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Neurological disorders in members of families with leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations

par Meire, Françoise ;Candaele, Chantal M L J C.;Van Coster, Rudy;Cochaux, Pascale ;Obermaier-Kusser, Bert;Martin, Jean-Jacques
Référence Ophthalmic genetics, 16, 3, page (119-126)
Publication Publié, 1995

Article révisé par les pairs

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Résumé :

four patients with spastic dystonia from two of our 35 lhon families. Magnetic resonance imaging revealed signal alterations of globus pallidus, putamen, internal capsula, and substantia nigra. Neuropathological findings in one of the patients with dystonia are described. Each of the dystonia families carries a different mtDNA mutation; one at np 3460 and one at np 11778. Periventricular multiple sclerosis-like white matter lesions were observed in one individual from a third family with the mtDNA 3460 mutation. Neurological disorders are probably underestimated in association with lhon. © 1995 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.