Homozygosity analysis in amyotrophic lateral sclerosis
نویسندگان
چکیده
منابع مشابه
Amyotrophic Lateral Sclerosis in a Patient with Behçet’s Disease
Behçet’s disease is a multisystem vasculitis. Its neurological involvement mostly includes parenchymal and non-parenchymal central nervous system manifestations. Peripheral nervous system presentations are rare. A 32-yr-old male patient who fulfilled the international study group criteria for Behçet’s disease, referred to our center with walking difficulty and repeated falling downs. Neurologi...
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Introduction: Profilin1 (PFN1) is a ubiquitously expressed protein known for its function as a regulator of actin polymerization and dynamics. A recent discovery linked mutant PFN1 to Amyotrophic Lateral Sclerosis (ALS), which is a fatal and progressive motor neuron disease. We have also demonstrated that Gly118Val mutation in PFN1 is a cause of ALS, and the formation of aggregates containing m...
متن کاملSporadic amyotrophic lateral sclerosis. A clinical analysis
Objective. To illustrate that sporadic amyotrophic lateral sclerosis (ALS) may be caused by ischemia in the intraparenchymal territory of the anterior spinal artery (ASA) and/or anterior-ventral spinal arteries (AVSAs). Case report. A 56-year-old woman presented clinical data of spinal and bulbar forms of ALS. Previously she was attended in several neurological centers. Results. In 2002 the pat...
متن کاملAmyotrophic Lateral Sclerosis
Touch MEdical MEdia 53 Fasciculation, which is observed in various peripheral motor neuron disorders, is most frequently found in nonprogressive benign fasciculation syndrome (BFS). Patients with BFS never exhibit muscle atrophy or pathologic weakness and not all such patients visit hospitals; therefore, the prevalence and characteristics of BFS still need to be established. However, among the ...
متن کامل[Amyotrophic lateral sclerosis].
Amyotrophic lateral sclerosis (ALS) is a progressive, degenerative disease of the motor system characterized by signs and symptoms of upper and lower motor dysfunction. This results in the presence of focal amyotrophies and pareses affecting voluntary muscles. Patients die after a few years, in most cases by respiratory failure. ALS is the most frequent motor neuron disease; however, its etiolo...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2013
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2013.59