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Article

Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease). Superoxide dismutase 1 genotype and activity.

Archives of neurology - 1 Jan 1997

Robberecht W, Aguirre T, Van den Bosch L, Theys P, Nees H, Cassiman J J, Matthijs G

Abstract excerpt

BACKGROUND: Juvenile focal amyotrophy of the arm is an unusual focal motor neuron disease that is rarely familial. Its pathogenesis is unknown. We recently described a family with amyotrophic lateral sclerosis associated with a mutation in the superoxide dismutase 1 (SOD1) gene substituting an aspartate for an alanine (D9OA). One of the carriers of this mutation had focal and nonprogressive amyotrophy of the arm,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9006413
DOI: 10.1001/archneur.1997.00550130032012

Genes

SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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