摘要
帕金森病(PD)是一种严重威胁中老年人健康和生活质量的神经功能障碍性疾病。目前,已有多个PD致病基因被识别和克隆:PARK1、PARK2、PARK6、PARK7、PARK8等。各PD致病基因有着不同的染色体、细胞定位,编码不同的蛋白分布在人类大脑的不同区域,通过不同的发病机制对PD产生影响,致使PD患者间的临床表现也不尽相同。本文对上述5个基因的临床表型研究进展进行综述,为PD的个体化诊断、治疗及预后提供参考。
Parkinson＇ s disease is a nerve dysfunction disease which seriously threaten to the health and quality of life of the elderly. Currently, there are multiple PD pathogenic genes, such as PARK 1, PARK 2, PARK 6, PARK 7 and PARK 8, have been identified and cloned. Each of them have different chromosome and cellular localization, encoding different protein distribution in different areas of the human brain, contributing to PD through the different pathogenesis, and eventually leading to different clinical manifestation among PD patients. The research progresses on the clinical phenotypic of above five genes provided reference for PD individualized diagnosis, treatment and prognosis were summarized.
出处
《中国临床神经科学》
2013年第1期109-114,共6页
Chinese Journal of Clinical Neurosciences
基金
兵团科技计划资助项目(编号:2011 BA047)
关键词
帕金森病
致病基因
基因表型
Parkinson＇s disease
pathogenic gene
gene phenotypic
