C9ORF72 repeat expansions in Chinese patients with Parkinson’s disease and multiple system atrophy

Chen Xueping Chen Yong Ping Wei Q. Ou Ruwei Cao Bei Zhao Bi Shang Huifang · 2016

阅读量：317

c9orf72

期刊名称：

Journal of Neural Transmission 2016 年 123 卷 11 期

发表日期：

2016.11.01

摘要：

The hexanucleotide repeat expansions in the C9ORF72 gene has been found in some patients with atypical Parkinsonism. A number of hexanucleotide repeats were examined in a Chinese population, including 619 patients with Parkinson???s disease (PD), 381 patients with multiple system atrophy (MSA), and 632 healthy controls. We did not identify any pathogenic repeat expansions in either patients or controls, and any associations between repeats number and disease risk. C9ORF72 expansions are not involved the wider spectrum of Parkinsonism.