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Case Reports
. 2002 Nov;52(5):680-3.
doi: 10.1002/ana.10369.

"True" sporadic ALS associated with a novel SOD-1 mutation

Michael D Alexander  1 , Bryan J Traynor, Nicole Miller, Bernie Corr, Eithne Frost, Shirley McQuaid, Francesca M Brett, Andrew Green, Orla Hardiman
Affiliations
Case Reports

"True" sporadic ALS associated with a novel SOD-1 mutation

Michael D Alexander et al. Ann Neurol. 2002 Nov.

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.

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