Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation

被引：21
|
作者：
Murakami, T
Mita, S
Tokunaga, M
Maeda, H
Ueyama, H
Kumamoto, T
Uchino, M
Ando, M
机构：
[1] First Dept. of Internal Medicine, Kumamoto Univ. School of Medicine, Kumamoto 860
来源：
JOURNAL OF THE NEUROLOGICAL SCIENCES | 1996年 / 142卷 / 1-2期
关键词：
hereditary cerebellar ataxia; Leber's hereditary optic neuropathy; mtDNA mutation;
D O I：
10.1016/0022-510X(96)00165-7
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We investigated a family with optic atrophy which occurred in childhood or early adulthood plus late-onset cerebellar ataxia. The magnetic resonance imaging in the proband revealed cerebellar atrophy. The proband and her brother were homoplasmic for the most common mitochondrial DNA (mtDNA) 11778 mutation associated with Leber's hereditary optic neuropathy (LHON). This study showed further evidence that central nervous system lesions can occur in cases of LHON mtDNA mutation.
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收藏
页码：111 / 113
页数：3
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