Spinocerebellar Ataxia Type 28 (SCA28) is an Uncommon Cause of Dominant Ataxia Among Chinese Kindreds

• Published in: International journal of neuroscience 2012-10, Vol.122 (10), p.560-562
• Main Authors: Jia, Dandan, Tang, Beisha, Chen, Zhao, Shi, Yuting, Sun, Zhanfang, Zhang, Li, Wang, Junling, Xia, Kun, Jiang, Hong
• Format: Article
• Language: English
• Subjects: adca; Adolescent; Adult; afg3l2 gene; Aged; Asian Continental Ancestry Group - genetics; Ataxia - genetics; ATP-Dependent Proteases - genetics; ATPases Associated with Diverse Cellular Activities; Child; Female; Humans; Male; Middle Aged; Mutation; mutation analysis; Polymorphism, Single Nucleotide; sca28; snps; Spinocerebellar Ataxias - congenital; Spinocerebellar Degenerations - genetics
• ISSN: 0020-7454; 1563-5279; 1543-5245
• DOI: 10.3109/00207454.2012.690796

ABSTRACT Autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders primarily affecting the cerebellum. Nearly 33 genetically distinct subtypes have been defined, and 19 seemingly unrelated disease genes have been identified so far. Recently, mutations in the ATPase family gene 3-like 2 (AFG3L2) gene were presented to cause SCA28 subtype. In order to define the frequency of SCA28 mutation in Chinese mainland, we performed molecular genetic analysis in 67 unrelated affected individuals with ADCA. At last, we did not find AFG3L2 gene mutation, except for three known single nucleotide polymorphisms (SNP)s. It suggests that SCA28 subtype is very rare in Chinese mainland.