT1 levels were associated with survival in multivariate models. Chitinase levels were longitudinally stable.ConclusionsCSF chitinase proteins may have limited value as independent diagnostic and stratification biomarkers in ALS, but offer a window into non-autonomous mechanisms of motor neuronal loss in ALS, specifically in assessing response to therapies targeting neuroinflammatory pathways.
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Smukowski, Samuel N., Heather Maioli, Caitlin S. Latimer, Thomas D. Bird, Suman Jayadev, and Paul N. Valdmanis. "Progress in Amyotrophic Lateral Sclerosis Gene Discovery." Neurology Genetics 8, no. 3 (April 27, 2022): e669. http://dx.doi.org/10.1212/nxg.0000000000000669.
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Amyotrophic lateral sclerosis (ALS) is the most prominent motor neuron disease in humans. Its etiology consists of progressive motor neuron degeneration resulting in a rapid decline in motor function starting in the limbs or bulbar muscles and eventually fatally impairing central organs most typically resulting in loss of respiration. Pathogenic variants in 4 main genes, SOD1, TARDBP, FUS, and C9orf72, have been well characterized as causative for more than a decade now. However, these only account for a small fraction of all ALS cases. In this review, we highlight many additional variants that appear to be causative or confer increased risk for ALS, and we reflect on the technologies that have led to these discoveries. Next, we call attention to new challenges and opportunities for ALS and suggest next steps to increase our understanding of ALS genetics. Finally, we conclude with a synopsis of gene therapy paradigms and how increased understanding of ALS genetics can lead us to developing effective treatments. Ultimately, a consolidated update of the field can provide a launching point for researchers and clinicians to improve our search for ALS-related genes, defining pathogenic mechanisms, form diagnostics, and develop therapies.
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Srivastava, Ojas, Chris Hanstock, Sneha Chenji, Dennell Mah, Dean Eurich, Daniel Ta, Peter Seres, et al. "Cerebral degeneration in amyotrophic lateral sclerosis." Neurology: Clinical Practice 9, no. 5 (June 5, 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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Lulé, Dorothée. "Neuroimaging Advances in Amyotrophic Lateral Sclerosis." European Neurological Review 5, no. 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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Rentzos, Michael, Maria Elepthera Evangelopoulos, Eleni Sereti, Vassiliki Zouvelou, Styliani Marmara, Theodoros Alexakis, and Ioannis Evdokimidis. "Humoral immune activation in amyotrophic lateral sclerosis patients." Neurology International 5, no. 1 (February 11, 2013): 3. http://dx.doi.org/10.4081/ni.2013.e3.
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There is evidence that immunological factors may involved in the pathogenetic mecha- nisms of amyotrophic lateral sclerosis (ALS). Few studies to date have explored the status of the humoral immune response in patients with ALS. We examined the presence of humoral immune activation in ALS patients, serum immunoglobulins (IgG, IgA and IgM) levels were measured in 36 patients with ALS and 35 normal controls. Serum IgG, IgM and IgA levels were not significantly different in our ALS patients compared with the control group (P=ns). No correlations of serum IgG, IgM and IgA concentrations with duration, severity of the disease or the clinical form of onset (bulbar or spinal) were found in our ALS patients. Our results do not suggest a humoral immune activation in ALS patients. This does not exclude that immunological mechanisms may be involved in ALS pathogenesis.
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Goncharova, P. S., T. K. Davidova, N. A. Shnayder, M. A. Novitsky, and R. F. Nasyrova. "Epidemiology of Amyotrophic Lateral Sclerosis." Personalized Psychiatry and Neurology 2, no. 1 (May 15, 2022): 57–66. http://dx.doi.org/10.52667/2712-9179-2022-2-1-57-66.
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We searched for full-text publications in Russian and English in the E-Library, PubMed, Springer, Clinical keys, Google Scholar databases, using keywords and combined word searches (amyotrophic lateral sclerosis - ALS, motor neuron disease, epidemiology, incidence, prevalence), for 2015 – 2020. In addition, the review included earlier publications of historical interest. Despite our comprehensive searches of these commonly used databases and search terms, it cannot be excluded that some publications may have been missed. A total of 74 publications were analyzed, reflecting epidemiological studies of ALS in 168 countries. The incidence of ALS worldwide varies from 0.4 per 100,000 per year (Ecuador) to 9.45 per 100,000 per year (Japan, Oshima region). Prevalence - from 0.1 per 100,000 population (Somalia) to 42.1 per 100,000 population (Canada). This data depends on many factors, including the quality of the diagnosis and the health care system.
