Department of Neurology, Xiangya Hospital, Central South University Changsha, Hunan, China.
Int J Neurosci. 2012 Oct;122(10):560-2. doi: 10.3109/00207454.2012.690796. Epub 2012 Jun 22.
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.
常染色体显性小脑共济失调（ADCAs）是一组主要影响小脑的临床和遗传异质性神经退行性疾病。目前已经定义了近 33 种遗传上不同的亚型，并且已经确定了 19 种看似无关的疾病基因。最近，ATP 酶家族基因 3 样 2（AFG3L2）基因突变被认为是 SCA28 亚型的原因。为了确定中国大陆 SCA28 突变的频率，我们对 67 名无关联的 ADCAs 患者进行了分子遗传学分析。最后，我们除了发现三个已知的单核苷酸多态性（SNP）外，没有发现 AFG3L2 基因突变。这表明 SCA28 亚型在中国大陆非常罕见。
