Zou Zhangyu, Liu Changyun, Che Chunhui, Huang Huapin
Department of Neurology, Fujian Medical University Union Hospital, Fuzhou 350001, China.
Biomed Res Int. 2014;2014:291862. doi: 10.1155/2014/291862. Epub 2014 May 13.
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.
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。