Funakawa I, Kato H, Terao A, Ichihashi K, Kawashima S, Hayashi T, Mitani K, Miyazaki S
Department of Internal Medicine, Kawasaki Medical School, Okayama, Japan.
J Neurol. 1995 Jan;242(2):75-7. doi: 10.1007/BF00887819.
We report the cases of a mother and son with Leber's hereditary optic neuropathy (LHON), where a point mutation of mitochondria DNA from guanine to adenine on nucleotide position 11778 was verified. Both also had cerebellar ataxia and dysarthria and in both cases cerebellar atrophies were detected by computed tomography or magnetic resonance imaging. It was not possible to elucidate the relationship between LHON and the cerebellar atrophy, but it should be kept in mind that various neurological complications may occur in LHON.
我们报告了一对患有Leber遗传性视神经病变（LHON）的母子病例，其中线粒体DNA在核苷酸位置11778处发生了从鸟嘌呤到腺嘌呤的点突变得到了证实。两人还都患有小脑共济失调和构音障碍，并且在这两个病例中通过计算机断层扫描或磁共振成像检测到了小脑萎缩。无法阐明LHON与小脑萎缩之间的关系，但应该记住，LHON可能会出现各种神经系统并发症。
