Olsen N K, Hansen A W, Nørby S, Edal A L, Jørgensen J R, Rosenberg T
Department of Neurology, Odense University Hospital, Denmark.
Acta Neurol Scand. 1995 May;91(5):326-9. doi: 10.1111/j.1600-0404.1995.tb07016.x.
This report describes a multiple sclerosis (MS)-like disorder in a male patient with Leber's hereditary optic neuropathy (LHON) harbouring the mitochondrial DNA 11778 base pair mutation. Given the population frequencies of MS and LHON, coincidental occurrence is unlikely. Hypothetically the mitochondrial mutation underlying LHON may contribute to presumably immunologically mediated involvement of other myelinated axons in the central nervous system in susceptible individuals, producing a disorder indistinguishable from MS. We recommend that investigation for oligoclonal bands in CSF, evoked potentials and MR brain scan in these patients be supplemented with mitochondrial DNA analysis.
本报告描述了一名患有Leber遗传性视神经病变（LHON）且携带线粒体DNA 11778碱基对突变的男性患者出现的类似多发性硬化症（MS）的病症。鉴于MS和LHON在人群中的发病率，两者巧合发生的可能性不大。从理论上讲，LHON潜在的线粒体突变可能导致易感个体中枢神经系统中其他有髓轴突可能由免疫介导的受累，从而产生一种与MS无法区分的病症。我们建议，对这些患者进行脑脊液寡克隆带、诱发电位和脑部磁共振扫描检查时，应补充线粒体DNA分析。
