22q11.2缺失所致早发型帕金森病一例  

Early‑onset Parkinson′s disease caused by 22q11.2 deletion:a case report

作　　者：蔡国恩[1] 陈凤仙 何饶丽 陈枝挺[1] 黄天文[1] 张健[1] 陈晓春[1] 叶钦勇[1] Cai Guoen;Chen Fengxian;He Raoli;Chen Zhiting;Huang Tianwen;Zhang Jian;Chen Xiaochun;Ye Qinyong(Department of Neurology,Fujian Medical University Union Hospital,Fuzhou 350001,China)

机构地区：[1]福建医科大学附属协和医院神经内科,福州350001

出　　处：《中华神经科杂志》2021年第6期585-589,共5页Chinese Journal of Neurology

基　　金：国家自然科学基金(81870995);中央引导地方科技发展专项(2019L301)。

摘　　要：早发型帕金森病目前已经鉴定出多种致病基因,但22q11.2缺失相关的早发型帕金森病国内尚未报道。我院收治1例早发型帕金森病患者,通过基于全外显子测序的拷贝数变异检测确诊为22q11.2缺失相关的早发型帕金森病。文中就其临床特征进行报道,并从发病机制、诊断及治疗管理方面进行讨论。Many pathogenic genes have been identified in early‑onset Parkinson′s disease,but the early‑onset Parkinson′s disease with 22q11.2 deletion has not been reported in Chinese.A case of early‑onset Parkinson′s disease with 22q11.2 deletion was confirmed by whole‑exome sequencing‑based copy number variation detection in Fujian Medical University Union Hospital.This article reports its clinical characteristics and discusses its pathogenesis,diagnosis and treatment management.

关 键 词：帕金森病 染色体22q11.2缺失综合征 全外显子测序 基因拷贝数变异 

分 类 号：R742.5[医药卫生—神经病学与精神病学]