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Ann Neurol. 2002 Nov;52(5):680-3.

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

Author information

1
Department of Neurology, Beaumont Hospital, Beaumont Road, Dublin 9, Ireland. mikealexan@hotmail.com

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.

PMID:
12402272
DOI:
10.1002/ana.10369
[Indexed for MEDLINE]

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