1例PRKN基因突变导致的青少年型帕金森病的临床分析  

Clinical analysis of a case of juvenile Parkinson′s disease induced by PRKN gene mutation

作　　者：何佳娓 殷梦媚 李晓波[2] HE Jiawei;YIN Mengmei;LI Xiaobo(Clinical Medical College of Yangzhou University,Yangzhou,Jiangsu,225001;Brain Center,Subei People′s Hospital in Jiangsu Province,Yangzhou,Jiangsu,225001)

机构地区：[1]扬州大学医学院,江苏扬州225001 [2]江苏省苏北人民医院脑科中心,江苏扬州225001

出　　处：《实用临床医药杂志》2022年第6期105-108,共4页Journal of Clinical Medicine in Practice

基　　金：国家自然科学基金项目(81371377);2016年度江苏省“六大人才高峰”高层次人才C类资助项目(2016-WSN-274);江苏省第五期“333工程”科研资助立项项目(BRA2017168);江苏省扬州市科教强卫专项经费资助项目(ZDXK20185)。

摘　　要：帕金森病是一种神经退行性疾病,主要表现为静止性震颤、行动迟缓、肌肉强直、姿势异常,其发病率仅次于阿尔茨海默病,好发于65岁以上人群。帕金森病可在环境和遗传基因的影响下发病,约5%的患者为基因突变发病。目前,国内有关常染色体隐性遗传性青少年型帕金森病的病例报告较少。本研究报告1例由PRKN基因突变导致的常染色体隐性遗传性青少年型帕金森病2型的病例,并分析其临床表现、基因特点及诊治方案。Parkinson′s disease is a neurodegenerative disease mainly manifested as resting tremor,slow action,muscle rigidity and abnormal posture,its incidence rate is second only to Alzheimer's disease,and it is prevalent in people over 65 years old.Parkinson′s disease can occur under the influence of environment and genetic genes,and about 5%of patients are caused by gene mutation.At present,there are few reports about cases of autosomal recessive juvenile Parkinson′s disease in China.This study reported a case of type 2 autosomal recessive juvenile Parkinson′s disease induced by PRKN gene mutation,and analyzed its clinical manifestation,gene characteristics and treatment plan.

关 键 词：帕金森病 基因突变 染色体 遗传 肌张力障碍 左旋多巴 

分 类 号：R246.6[医药卫生—针灸推拿学] Q343.1[医药卫生—中医临床基础]