Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease

CORC > 昆明动物研究所 > 昆明动物研究所 > 动物模型与人类重大疾病机理重点实验室 > 重大疾病机理的遗传学

	Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease
	Jiang HY 1,2; Li GD 3,4; Dai SX 4,5; Bi R 3,4; Zhang DF 3,4; Li ZF 6; Xu XF 2; Zhou TC 1,5; Yu L[]1; Yao YG[]3,4,7
刊名	NEUROBIOLOGY OF AGING
	2015
卷号	36 期号:3 页码:1602.e3-6
关键词	Early-onset familial Alzheimer's disease Mutation PSEN1 Chinese
通讯作者	yuli-1220@163.com ; yaoyg@mail.kiz.ac.cn
合作状况	其它
英文摘要	Early-onset familial Alzheimer's disease (EOFAD) is characterized by the onset of dementia symptoms before 65 years, positive family history, high genetic predisposition, and an autosomal dominant inheritance. We aimed to investigate mutations and to characterize phenotypes in Chinese EOFAD families. Detailed clinical assessments and genetic screening for mutations in the presenilin 1 (PSEN1), presenilin 2, amyloid precursor protein, and APOE genes were carried out in 4 EOFAD families. Two PSEN1 mutations (p.R352C and p.M233L) were identified in 2 EOFAD families, respectively. Mutation p.M233L was associated with prominent very early onset, rapidly progressive dementia, and neurologic symptoms, whereas p.R352C was associated with a progressive dementia, psychiatric syndrome, and chronic disease course. Both mutations are predicted to be pathogenic. Our results showed that mutations in PSEN1 gene might be common in Chinese EOFAD families.
收录类别	SCI
资助信息	This study was supported by the Strategic Priority Research Program (B) of the Chinese Academy of Sciences (XDB02020300 to Yong-Gang Yao) and the National Program for Support of Top-notch Young Professionals (to Li Yu). The authors thank the individuals who participated in this study.
语种	英语
公开日期	2015-06-08
内容类型	期刊论文
源URL	[http://159.226.149.42:8088/handle/152453/8344]
专题	昆明动物研究所_重大疾病机理的遗传学昆明动物研究所_动物模型与人类重大疾病机理重点实验室昆明动物研究所_遗传资源与进化国家重点实验室昆明动物研究所_结构生物信息学
作者单位	1.Laboratory for Conservation and Utilization of Bioresource & Key Laboratory for Microbial Resources of the Ministry of Education, Yunnan University, Kunming, Yunnan, China 2.Department of Psychiatry, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China 3.Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China 4.Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan, P.R. China 5.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China 6.Department of Radiology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China 7.CAS Center for Excellence in Brain Science, Chinese Academy of Sciences, Shanghai, 200031, China
推荐引用方式 GB/T 7714	Jiang HY,Li GD,Dai SX,et al. Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease[J]. NEUROBIOLOGY OF AGING,2015,36(3):1602.e3-6.
APA	Jiang HY.,Li GD.,Dai SX.,Bi R.,Zhang DF.,...&Yao YG[*].(2015).Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease.NEUROBIOLOGY OF AGING,36(3),1602.e3-6.
MLA	Jiang HY,et al."Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease".NEUROBIOLOGY OF AGING 36.3(2015):1602.e3-6.