NEUROLOGICAL DISORDERS IN MEMBERS OF FAMILIES WITH LEBERS HEREDITARY OPTIC NEUROPATHY (LHON) CAUSED BY DIFFERENT MITOCHONDRIAL MUTATIONS

被引：35

作者：

MEIRE, FM

VANCOSTER, R

COCHAUX, P

OBERMAIERKUSSER, B

CANDAELE, C

MARTIN, JJ

机构：

[1] Department of Pediatric Ophthalmology, University Hospital, Gent

[2] Department of Pediatrics, University Hospital, Gent

[3] Department of Molecular Genetics, Erasmus Hospital of Brussels

[4] Institutes of Clinical Chemistry and Diabetes Research, Academic Hospital Schwabing, Munich

[5] Laboratory of Neuropathology, Universitaire Instellingen Antwerpen, University of Antwerp

来源：

OPHTHALMIC GENETICS | 1995年 / 16卷 / 03期

关键词：

LEBERS HEREDITARY OPTIC NEUROPATHY; MITOCHONDRIAL DNA MUTATIONS; SPASTIC DYSTONIA; NEUROPATHOLOGY; NEURORADIOLOGY;

D O I：

10.3109/13816819509059971

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Neurological abnormalities have been occasionally associated with Leber's hereditary optic neuropathy (LHON). We describe four patients with spastic dystonia from two of our 35 LKON 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.

引用

页码：119 / 126

页数：8

共 17 条

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