Tsuchiya K, Watabiki S, Owada K, Uchihara T, Yamamoto M, Hamada K, Misawa A, Taki K
Department of Neurology, Musashino Red Cross Hospital, Tokyo, Japan.
No To Shinkei. 1994 Nov;46(11):1081-6.
We report a pedigree of autosomal dominant spinocerebellar degeneration associated with pigmental retinopathy. The proband is a 75-year-old man. He noticed night blindness at the age of 10 years and a diagnosis of bilateral pigmentary retinopathy was made at age 63. At the age of 65 years, he developed dysarthria and difficulty in walking. At age 69, neurological examination revealed cerebellar signs, and brain CT scans showed mild atrophy of the brain stem and cerebellum. Repeated brain CT scans revealed slight progression of the brain stem and cerebellar atrophy. Molecular genetic studies showed the absence of any mitochondrial DNA mutation at 8993. The father of the proband exhibited cerebellar signs and pigmentary retinopathy. One older brother had cerebellar signs and another had pigmentary retinopathy. To our knowledge, hereditary spinocerebellar degeneration with retinal degeneration is rare in Japan. This study is the first full report on hereditary spinocerebellar degeneration with pigmentary retinopathy in Japan, although an abstract was published by Konishi et al. We also discuss the neuropathological discordance on hereditary olivoponto-cerebellar atrophy with retinal degeneration.
我们报告了一个与色素性视网膜病变相关的常染色体显性遗传性脊髓小脑变性家系。先证者是一名75岁男性。他10岁时出现夜盲，63岁时被诊断为双侧色素性视网膜病变。65岁时，他出现构音障碍和行走困难。69岁时，神经学检查显示有小脑体征，脑部CT扫描显示脑干和小脑轻度萎缩。重复脑部CT扫描显示脑干和小脑萎缩略有进展。分子遗传学研究显示在8993位点不存在任何线粒体DNA突变。先证者的父亲有小脑体征和色素性视网膜病变。一个哥哥有小脑体征，另一个有色素性视网膜病变。据我们所知，在日本，伴有视网膜变性的遗传性脊髓小脑变性很罕见。本研究是日本首例关于伴有色素性视网膜病变的遗传性脊髓小脑变性的完整报告，尽管小西等人发表过一篇摘要。我们还讨论了伴有视网膜变性的遗传性橄榄体脑桥小脑萎缩的神经病理学不一致性。