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Platova, Yu A., and N. O. Zharinova. "MODERN DIAGNOSTICS OF AMYOTROPHIC LATERAL SCLEROSIS." Ulyanovsk Medico-biological Journal, no. 2 (July 15, 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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Koberskaya, N. N., D. A. Grishina, and N. N. Yakhno. "Syndrome amyotrophic lateral sclerosis — Alz heimer's dementia." Russian neurological journal 26, no. 2 (May 29, 2021): 17–24. http://dx.doi.org/10.30629/2658-7947-2021-26-2-17-24.
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Recently, there is more and more evidence of the presence of a cognitive defect of varying severity in the clinical picture of ALS. A rare form of the disease is the amyotrophic lateral sclerosis (ALS) — dementia complex, characterized by a combination of dementia (usually frontotemporal) with ALS symptoms. The profile of cognitive deficit in ALS includes impairment of executive functions, memory, speech and visual-spatial disorders. A literature review on this problem is presented with a description of the clinical observation of ALS–dementia syndrome (frontal variant of possible Alzheimer’s disease). A patient with a reliable diagnosis of ALS showed rapidly progressive cognitive impairments in the form of hippocampal memory impairments, speech, visual-spatial impairments, and defective executive functions, accompanied by behavioral changes (apathy, decreased criticism). Magnetic resonance imaging of the brain revealed significant atrophy of the hippocampus, frontal lobe cortex, and left temporal lobe. In the literature, there are practically no descriptions of patients with a clinical picture of a combination of AD and ALS. Difficulties in diagnosing this condition are discussed. The relationship between these neurodegenerative diseases is discussed. The presented literature data and the presented clinical observation confi rm the expediency of studying cognitive functions in patients with suspected or signifi cant ALS, on the one hand, and analysis of the state of the central and peripheral neurons in patients with neuropsychiatric disorders of the frontotemporal type, on the other hand, which can be useful for diagnostics and treatment and rehabilitation measures.
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Fawad, Laiba, and Mehrab Tahir. "Emerging Therapies in Amyotrophic Lateral Sclerosis." Molecular Medicine Communications 2, no. 01 (June 30, 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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Calvo, Andrea, Paolo Ghiglione, and Adriano Chiò. "Management of patients with amyotrophic lateral sclerosis." Clinical Management Issues 2, no. 3 (September 15, 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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Shimizu, Toshio, and Kota Bokuda. "Complex Fasciculation Potentials in Amyotrophic Lateral Sclerosis." US Neurology 11, no. 01 (2015): 53. http://dx.doi.org/10.17925/usn.2015.11.01.53.
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Fasciculation and fasciculation potentials (FPs) are most frequently observed in progressive motor neuron disorders, including amyotrophic lateral sclerosis (ALS). Recent diagnostic criteria, the so-called Awaji criteria, emphasize the importance of FPs in the electrodiagnosis of ALS. Although FPs are found in other benign syndromes, FPs in ALS often show a complex morphology (complex fasciculation potential [CFP]) with instability in the form of increased jitters with blocking of some components of the FPs. The criteria have raised the diagnostic significance of FPs as FPs have clinical importance in the diagnosis of ALS equivalent to spontaneous denervation potentials (fibrillation potentials and positive sharp waves). CFPs have multiple pathomechanisms, but they frequently originate from the most distal sites of the peripheral motor neurons. In addition, CFPs are strongly related to axonal membrane hyperexcitability. The increased amount of CFPs in individual patients has been reported to predict shorter survival and rapid progression of the disease. These findings suggest that CFPs have a disease-specific significance to ALS; therefore, exact documentation of CFPs in needle electromyography may contribute to correct diagnoses of ALS and early clinical trials.
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Fernando, Adrian F., and Antonio H. Chua. "Dysphagia as the Initial Presenting Symptom of Amyotrophic Lateral Sclerosis." Philippine Journal of Otolaryngology-Head and Neck Surgery 23, no. 2 (December 27, 2008): 28–31. http://dx.doi.org/10.32412/pjohns.v23i2.735.
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Objective: To present a case of Amyotrophic Lateral Sclerosis (ALS) with an unusual initial presentation of dysphagia.
