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Article

Familial amyotrophic lateral sclerosis

1 Dec 1997

Abstract excerpt

We report the clinical, genetic, and neuropathologic findings in a patient with rapidly progressive familial amyotrophic lateral sclerosis (ALS). We detected a point mutation at codon 48 of the Cu/Zn superoxide dismutase gene (SOD1) leading to a substitution of histidine by glutamine in the copper-binding domain. The histopathologic features are consistent with those described in rapidly progressive sporadic ALS...

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PMID: 9409355
DOI: 10.1212/wnl.49.6.1612

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