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Article

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

Annals of neurology - 1 Nov 2002

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

Abstract excerpt

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...

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Identifiers

PMID: 12402272
DOI: 10.1002/ana.10369

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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