中国临床医学2025，Vol.32Issue(3)：524-528,5.DOI:10.12025/j.issn.1008-6358.2025.20241363
GBA1基因突变帕金森病1例报告
GBA1 Thr408Met mutation in a patient with Parkinson's disease
摘要
Abstract
GBA1 gene mutation is an important genetic risk factor for Parkinson's disease(PD).This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing,leading to a diagnosis of GBA1-associated PD.The patient's motor symptoms were primarily characterized by bradykinesia and rigidity,without significant cognitive decline.Treatment with low-dose levodopa combined with a dopamine agonist resulted in significant symptomatic improvement.关键词
帕金森病/GBA1基因突变/发病机制/诊断/治疗/预后Key words
Parkinson's disease/GBA1 gene mutation/pathogenesis/diagnosis/treatment/prognosis分类
医药卫生引用本文复制引用
赵轶,李俊雯,鞠春莲,邱炜斌,左博,杨志刚,李焰生..GBA1基因突变帕金森病1例报告[J].中国临床医学,2025,32(3):524-528,5.基金项目
上海市卫生健康委员会项目(202240126),上海市徐汇区中心医院项目(XZX202305).Supported by Project of Shanghai Municipal Health Commission(202240126)and Project of Shanghai Xuhui Central Hospital(XZX202305). （202240126）
