Journal
ANNALS OF NEUROLOGY
Volume 52, Issue 5, Pages 680-683Publisher
WILEY-LISS
DOI: 10.1002/ana.10369
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Mutations in the Cu/Zn superoxide dismutase gene (SOD-1) arc 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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