Methods:
Design: Case Report
Setting: Private tertiary university hospital
Patient: One
Results: A 78-year-old female with two years’ progressive dysphagia thrice refused biopsy of a right oropharyngeal bulge recommended by three differenet otorhinolaryngologists. Slurring developed, but normal cranial CT scans cleared her of a cerebrovascular event. Subsequent marked weight loss, dysarthria and lower extremity weakness led to tests including an electromyogram and nerve conduction velocity study (EMG-NCV) consistent with amyotrophic lateral sclerosis (ALS).
Conclusion: Awareness of neurologic disorders that cause dysphagia may prevent unnecessary diagnostic interventions. Algorithms for evaluation and management of dysphagia may also reduce misdiagnosis and consequent mismanagement. ALS may be considered whenever symptoms of dysphagia present with subsequent development of other motor neurologic signs of denervation such as fasciculation, weakness and atrophy. Otorhinolaryngologists play a vital role in the ALS team in light of the need for thorough swallowing evaluation and airway support.
Key words: dysphagia, Amyotrophic Lateral Sclerosis (ALS), bulbar-onset ALS, oropharyngeal mass
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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, and Marcondes C. França Jr. "Laryngeal electromyography in amyotrophic lateral sclerosis." Journal of Neurology, Neurosurgery & Psychiatry 91, no. 7 (April 21, 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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Guo, Xintong, Xiaoxuan Liu, Shan Ye, Xiangyi Liu, Xu Yang, and Dongsheng Fan. "Eye Movement Abnormalities in Amyotrophic Lateral Sclerosis." Brain Sciences 12, no. 4 (April 11, 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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Yang, Xiaoming, Yanan Ji, Wei Wang, Lilei Zhang, Zehao Chen, Miaomei Yu, Yuntian Shen, Fei Ding, Xiaosong Gu, and Hualin Sun. "Amyotrophic Lateral Sclerosis: Molecular Mechanisms, Biomarkers, and Therapeutic Strategies." Antioxidants 10, no. 7 (June 24, 2021): 1012. http://dx.doi.org/10.3390/antiox10071012.
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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with the progressive loss of motor neurons, leading to a fatal paralysis. According to whether there is a family history of ALS, ALS can be roughly divided into two types: familial and sporadic. Despite decades of research, the pathogenesis of ALS is still unelucidated. To this end, we review the recent progress of ALS pathogenesis, biomarkers, and treatment strategies, mainly discuss the roles of immune disorders, redox imbalance, autophagy dysfunction, and disordered iron homeostasis in the pathogenesis of ALS, and introduce the effects of RNA binding proteins, ALS-related genes, and non-coding RNA as biomarkers on ALS. In addition, we also mention other ALS biomarkers such as serum uric acid (UA), cardiolipin (CL), chitotriosidase (CHIT1), and neurofilament light chain (NFL). Finally, we discuss the drug therapy, gene therapy, immunotherapy, and stem cell-exosomal therapy for ALS, attempting to find new therapeutic targets and strategies. A challenge is to study the various mechanisms of ALS as a syndrome. Biomarkers that have been widely explored are indispensable for the diagnosis, treatment, and prevention of ALS. Moreover, the development of new genes and targets is an urgent task in this field.
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Chakraborty, Ashok, and Anil Diwan. "Biomarkers and molecular mechanisms of Amyotrophic Lateral Sclerosis." AIMS Neuroscience 9, no. 4 (2022): 423–43. http://dx.doi.org/10.3934/neuroscience.2022023.
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<abstract> <p>Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in adults involving non-demyelinating motor disorders. About 90% of ALS cases are sporadic, while 10–12% of cases are due to some genetic reasons. Mutations in superoxide dismutase 1 (<italic>SOD1</italic>), <italic>TAR</italic>, <italic>c9orf72</italic> (chromosome 9 open reading frame 72) and <italic>VAPB</italic> genes are commonly found in ALS patients. Therefore, the mechanism of ALS development involves oxidative stress, endoplasmic reticulum stress, glutamate excitotoxicity and aggregation of proteins, neuro-inflammation and defective RNA function. Cholesterol and LDL/HDL levels are also associated with ALS development. As a result, sterols could be a suitable biomarker for this ailment. The main mechanisms of ALS development are reticulum stress, neuroinflammation and RNA metabolism. The multi-nature development of ALS makes it more challenging to pinpoint a treatment.</p> </abstract>
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Sun, Xiaohan, Ximeng Zhao, Qing Liu, Shuangwu Liu, Kang Zhang, Zhi-li Wang, Xunzhe Yang, et al. "Study on sleep-wake disorders in patients with genetic and non-genetic amyotrophic lateral sclerosis." Journal of Neurology, Neurosurgery & Psychiatry 92, no. 1 (October 21, 2020): 96–102. http://dx.doi.org/10.1136/jnnp-2020-324544.
