Izumi Y, Sawada H, Matsuyama Z, Kawakami H, Udaka F, Nakamura S, Kameyama M
Department of Neurology, Sumitomo Hospital, Osaka, Japan.
No To Shinkei. 1999 Feb;51(2):167-70.
We reported a 73-year-old woman of spinocerebellar ataxia 6 (SCA 6). There was no family history of neurological diseases. She demonstrated cerebellar ataxia and scanning speech at the age of 48. These symptoms gradually developed. Brain MRI showed severe cerebellar atrophy and no abnormality in the brain stem. Her neurological symptoms and MRI findings were compatible with cerebellocortical atrophy (CCA). Analysis of the CACNL1A4 gene on chromosome 19p 13 demonstrated she had an expanded allele with 27 CAG repeats. Therefore, she was diagnosed with SCA 6. In spite of her large CAG expansion, there was no family history of SCA 6 in this case. SCA 6 needs to be ruled out in cases of clinical CCA.
我们报告了一名73岁患有脊髓小脑共济失调6型（SCA 6）的女性。她没有神经疾病家族史。她在48岁时出现小脑共济失调和断续性言语。这些症状逐渐发展。脑部磁共振成像（MRI）显示严重的小脑萎缩，脑干无异常。她的神经症状和MRI表现与小脑皮质萎缩（CCA）相符。对19号染色体短臂1区3带（19p 13）上的CACNL1A4基因分析表明，她有一个含有27个CAG重复序列的扩展等位基因。因此，她被诊断为SCA 6。尽管她的CAG重复序列大幅扩展，但该病例中并无SCA 6家族史。临床诊断为CCA的病例需要排除SCA 6。
