A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

被引：376

作者：

Wiseman, Frances K. ^{[1
]}

Al-Janabi, Tamara ^{[2
]}

Hardy, John ^{[3
]}

Karmiloff-Smith, Annette ^{[4
]}

Nizetic, Dean ^{[5
,6
]}

Tybulewicz, Victor L. J. ^{[7
]}

Fisher, Elizabeth M. C. ^{[1
]}

Strydom, Andre ^{[2
]}

机构：

[1] UCL, Inst Neurol, Dept Neurodegenerat Dis, London WC1N 3BG, England

[2] UCL, Div Psychiat, London W1T 7NF, England

[3] UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[4] Univ London, Ctr Brain & Cognit Dev, London WC1E 7HX, England

[5] Nanyang Technol Univ, Lee Kong Chian Sch Med, Singapore 308232, Singapore

[6] Queen Mary Univ London, Blizard Inst, Barts & London Sch Med, London E1 2AT, England

[7] Francis Crick Inst, London NW7 1AA, England

来源：

NATURE REVIEWS NEUROSCIENCE | 2015年 / 16卷 / 09期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

AMYLOID PRECURSOR PROTEIN; APP LOCUS DUPLICATION; POSITRON-EMISSION-TOMOGRAPHY; PAIRED HELICAL FILAMENTS; PITTSBURGH COMPOUND B; A-BETA DEPOSITION; APOLIPOPROTEIN-E; MOUSE MODEL; NEUROFIBRILLARY TANGLES; COGNITIVE DECLINE;

D O I：

10.1038/nrn3983

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that this risk is conferred by the presence of three copies of the gene encoding amyloid precursor protein (APP)-an Alzheimer disease risk factor-although the possession of extra copies of other chromosome 21 genes may also play a part. Further study of the mechanisms underlying the development of Alzheimer disease in people with Down syndrome could provide insights into the mechanisms that cause dementia in the general population.

引用

页码：564 / 574

页数：11

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