A Spinocerebellar Ataxia Family with Expanded Alleles in the Tata-Binding Protein Gene and Ataxin-3 Gene

作者：Xu, Qian; Li, Qinghua; Wang, Junling; Jiang, Hong; Shen, Lu; Li, Xiaohui; Tang, Beisha^*

来源：International Journal of Neuroscience, 2010, 120(2): 159-161.

DOI：10.3109/00207450903389149

• DOMINANT CEREBELLAR-ATAXIA
• CAG TRINUCLEOTIDE REPEAT
• REDUCED PENETRANCE
• ITALIAN FAMILIES
• CAG/CAA REPEATS
• EXPANSION
• TYPE-17
• SCA17
• POLYGLUTAMINE
• INSTABILITY

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.

• 出版日期2010-2
• 单位桂林医学院; 中南大学