title: Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.
abstract: This study has identified a gene mutation in a Chinese family with Alzheimer's disease (AD). Family members were screened by a set of medical examinations and neuropsychological tests. Their DNA was extracted from blood cells and sequenced for gene mutation in the amyloid precursor protein (APP), the presenilin 1 (PS1) and the presenilin 2 (PS2) genes. Genetic analysis showed that the AD patients in the family harbored a T to G missense mutation at the position 314 in exon 4 of the PS1 gene, resulting in a change of F105C in amino acid sequence. Clinical manifestation of these patients included memory loss, counting difficulty, personality change, disorientation, dyscalculia, agnosia, aphasia, and apraxia, which was similar to that of the familial AD (FAD) patients harboring other PS1 mutations. We intend to add a novel mutation F105C of the PS1 gene to the pool of FAD mutations. With the current available genetic data, mutations of the PS1 gene account for the majority of gene mutations in Chinese FAD.
authors.affiliation: Department of Neurology and Centre for Clinical Neuroscience, Daping Hospital, Third Military Medical University, Chongqing, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Deng
authors.forename: Yan
authors.initials: Y
authors.lastname: Lian
authors.forename: Xin
authors.initials: X
authors.lastname: Wang
authors.forename: Fan
authors.initials: F
authors.lastname: Zeng
authors.forename: Bin
authors.initials: B
authors.lastname: Jiao
authors.forename: Ye-Ran
authors.initials: YR
authors.lastname: Wang
authors.forename: Chun-Rong
authors.initials: CR
authors.lastname: Liang
authors.forename: Yu-Hui
authors.initials: YH
authors.lastname: Liu
authors.forename: Xian-Le
authors.initials: XL
authors.lastname: Bu
authors.forename: Xiu-Qing
authors.initials: XQ
authors.lastname: Yao
authors.forename: Chi
authors.initials: C
authors.lastname: Zhu
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Hua-Dong
authors.initials: HD
authors.lastname: Zhou
authors.forename: Tao
authors.initials: T
authors.lastname: Zhang
authors.forename: Yan-Jiang
authors.initials: YJ
authors.lastname: Wang
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D044466:Asian People; D001921:Brain / Q000473:pathology; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009483:Neuropsychological Tests; D010375:Pedigree; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1
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