Mutation analysis of CHCHD2 gene in Chinese Han familial essential tremor patients and familial Parkinson's disease patients

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• 作者：Chao Gao^a ; ^b ; ¹ ; Yi-Meng Chen^a ; ^c ; ¹ ; Qian Sun^a ; Ya-Chao He^a ; Pei Huang^a ; Tian Wang^a ; Dun-Hui Li^a ; Liang Liang^a ; Jun Liu^a ; Qin Xiao^a ; Sheng-Di Chen^a ; ^b ; ^c ; ^{chen_sd@medmail.com.cn}
• 关键词：CHCHD2 ; Familial ET ; ADPD ; Variants ; Chinese
• 刊名：Neurobiology of Aging
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：49
• 期：Complete
• 页码：218.e9-218.e11
• 全文大小：456 K
• 卷排序：49

文摘

CHCHD2 is the latest identified Parkinson's disease (PD)-causing gene, and previous studies have reported the same CHCHD2 variant (182C>T, Thr61Ile) in both PD and essential tremor (ET) patients. Whether CHCHD2 gene mutations are involved in both of these diseases remains unclear. We sequenced CHCHD2 gene in 171 familial ET patients, 133 autosomal dominant Parkinson's disease patients, and 211 normal controls. No pathogenic mutations were found, suggesting that CHCHD2 gene may not play a major role in our familial Chinese Han ET and PD patients.