title: Genetic analysis of the CHCHD2 gene in Chinese patients with familial essential tremor.
abstract: Recently, Funayama et al. identified CHCHD2 as a novel causative gene of Parkinson disease (PD). However, the relationship between CHCHD2 and essential tremor (ET) patients was still unknown. Genetic analysis of CHCHD2 gene was conducted in 60 probands of ET families with autosomal dominant inheritance and 90 healthy controls in Chinese population. No pathogenic CHCHD2 mutation was found in ET patients. However, we identified one rare variant, c.5C>T, a reported risk variant for sporadic PD in Japanese populations, and examined the frequency of three common variants. Our results suggested that CHCHD2 mutations may be rare in Chinese familial ET patients.
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China.
authors.forename: Hongwei
authors.initials: H
authors.lastname: Wu
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China; Department of Neurology, Zhejiang Hospital, 12 Lingyin Road, Hangzhou, Zhejiang Province 3100013, China.
authors.forename: Xingjiao
authors.initials: X
authors.lastname: Lu
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China.
authors.forename: Zhidong
authors.initials: Z
authors.lastname: Cen
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China; Department of Neurology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, 3 East Qingchun Road, Hangzhou, Zhejiang Province 310016, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Xie
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China.
authors.forename: Xiaosheng
authors.initials: X
authors.lastname: Zheng
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China.
authors.forename: You
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China. Electronic address: luoweirock@126.com.
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
mesh_terms: D044466:Asian People; D016022:Case-Control Studies; D004268:DNA-Binding Proteins; D020329:Essential Tremor / Q000208:ethnology / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics; D012306:Risk; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C580880:CHCHD2 protein, human; D004268:DNA-Binding Proteins; D024101:Mitochondrial Proteins; D014157:Transcription Factors
keywords: CHCHD2; Chinese population; Essential tremor; Parkinson disease