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Article

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Mar 2011

Belzil Véronique V, Daoud Hussein, Desjarlais Anne, Bouchard Jean-Pierre, Dupré Nicolas, Camu William, Dion Patrick A, Rouleau Guy A

Abstract excerpt

Mutations in the OPTN gene are well known to be associated with the development of glaucoma. Recently, unique variations in the same gene have been reported in familial and sporadic Japanese cases of amyotrophic lateral sclerosis (ALS). We set out to evaluate the frequency of OPTN mutations in a...

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Source

Identifiers

PMID: 21074290
DOI: 10.1016/j.neurobiolaging.2010.10.001

Genes

OPTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21074290-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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