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’s disease (PD) is a common neurodegenerative disease in middle-aged and elderly people. The degeneration of substantia nigra dopaminergic neurons and the presence of protein inclusion bodies in the residual neurons are pathological features. The clinical manifestations are rest tremor, Slow, muscle rigidity and posture balance disorders. Most studies suggest that PD is a polygenic disease that interacts with genetic predisposition and environmental factors. The pathogenesis-related genes (such as SNCA gene, LRRK2 gene, Parkin gene, UCH-L1 gene, etc.) and their mutation sites are reviewed.