Sasaki H, Kojima H, Yabe I, Tashiro K, Hamada T, Sawa H, Hiraga H, Nagashima K
Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.
Acta Neuropathol. 1998 Feb;95(2):199-204. doi: 10.1007/s004010050787.
SCA6 is an autosomal dominant spinocerebellar ataxia (SCA) caused by a small CAG repeat expansion of the gene encoding an alpha-1A-voltage-dependent Ca channel gene subunit on chromosome 19p13. A Japanese woman with SCA6, with a 7-year history of progressive pure cerebellar ataxia, died of malignant lymphoma. Systematic neuropathological examination showed that neuronal degeneration was confined to the cerebellar Purkinje cells and, to a lesser degree, the granular cells, without any involvement of other central nervous system structures. Such pathological selectivity correlates with the localized expression of the responsible gene, and coincides with the neurological manifestation. These findings might contribute to establishing the phenotype of the SCA6 via comparison with other dominant ataxias.
脊髓小脑共济失调6型（SCA6）是一种常染色体显性遗传性脊髓小脑共济失调，由位于19号染色体短臂1区3带编码α-1A电压依赖性钙通道基因亚基的基因中的小CAG重复序列扩增所致。一名患有SCA6的日本女性，有7年进行性单纯小脑共济失调病史，死于恶性淋巴瘤。系统神经病理学检查显示，神经元变性局限于小脑浦肯野细胞，程度较轻的还有颗粒细胞，未累及其他中枢神经系统结构。这种病理选择性与致病基因的局部表达相关，并与神经学表现相符。这些发现可能有助于通过与其他显性共济失调进行比较来确定SCA6的表型。
