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Gene Mutations in Familial Amyotrophic Lateral Sclerosis Masaya Oda 1 , Yuishin Izumi 2 , Ryuji Kaji 2 1Department of Neurology,Mifukai Vihara Hananosato Hospital 2Department of Neurology,Tokushima University Hospital Keyword: familial amyotrophic lateral sclerosis , Cu/Zn superoxide dismutase (SOD1) , TAR DNA-binding protein (TARDBP) , fused in sarcoma (FUS) , optineurin pp.165-170
Published Date 2011/2/1
DOI https://doi.org/10.11477/mf.1416100841
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Abstract

 Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscle weakness that reflects degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem, and spinal cord. Most ALS cases are sporadic, but about 5%-10% are familial. The majority of familial ALS (FALS) cases follow an autosomal dominant inheritance pattern, and include the following mutations: ALS1, Cu/Zn superoxide dismutase (SOD1); ALS3; ALS4, senataxin; ALS6, fused in sarcoma (FUS); ALS7; ALS8, vesicle-associated membrane protein; ALS9, angiogenin; ALS10, TAR DNA-binding protein (TARDBP); and ALS11/FIG4. Some of these gene mutations are rarely seen in sporadic ALS cases. ALS2/alsin and ALS5 show an autosomal recessive inheritance pattern.

 Recently,mutations in the gene encoding optineurin,earlier reported to be a causative gene for primary open-angle glaucoma,have also been found in patients with ALS. It has also been demonstrated that a mutation in the D-amino acid oxidase gene is associated with classic adult-onset FALS. However,these genetic defects occur in only about 20%-30% FLAS cases,while most genes causing FALS remain unknown.


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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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