Neuromyelitis optica (Devic's syndrome): No association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy

被引:16
作者
Cock, H
Mandler, R
Ahmed, W
Schapira, AHV
机构
[1] ROYAL FREE HOSP,SCH MED,DEPT CLIN NEUROSCI,LONDON NW3 2PF,ENGLAND
[2] UNIV NEW MEXICO,DEPT NEUROL,ALBUQUERQUE,NM 87131
[3] UNIV LONDON,INST NEUROL,DEPT CLIN NEUROL,LONDON WC1N 3BG,ENGLAND
关键词
Devic's neuromyelitis optica; Leber hereditary optic neuropathy; mitochondrial DNA; multiple sclerosis;
D O I
10.1136/jnnp.62.1.85
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Devic's neuromyelitis optica is a rare syndrome characterised by the combination of acute or subacute optic neuritis and transverse myelitis, in some cases considered to be a variant of multiple sclerosis. Mutations of mitochondrial DNA (mtDNA) associated with Leber hereditary optic neuropathy (LHON) have been identified in some patients with multiple sclerosis in whom optic neuritis is a prominent early feature. Using restriction enzyme digestion of mtDNA products amplified by the polymerase chain reaction, the primary LHON mtDNA mutations at positions 3460 bp, 11 778 bp, and 14 484 bp have been excluded in four women with Devic's neuromyelitis optica. A mutation at 4160 bp associated in some LHON families with more widespread neurological disease was also not detected. It is concluded that the primary mtDNA mutations currently associated with LHON are not responsible for the prominence of optic nerve disease in Devic's neuromyelitis optica.
引用
收藏
页码:85 / 87
页数:3
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