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

VernacularTitle:22q11.2缺失所致早发型帕金森病一例
Author: Guoen CAI ; Fengxian CHEN ; Raoli HE ; Zhiting CHEN ; Tianwen HUANG ; Jian ZHANG ; Xiaochun CHEN ; Qinyong YE
From: Chinese Journal of Neurology 2021;54(6):585-589
CountryChina
Language:Chinese
Abstract: 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.