Nagai Y, Azuma T, Funauchi M, Fujita M, Umi M, Hirano M, Matsubara T, Ueno S
Second Department of Internal Medicine (Neurology), Osaka Medical Center For Cancer and Cardiovascular Diseases, Japan.
J Neurol Sci. 1998 Apr 15;157(1):52-9. doi: 10.1016/s0022-510x(98)00044-6.
We report on seven Japanese families with spinocerebellar ataxia type 6 (SCA6) carrying small CAG repeat expansions in the calcium channel alpha1A subunit gene. The number of the expanded CAG repeat, ranged from 22 to 25, showed no intergenerational instability and had a significant inverse correlation with the age of onset. The clinical features of these patients were late onset progressive pure cerebellar ataxia with dysarthria and nystagmus, and are consistent with autosomal dominant cerebellar ataxia type III (ADCA type III). Magnetic resonance imaging scan of the brain demonstrated cerebellar atrophy with no evidence of brainstem involvement. We propose that clinical phenotype of SCA6 is compatible with ADCA type III and SCA6 is one of the most common types of ADCA in Japan.
我们报告了7个患有6型脊髓小脑共济失调（SCA6）的日本家族，这些家族在钙通道α1A亚基基因中存在小的CAG重复扩增。扩增的CAG重复序列数量在22至25之间，未显示出代际不稳定性，且与发病年龄呈显著负相关。这些患者的临床特征为迟发性进行性单纯小脑共济失调，伴有构音障碍和眼球震颤，与常染色体显性遗传性小脑共济失调III型（ADCA III型）一致。脑部磁共振成像扫描显示小脑萎缩，无脑干受累迹象。我们认为SCA6的临床表型与ADCA III型相符，且SCA6是日本最常见的ADCA类型之一。
