Cock H, Mandler R, Ahmed W, Schapira A H
Department of Clinical Neurosciences, Royal Free Hospital School of Medicine, London, UK.
J Neurol Neurosurg Psychiatry. 1997 Jan;62(1):85-7. doi: 10.1136/jnnp.62.1.85.
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.
德维克视神经脊髓炎是一种罕见的综合征，其特征为急性或亚急性视神经炎与横贯性脊髓炎同时出现，在某些情况下被认为是多发性硬化症的一种变异型。在一些以视神经炎为突出早期特征的多发性硬化症患者中，已发现与莱伯遗传性视神经病变（LHON）相关的线粒体DNA（mtDNA）突变。通过聚合酶链反应扩增的mtDNA产物进行限制性酶切消化，在4名德维克视神经脊髓炎女性患者中排除了位于3460 bp、11778 bp和14484 bp处的主要LHON mtDNA突变。在一些LHON家族中与更广泛神经系统疾病相关的4160 bp处的突变也未检测到。结论是，目前与LHON相关的原发性mtDNA突变并非德维克视神经脊髓炎中视神经疾病突出的原因。
