Suppr超能文献

阿尔茨海默病的临床遗传学

Clinical genetics of Alzheimer's disease.

作者信息

Zou Zhangyu, Liu Changyun, Che Chunhui, Huang Huapin

机构信息

Department of Neurology, Fujian Medical University Union Hospital, Fuzhou 350001, China.

出版信息

Biomed Res Int. 2014;2014:291862. doi: 10.1155/2014/291862. Epub 2014 May 13.

Abstract

Alzheimer's disease (AD) is the most common progressive neurodegenerative disease and the most common form of dementia in the elderly. It is a complex disorder with environmental and genetic components. There are two major types of AD, early onset and the more common late onset. The genetics of early-onset AD are largely understood with mutations in three different genes leading to the disease. In contrast, while susceptibility loci and alleles associated with late-onset AD have been identified using genetic association studies, the genetics of late-onset Alzheimer's disease are not fully understood. Here we review the known genetics of early- and late-onset AD, the clinical features of EOAD according to genotypes, and the clinical implications of the genetics of AD.

摘要

阿尔茨海默病(AD)是最常见的进行性神经退行性疾病,也是老年人中最常见的痴呆形式。它是一种具有环境和遗传因素的复杂疾病。AD主要有两种类型,早发型和更常见的晚发型。早发型AD的遗传学在很大程度上已被了解,三种不同基因的突变会导致该病。相比之下,虽然通过基因关联研究已确定了与晚发型AD相关的易感基因座和等位基因,但晚发型阿尔茨海默病的遗传学尚未完全明了。在此,我们综述早发型和晚发型AD的已知遗传学、根据基因型划分的早发型AD的临床特征以及AD遗传学的临床意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d05/4052685/8d067a20157d/BMRI2014-291862.001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验