详情页 - 首都医科大学宣武医院知识库

当前位置：首页 > 详情页

Early-Onset Familial Alzheimer's Disease (EOFAD)

文献详情

资源类型：

WOS体系：

收录情况： ◇ SCIE

作者：

机构： [1]McGill Centre for Studies in Aging (MCSA),Douglas Research Institute, McGill University [2]Translational Neuroimaging Laboratory,Douglas Research Institute, McGill University [3]McConnell Brain Imaging Centre, Montreal Neurological Institute, Montreal,QC [4]Division of Neurology,Faculty of Medicine,University of British Columbia, Vancouver, BC [5]Department of Medical Genetics,University of British Columbia, Vancouver, BC [6]Department of Medicine (Neurology),Brain Sciences Research Program,Sunnybrook Health Sciences Centre,Centre for Addiction and Mental Health, University of Toronto, Toronto, ON, Canada [7]Neurogenetics Section,Centre for Addiction and Mental Health, University of Toronto, Toronto, ON, Canada [8]Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, China

出处：

DOI：

ISSN：

摘要：

Early-onset familial Alzheimer's disease (EOFAD) is a condition characterized by early onset dementia (age at onset < 65 years) and a positive family history for dementia. To date, 230 mutations in presenilin (PSI, PS2) and amyloid precursor protein (APP) genes have been identified in EOFAD. The mutations within these three genes (PS UPS2/APP) affect a common pathogenic pathway in APP synthesis and proteolysis, which lead to excessive production of amyloid beta. Compared with sporadic Alzheimer's disease (AD), EOFAD has some distinctive features including early age at onset, positive familial history, a variety of non-cognitive neurological symptoms and signs, and a more aggressive course. There is marked phenotypic heterogeneity among different mutations of EOFAD. Studies in presymptomatic mutation carriers reveal biomarkers abnormalities. EOFAD diagnosis is based on clinical and family history, neurological symptoms and examination, biomarker features, as well as genotyping in some cases. New therapeutic agents targeting amyloid formation may benefit EOFAD individuals.

基金：

语种：

被引次数：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2011]版：

大类 | 4 区医学

小类 | 4 区临床神经病学

最新[2023]版：

大类 | 4 区医学

小类 | 4 区临床神经病学

JCR分区：

出版当年[2010]版：

Q3 CLINICAL NEUROLOGY

最新[2023]版：

Q2 CLINICAL NEUROLOGY

影响因子： 2.9 最新[2023版] 2.6 最新五年平均 1.179 出版当年[2010版] 1.27 出版当年五年平均 1.041 出版前一年[2009版] 0.968 出版后一年[2011版]

第一作者：

第一作者机构： [1]McGill Centre for Studies in Aging (MCSA),Douglas Research Institute, McGill University [2]Translational Neuroimaging Laboratory,Douglas Research Institute, McGill University

通讯作者：

通讯机构： [*1]McGill Centre for Studies in Aging , McGill University, 6825, Boul. LaSalle Blvd., Montreal, QC, H4H 1R3, Canada.

推荐引用方式(GB/T 7714)：

APA：

MLA：