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ObjectiveTo study the frequency and clinical features of sleep disturbances in amyotrophic lateral sclerosis (ALS) patients and compare sleep disorders between ALS with and without mutations.MethodsIn this case–control study, 204 ALS patients and 206 controls were included. We evaluated sleep quality using Pittsburgh Sleep Quality Index (PSQI). Excessive daytime sleepiness (EDS) was diagnosed according to Epworth Sleepiness Scale (ESS). Other characteristics, including rapid eye movement sleep behaviour disorder, restless legs syndrome (RLS), cognitive and psychological impairments, were also evaluated. All ALS patients underwent whole exome sequencing analysis to screen for ALS mutations and were divided into genetic ALS and non-genetic ALS subgroups based on the genetic testing results.ResultsA total of 114 men and 90 women ALS patients, with a mean onset age of 53.5±9.9 years, were included in this study. There were 21 mutations detected, contributing to 46.6% of familial amyotrophic lateral sclerosis (FALS) and 7.4% of sporadic amyotrophic lateral sclerosis (SALS). The PQSI and ESS scores were higher in ALS patients than in controls (PSQI 6.0 (3.0,10.0) vs 3.5 (2.0,5.0) (p<0.01); ESS 6.0 (3.0,10.0) vs 4.0 (3.0,8.0) (p<0.01), respectively). RLS was more frequent in ALS patients than in controls (p<0.01). Genetic ALS patients were more likely to show EDS than non-genetic ALS patients (adjusted OR 5.2, p<0.01). Genetic ALS scored lower on Revised ALS Functional Rating Scale, and higher on PSQI and ESS than non-genetic ALS (p<0.01).ConclusionsIn the current study, ALS patients with mutations were more likely to have sleep-wake disturbances than were those without mutations. The former group may benefit more from sleep management.
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Dengler, Reinhard. "Diagnostic criteria of amyotrophic lateral sclerosis (ALS)." Romanian Journal of Neurology 9, no. 4 (December 31, 2010): 165–71. http://dx.doi.org/10.37897/rjn.2010.4.1.
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The revised El Escorial Criteria (EEC) are the gold standard of ALS diagnosis. They are very specific although insensitive and not suitable for early diagnosis. Therefore the Awaji Criteria have been developed which put more emphasis on EMG findings than the EEC, especially on fasciculation potentials. The Awaji Criteria regard fasciculation potentials as sign of active denervation in an otherwise typical clinical context of ALS. Recent publications confirm that the Awaji Criteria have a higher sensitivity than the EEC in the diagnosis of ALS without increasing the rate of false positive diagnoses.
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Saitoh, Yuji, and Yuji Takahashi. "Riluzole for the treatment of amyotrophic lateral sclerosis." Neurodegenerative Disease Management 10, no. 6 (December 2020): 343–55. http://dx.doi.org/10.2217/nmt-2020-0033.
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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease caused by the death of motor neurons. Riluzole is a benzothiazole derivative that blocks glutamatergic neurotransmission in the CNS, which is thought to exert neuroprotective effects. Riluzole was approved by the US FDA in 1995 as the first drug to treat ALS. Although riluzole is generally safe and well tolerated in clinical practice, its efficacy in ALS is modest, prolonging tracheostomy-free survival by only 2–3 months. In this article, we will first provide an overview of the ALS field, followed by a discussion of riluzole regarding its physical properties; pharmacology; clinical efficacy in ALS; safety and tolerability; and recommended administration.
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Idiculla, Pretty Sara, and Raghav Govindarajan. "A Case of Cervical Spondylotic Amyotrophy Mimicking Amyotrophic Lateral Sclerosis." Case Reports in Neurology 12, no. 3 (September 18, 2020): 314–20. http://dx.doi.org/10.1159/000509684.
