帕金森病易感基因的研究进展  

Advance of Susceptible Genes of Parkinson Disease

作　　者：张留福[1] 朱幼玲[1] 

机构地区：[1]安徽医科大学第三附属医院合肥市第一人民医院神经内科,合肥230061

出　　处：《医学综述》2012年第4期515-518,共4页Medical Recapitulate

摘　　要：帕金森病(PD)是中老龄人中一种常见的神经退行性疾病,以黑质多巴胺能神经元变性缺失和残存神经元中出现蛋白包涵体为病理特征,临床表现为静止性震颤、运动迟缓、肌强直和姿势平衡障碍等。多数研究认为PD是由遗传易感性和环境因素共同作用的多基因疾病。现就与PD发病相关的基因(如SNCA基因、LRRK2基因、Parkin基因、UCH-L1基因等)及其突变位点的研究予以综述。Parkinson disease（PD）is a common neurodegenerative disease in older population characterized by dopamine neuronal degeneration and protein inclusion bodies in remaining neuron.The person with PD may have resting tremor,bradykinesia,rigidity and postural instability.PD is known as a polygenetic disease in which genetic susceptibility and environmental factors may play important roles.Here is to make a review on some susceptibility genes associated with PD including SNCA,LRRK2,Parkin,UCH-L1,and their mutations or polymorphisms.

关 键 词：帕金森病 易感基因 基因突变 多态性 

分 类 号：R741[医药卫生—神经病学与精神病学]