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Article

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis.

Annals of neurology - 1 Feb 2002

Corcia Philippe, Mayeux-Portas Véronique, Khoris Jawad, de Toffol Bertrand, Autret Alain, Müh Jean-Pierre, Camu William, Andres Christian

Abstract excerpt

The etiology of amyotrophic lateral sclerosis remains unknown in the majority of cases. Homozygous SMN1 (survival motor neuron) gene deletion causes spinal muscular atrophy, and SMN2 gene deletions are possible risk factors in lower motor neuron disease. We studied SMN1 and SMN2 genes copy numbers in 167 amyotrophic lateral sclerosis patients and in 167 matched controls. We noted that 16% of amyotrophic lateral...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11835381
DOI: 10.1002/ana.10104

Genes

SMN1
SMN2

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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