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Article

Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.

Multiple sclerosis (Houndmills, Basingstoke, England) - 1 Feb 2012

Sitarz Kamil S, Yu-Wai-Man Patrick, Hudson Gavin, Jacob Anu, Boggild Mike, Horvath Rita, Chinnery Patrick F

Abstract excerpt

Neuromyelitis optica (NMO) is an idiopathic demyelinating disease which predominantly affects the optic nerve and spinal cord. Multiplex NMO pedigrees have been reported but the genetic risk factors conferring this increased familial susceptibility have not yet been determined. OPA1 mutations have recently been identified in families with progressive visual failure and spastic paraparesis, raising the possibility...

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Share to OPA1 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 21828197
DOI: 10.1177/1352458511416838
PMCID: PMC4040403

Genes

OPA1

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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Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.PMID 21828197Read ↗

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Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.Semantic proximity Read ↗

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A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.Semantic proximity Read ↗

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