Leber's hereditary optic neuropathy with the 11778 mtDNA mutation and white matter disease resembling multiple sclerosis: Clinical, MRI and MRS findings

被引：53

作者：

Jansen, PHP

vanderKnaap, MS

deCoo, IFM

机构：

[1] ZIEKENHUIS GELDERSE VALLEI,DEPT NEUROL,EDE,NETHERLANDS

[2] FREE UNIV AMSTERDAM HOSP,DEPT CHILD NEUROL,AMSTERDAM,NETHERLANDS

[3] UNIV NIJMEGEN ST RADBOUD HOSP,INST HUMAN GENET,6500 HB NIJMEGEN,NETHERLANDS

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1996年 / 135卷 / 02期

关键词：

Leber's hereditary optic neuropathy; MRI; MRS; 11778 mitochondrial DNA mutation; multiple sclerosis;

D O I：

10.1016/0022-510X(95)00287-C

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A mother and her son are reported who suffer from Leber's hereditary optic neuropathy (LHON) with the 11778 mtDNA mutation. In both subjects additional clinical and paraclinical evidence of a cerebral demyelinating disease was found. This combination has been reported incidentally in females, rarely in males. Magnetic resonance imaging and proton spectroscopy findings are reported. These findings are compatible with multiple sclerosis.

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页码：176 / 180

页数：5

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