Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy

被引：56

作者：

Funalot, B

Reynier, P

Vighetto, A

Ranoux, D

Bonnefont, JP

Godinot, C

Malthièry, Y

Mas, JL

机构：

[1] Hop St Anne, Serv Neurol, F-75014 Paris, France

[2] CHU Angers, Lab Biochim & Biol Mol, Angers, France

[3] Hop Neurol, Serv Neurol C, Lyon, France

[4] Hop Necker Enfants Malad, INSERM, U393, Paris, France

[5] Ctr Genet Mol & Cellulaire, CNRS, Unite Mixte Rech 5534, Villeurbanne, France

来源：

ANNALS OF NEUROLOGY | 2002年 / 52卷 / 03期

关键词：

D O I：

10.1002/ana.10299

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Leber's hereditary optic neuropathy is a mitochondrial disease caused by point mutations in mitochondrial DNA. It usually presents as severe bilateral visual loss in young adults. We report on a neurological disorder resembling Leigh syndrome, which complicated Leber's hereditary optic neuropathy in three unrelated male patients harboring mitochondrial DNA mutations at nucleotide positions 3460, 14459, and 14484, respectively. This Leigh-like encephalopathy appears to be associated with a much more severe outcome than isolated Leber's hereditary optic neuropathy.

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页码：374 / 377

页数：4

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