Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population

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• 作者：Zhao Chen^a ; ¹ ; Xiaohui Li^a ; ¹ ; Beisha Tang^a ; ^b ; ^c ; Junling Wang^a ; Yuting Shi^a ; Zhanfang Sun^a ; Li Zhang^a ; Qian Pan^c ; Kun Xia^c ; Hong Jiang^a ; ^b ; ^{jianghong73868@yahoo.com.cn}
• 关键词：SCA27 ; FGF14 ; DHPLC ; Polymorphism ; Mutation
• 刊名：Neuroscience Letters
• 出版年：2012
• 期刊代码：52_03043940
• 类别：neu
• 出版时间：27 June, 2012
• 卷：520
• 期：1
• 页码：16-19
• 文件大小：378 K

摘要

Autosomal dominant cerebellar ataxias (ADCAs), genetically classified into spinocerebellar ataxias (SCAs), are a highly heterogeneous group of neurodegenerative disorders. Recently, mutations in the fibroblast growth factor 14 gene (FGF14) have been reported to cause SCA27 subtype. To evaluate the frequency of FGF14 mutations in mainland of China, we performed molecular genetic analysis in 67 unrelated familial ataxia cases and 500 normal controls by denaturing high-performance liquid chromatography (DHPLC) and DNA direct sequencing. Interestingly, we found a pair of siblings carried the same heterozygous variation (c.-10delC) characterized by different clinical features, which is probably a novel insertion/deletion (I/D) polymorphism in the 5鈥睻TR region of the exon 1b. It suggests that SCA27 is a rare subtype in China.