Nakagawa N, Katayama T, Makita Y, Kuroda K, Aizawa H, Kikuchi K
First Department of Internal Medicine, Asahikawa Medical College, Japan.
Neuroradiology. 1999 Jul;41(7):501-3. doi: 10.1007/s002340050791.
Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant, slowly progressive cerebellar ataxia without multisystem involvement. We report a 57-year-old woman with genetically confirmed SCA6 who showed clinical features of olivopontocerebellar atrophy. Conventional T2-weighted and FLAIR MRI demonstrated high signal in the middle cerebellar peduncles, in addition to mild atrophy of the pons and cerebellum.
6型脊髓小脑共济失调(SCA6)是一种常染色体显性遗传、缓慢进展的小脑共济失调,不累及多系统。我们报告了一名57岁经基因确诊为SCA6的女性,其表现出橄榄脑桥小脑萎缩的临床特征。传统的T2加权和液体衰减反转恢复序列(FLAIR)磁共振成像(MRI)显示,除脑桥和小脑轻度萎缩外,小脑中脚呈高信号。