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Article dans une revue

Multiple Sclerosis–Like Disorder in Opa1-Related Autosomal Dominant Optic Atrophy

Abstract :

Autosomal dominant optic atrophy (ADOA) is a progressive ophthalmologic disorder caused in two-thirds of the cases by a mutation in the optic atrophhy 1 (IPA1) gene, a nuclear gene encoding a mitochondrial protein. We report a patient in whom an OPA1 mutation was responsible for a bilateral optic atrophy associated with multiple sclerosis-like (MSL) features. In addition, biochemical studies performed on fibroblasts from this patient showed a significant mitochondrial coupling defect associated with reduced ATP production and respiratory function in comparison to controls.

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Article dans une revue
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https://hal.univ-angers.fr/hal-03419056
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Soumis le : lundi 8 novembre 2021 - 11:44:12
Dernière modification le : vendredi 17 juin 2022 - 14:18:20

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Christophe Verny, Dominique Loiseau, Clarisse Scherer, P. Lejeune, Arnaud Chevrollier, et al.. Multiple Sclerosis–Like Disorder in Opa1-Related Autosomal Dominant Optic Atrophy. Neurology, American Academy of Neurology, 2008, 70 (13 Part 2), pp.1152 - 1153. ⟨10.1212/01.wnl.0000289194.89359.a1⟩. ⟨hal-03419056⟩

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