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"True" sporadic ALS associated with a novel SOD-1 mutation
Michael D Alexander1, Bryan J Traynor, Nicole Miller
1Department of Neurology, Beaumont Hospital, Beaumont Road, Dublin 9, Ireland. mikealexan@hotmail.com
Annals of Neurology
|October 29, 2002
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.