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Cervical spondylotic amyotrophy (CSA) is a rare clinical condition characterized by weakness and atrophy of the upper limb with minimal to no associated sensory deficits. The detection of the disease is based on clinical features at presentation, neurological examination, electrophysiological studies, and imaging. The proposed pathophysiological mechanisms include selective damage to the ventral root or anterior horn cells of the spinal cord. Depending on the muscle groups that are involved, CSA is broadly classified into a proximal type and a distal type. The clinical profiles of patients with CSA and ALS have a very close resemblance to each other, especially at the early stages of the disease. Cervical spine magnetic resonance imaging (MRI) may show T2 hyperintensity in both proximal and distal types. Electromyogram demonstrates denervation potentials and reduced motor unit potentials in the affected muscles. The conservative management is often the first-line modality, and those who fail to respond to conservative treatment have severe muscular atrophy and weakness, and distal-type CSA are considered potential candidates for surgery. We present the case of a 57-year-old female who presented with a 1-year history of left-hand weakness and wasting with no sensory deficits. She denied any involvement of her other hand or bilateral lower limbs, and she was referred to our clinic with the potential diagnosis of amyotrophic lateral sclerosis (ALS). An elaborate history, physical examination, electrophysiological studies, and imaging assisted us in reaching the diagnosis of CSA, 1 year after the onset of symptoms.
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Bakulin, I. S., R. N. Konovalov, M. V. Krotenkova, N. A. Suponeva, and M. N. Zakharova. "Voxel-based morphometry in amyotrophic lateral sclerosis." Journal of radiology and nuclear medicine 99, no. 6 (January 2, 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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Ferri, Laura, Paola Ajdinaj, Marianna Gabriella Rispoli, Claudia Carrarini, Filomena Barbone, Damiano D’Ardes, Margherita Capasso, et al. "Diabetes Mellitus and Amyotrophic Lateral Sclerosis: A Systematic Review." Biomolecules 11, no. 6 (June 10, 2021): 867. http://dx.doi.org/10.3390/biom11060867.
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Background: Amyotrophic Lateral Sclerosis (ALS) is a degenerative disorder which affects the motor neurons. Growing evidence suggests that ALS may impact the metabolic system, including the glucose metabolism. Several studies investigated the role of Diabetes Mellitus (DM) as risk and/or prognostic factor. However, a clear correlation between DM and ALS has not been defined. In this review, we focus on the role of DM in ALS, examining the different hypotheses on how perturbations of glucose metabolism may interact with the pathophysiology and the course of ALS. Methods: We undertook an independent PubMed literature search, using the following search terms: ((ALS) OR (Amyotrophic Lateral Sclerosis) OR (Motor Neuron Disease)) AND ((Diabetes) OR (Glucose Intolerance) OR (Hyperglycemia)). Review and original articles were considered. Results: DM appears not to affect ALS severity, progression, and survival. Contrasting data suggested a protective role of DM on the occurrence of ALS in elderly and an opposite effect in younger subjects. Conclusions: The actual clinical and pathophysiological correlation between DM and ALS is unclear. Large longitudinal prospective studies are needed. Achieving large sample sizes comparable to those of common complex diseases like DM is a challenge for a rare disease like ALS. Collaborative efforts could overcome this specific issue.
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Areprintseva, Daria K., and Mansur A. Kutlubaev. "Cognitive and behavioral changes in amyotrophic lateral sclerosis." Neurology Bulletin LIV, no. 3 (November 4, 2022): 27–32. http://dx.doi.org/10.17816/nb109965.
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BACKGROUND. Amyotrophic lateral sclerosis (ALS) is not limited only to motor impairment, and can also manifest with cognitive and behavioral disorders. Currently these presentations of ALS are unrecognized. Hence the research of ALS variants with cognitive and behavioral impairments is necessary.
AIM. To study the frequency and clinical characteristics of ALS variants with cognitive and behavioral impairments.
MATERIAL AND METHODS. The patients were recruited in 20202021. All patients with definite and possible ALS according to El Escorial criteria were included. The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) was used to assess cognitive and behavioral changes. 44 patients, 26 males and 18 females, aged 39 to 77 years (median of age 61 years, interquartile range 53.574.5). Statistical analysis was performed using IBM SPSS Statistics 21. Continuous data were analyzed using the MannWhitney test, categorical data was analyzed by exact Fisher criteria. A p-value less than 0.05 was statistically significant.
RESULTS. In 43.2% of patients cognitive and/or behavioral changes were observed. The majority of patients (approximately 20%) suffered from a variant of ALS with cognitive impairment, which was mostly presented with executive and social cognitive dysfunction. ALS with behavioral impairment was observed at 9% of patients, which mostly presented with apathy and disinhibition. A combination of cognitive and behavioral impairment was registered in 7% of patients. In another 7% of patients severity of cognitive and behavioral impairment reached a degree of dementia and corresponded to frontotemporal degeneration.
CONCLUSION. This cognitive and behavioral impairment is observed in a substantial number of patients with ALS and mostly presented with moderate executive and social cognitive dysfunction, as well as apathy and less often disinhibition.