Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Int J Neurosci. 2010 Feb;120(2):159-61. doi: 10.3109/00207450903389149.
We report on a Chinese family with three members who have CAG repeat expansion in the ataxin-3, two members present with expanded trinucleotide repeat in both the ataxin-3 and tata-binding protein (TBP) and an individual who carries expanded CAG/CAA repeat in the TBP. Only the patients who carry an allele with expansion in the ataxin-3 gene presented with clinical symptoms. This interesting family presents a unique mutation state. We will continue to track this family in the future, which may help us further elucidate the pathogenic mechanism of spinocerebellar ataxia (SCA) type 3 and 17. The study also provides us a novel conception that mutations from two pathogenetic genes may coexist in one patient and SCA-affected patients with intermediate allele need to be further excluded for other SCA subtypes.
我们报道了一个中国家族，该家族中有 3 名成员的 ataxin-3 基因 CAG 重复扩展，其中 2 名成员的 ataxin-3 和 TATA 结合蛋白 (TBP) 中均存在扩展的三核苷酸重复，还有 1 名个体的 TBP 中存在扩展的 CAG/CAA 重复。只有携带 ataxin-3 基因中扩增等位基因的患者出现了临床症状。这个有趣的家族呈现出独特的突变状态。我们将在未来继续跟踪这个家族，这可能有助于我们进一步阐明脊髓小脑共济失调（SCA）3 型和 17 型的发病机制。该研究还为我们提供了一个新的概念，即两个致病基因的突变可能共存于一个患者中，需要进一步排除中间等位基因的 SCA 患者的其他 SCA 亚型。
