title: A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.
abstract: Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial, and the Cu/Zn superoxide dismutase (SOD1) gene mutation accounts for 20% of them. More than 100 SOD1 mutations have been described, some with peculiar phenotypes. Moreover, mutations in the SOD1 gene have been described in apparently sporadic ALS cases. We report a new mutation (D11Y) in the Cu/Zn superoxide dismutase gene in a patient with ALS and an unusually slow disease progression.
authors.affiliation: Department of Neurology, Nuovo Ospedale Civile S. Agostino Estense, Via Giardini 1355, 41126 Modena, Italy.
authors.forename: Eleni
authors.initials: E
authors.lastname: Georgoulopoulou
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gellera
authors.forename: Cinzia
authors.initials: C
authors.lastname: Bragato
authors.forename: Patrizia
authors.initials: P
authors.lastname: Sola
authors.forename: Annalisa
authors.initials: A
authors.lastname: Chiari
authors.forename: Chiara
authors.initials: C
authors.lastname: Bernabei
authors.forename: Jessica
authors.initials: J
authors.lastname: Mandrioli
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D001224:Aspartic Acid; D001284:Atrophy; D018450:Disease Progression; D004576:Electromyography; D006801:Humans; D007866:Leg; D008297:Male; D018908:Muscle Weakness; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation; D010525:Peripheral Nerves / Q000473:pathology; D010641:Phenotype; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D013997:Time Factors; D014443:Tyrosine
chemical_list: C000606290:SOD1 protein, human; D001224:Aspartic Acid; D014443:Tyrosine; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1