Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease.
Funayama et al. recently identified mutations in the CHCHD2 gene in Japanese families with autosomal dominant Parkinson's disease, increasing our knowledge about the monogenic cause of this disorder. However, there is no report regarding the association between CHCHD2 and Parkinson's disease (PD) in the Chinese Han population. The aim of this study was to obtain the prevalence of CHCHD2 mutations in Chinese familial PD. Genetic analysis of mutations in CHCHD2 gene was conducted in a cohort of 92 families with autosomal dominant Parkinson's disease from mainland China. No mutations in CHCHD2 gene were identified, suggesting that CHCHD2 mutations might not be a common cause of PD in Chinese familial cases.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Zhenhua
Z
Liu
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Changsha, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China.
Jifeng
J
Guo
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Kai
K
Li
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Lixia
L
Qin
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Jifeng
J
Kang
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Li
L
Shu
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Yuan
Y
Zhang
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Yang
Y
Wei
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Nannan
N
Yang
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Yang
Y
Luo
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China.
Qiying
Q
Sun
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China.
Qian
Q
Xu
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China.
Xinxiang
X
Yan
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Changsha, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China. Electronic address: bstang7398@163.com.
Beisha
B
Tang
D044466:Asian People / Q000235:genetics; D015331:Cohort Studies; D004268:DNA-Binding Proteins; D005799:Genes, Dominant / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
C580880:CHCHD2 protein, human; D004268:DNA-Binding Proteins; D024101:Mitochondrial Proteins; D014157:Transcription Factors
CHCHD2; Chinese; Familial PD; Mutation; Parkinson's disease