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Article

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

Brain : a journal of neurology - 1 Dec 2012

Sarzi Emmanuelle, Angebault Claire, Seveno Marie, Gueguen Naïg, Chaix Benjamin, Bielicki Guy, Boddaert Nathalie, Mausset-Bonnefont Anne-Laure, Cazevieille Chantal, Rigau Valérie, Renou Jean-Pierre, Wang Jing, Delettre Cécile, Brabet Philippe, Puel Jean-Luc, Hamel Christian P, Reynier Pascal, Lenaers Guy

Abstract excerpt

Dominant optic atrophy is a rare inherited optic nerve degeneration caused by mutations in the mitochondrial fusion gene OPA1. Recently, the clinical spectrum of dominant optic atrophy has been extended to frequent syndromic forms, exhibiting various degrees of neurological and muscle impairments frequently found in mitochondrial diseases. Although characterized by a specific loss of retinal ganglion cells, the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Evoked Potentials, Auditory, Brain Stem

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Share to Optic Atrophy, Autosomal Dominant

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Source

Identifiers

PMID: 23250881
DOI: 10.1093/brain/aws303

Genes

OPA1

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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