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Article

Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.

Annals of neurology - 1 Nov 2005

Kress Julia A, Kühnlein Peter, Winter Pia, Ludolph Albert C, Kassubek Jan, Müller Ulrich, Sperfeld Anne-Dorte

Abstract excerpt

We present a 32-year-old Turkish male with juvenile amyotrophic lateral sclerosis 2 and a previously unrecognized homozygous deletion in exon 4 of the ALS2 gene (553delA). Disease progression is more rapid than in the ALS2 phenotype cases described to date. The patient's consanguineous parents carry the mutation in the heterozygous state as do his two unaffected brothers.

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Source

Identifiers

PMID: 16240357
DOI: 10.1002/ana.20665

Genes

ALS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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