title: Identification of CHCHD10 Mutation in Chinese Patients with Alzheimer Disease.
abstract: CHCHD10 gene has been identified to be associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Considering the clinical phenotype and pathology characterization were overlapped between FTD and Alzheimer disease (AD), and so far, no systematic analysis of CHCHD10 mutation was conducted in patients with AD in Asian population. Therefore, we screened of all exons in CHCHD10 in a cohort of 484 AD patients (60 with family history) from Mainland China. A heterozygous variant p.A35D (c.104C>A), previously reported in a patient with FTD in Italian population, was identified in a female patient with sporadic LOAD. The age at onset of mutation carrier was 86, presented as typical amnestic dementia. The mutation was found to be deleterious according to in silico predictions and excluded in 500 ethnically and geographically matched controls. Our finding revealed the clinical manifestations of variant p.A35D (c.104C>A) in a LOAD case and indicated that CHCHD10 mutation was presented in different types of dementia.
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: Tingting
authors: T
authors: Xiao
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: Bin
authors: B
authors: Jiao
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: Weiwei
authors: W
authors: Zhang
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: Chuzheng
authors: C
authors: Pan
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: Jingya
authors: J
authors: Wei
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: Xiaoyan
authors: X
authors: Liu
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.|Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
authors: Yafang
authors: Y
authors: Zhou
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.|Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
authors: Lin
authors: L
authors: Zhou
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.|Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.|State Key Laboratory of Medical Genetics, Changsha, China.
authors: Beisha
authors: B
authors: Tang
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China. shenlu2505@126.com.|Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China. shenlu2505@126.com.|State Key Laboratory of Medical Genetics, Changsha, China. shenlu2505@126.com.
authors: Lu
authors: L
authors: Shen
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
chemical_list: C554426:CHCHD10 protein, human; D024101:Mitochondrial Proteins
keywords: Alzheimer’s disease; CHCHD10