"True" sporadic ALS associated with a novel SOD-1 mutation.
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.
Alexander
Michael D
MD
Department of Neurology, Beaumont Hospital, Beaumont Road, Dublin 9, Ireland. mikealexan@hotmail.com
Traynor
Bryan J
BJ
Miller
Nicole
N
Corr
Bernie
B
Frost
Eithne
E
McQuaid
Shirley
S
Brett
Francesca M
FM
Green
Andrew
A
Hardiman
Orla
O
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
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1