title: "True" sporadic ALS associated with a novel SOD-1 mutation.
abstract: Mutations in the Cu/Zn superoxide dismutase gene (SOD-1) are reported in 20% of familial amyotrophic lateral sclerosis (ALS) cases, but no definite report of a mutation in a "truly" sporadic case of ALS has been proved. We present the first case of a novel SOD-1 mutation in a patient with genetically proven sporadic ALS. This mutation (H80A) is believed to alter zinc ligand binding, and its functional significance correlates well with the aggressive clinical course and postmortem findings observed in this patient.
authors.affiliation: Department of Neurology, Beaumont Hospital, Beaumont Road, Dublin 9, Ireland. mikealexan@hotmail.com
authors.forename: Michael D
authors.initials: MD
authors.lastname: Alexander
authors.forename: Bryan J
authors.initials: BJ
authors.lastname: Traynor
authors.forename: Nicole
authors.initials: N
authors.lastname: Miller
authors.forename: Bernie
authors.initials: B
authors.lastname: Corr
authors.forename: Eithne
authors.initials: E
authors.lastname: Frost
authors.forename: Shirley
authors.initials: S
authors.lastname: McQuaid
authors.forename: Francesca M
authors.initials: FM
authors.lastname: Brett
authors.forename: Andrew
authors.initials: A
authors.lastname: Green
authors.forename: Orla
authors.initials: O
authors.lastname: Hardiman
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1