title: [Gene mutations in familial amyotrophic lateral sclerosis].
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.
authors.affiliation: Department of Neurology, Mifukai Vihara Hananosato Hospital, Hiroshima, Japan.
authors.forename: Masaya
authors.initials: M
authors.lastname: Oda
authors.forename: Yuishin
authors.initials: Y
authors.lastname: Izumi
authors.forename: Ryuji
authors.initials: R
authors.lastname: Kaji
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D018797:Cell Cycle Proteins; D003605:D-Amino-Acid Oxidase / Q000235:genetics; D004265:DNA Helicases; D004268:DNA-Binding Proteins / Q000235:genetics; D005420:Flavoproteins / Q000235:genetics; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins; D064251:Multifunctional Enzymes; D009154:Mutation; D010744:Phosphoric Monoester Hydrolases; D050683:R-SNARE Proteins / Q000235:genetics; D020365:RNA Helicases / Q000235:genetics*; D012259:Ribonuclease, Pancreatic / Q000235:genetics; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D035582:Transcription Factor TFIIIA / Q000235:genetics*
chemical_list: C438187:ALS2 protein, human; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D005420:Flavoproteins; D020662:Guanine Nucleotide Exchange Factors; D026901:Membrane Transport Proteins; D064251:Multifunctional Enzymes; C409460:OPTN protein, human; D050683:R-SNARE Proteins; C000606290:SOD1 protein, human; D035582:Transcription Factor TFIIIA; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D003605:D-Amino-Acid Oxidase; C046366:angiogenin; D012259:Ribonuclease, Pancreatic; C522215:FIG4 protein, human; D010744:Phosphoric Monoester Hydrolases; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases