[Genetics and clinical study of Chinese kindreds with dentatorubral pallidoluysian atrophy].

作者：Xin Zhang, Ying Hao, Weihong Gu, Yuanyuan Chen, Jin Zhang, Guo-Xiang Wang, Kang Wang, Miao Jin, Xiaohui Duan · 发表于：PubMed · 年份：2013 · DOI：10.3760/cma.j.issn.1003-9406.2013.01.008 · 被引用次数：2 · 研究领域：Genetic Neurodegenerative Diseases、Parkinson's Disease Mechanisms and Treatments、Botulinum Toxin and Related Neurological Disorders

OBJECTIVE: To investigate genetics and clinical characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese kindreds. METHODS: Fragment analysis with laser-induced fluorescence in capillary electrophoresis was performed for the cytosine-adenine-guanine (CAG) repeats of DRPLA gene in 708 probands of autosomal dominant ataxia pedigrees and 119 sporadic ataxia cases. RESULTS: Expanded CAG repeats of DRPLA gene were detected in probands of three ataxia pedigrees, with the numbers of repeats being 16/58, 16/58 and 14/54, respectively. In addition to ataxia, patients with adult-onset disease also exhibited spasm and neck torsion. CONCLUSION: Only three cases of DRPLA have been identified among 827 cases, which suggested that DRPLA is a relatively rare subtype of SCA in Chinese population. Clinical variation among the patients suggested DRPLA has a wide spectrum of phenotype.