摘要
GBA1基因突变是帕金森病(Parkinson’s disease,PD)发生的重要遗传危险因素。本文报道1例43岁男性PD患者,全外显子组测序显示GBA1基因罕见Thr408Met杂合突变,诊断为GBA1基因突变PD。患者的运动症状以运动迟缓和肌强直为主,无明显认知功能下降,接受小剂量左旋多巴联合多巴胺受体激动剂治疗后症状明显改善。
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.
作者
赵轶
李俊雯
鞠春莲
邱炜斌
左博
杨志刚
李焰生
ZHAO Yi;LI Junwen;JU Chunlian;QIU Weibin;ZUO Bo;YANG Zhigang;LI Yansheng(Department of Neurology,Shanghai Xuhui Central Hospital,Shanghai 200237,China;Department of Neurosurgery,Zhongshan Hospital,Fudan University,Shanghai 200032,China;Department of Neurology,Renji Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China)
出处
《中国临床医学》
2025年第3期524-528,共5页
Chinese Journal of Clinical Medicine
基金
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)。
关键词
帕金森病
GBA1基因突变
发病机制
诊断
治疗
预后
Parkinson’s disease
GBA1 gene mutation
pathogenesis
diagnosis
treatment
prognosis
