GBA1基因变异与帕金森病研究进展  

Research progress of GBA1 variation and Parkinson′s disease

作　　者：曾真 马敬红[2] 陈彪[2] Zeng Zhen;Ma Jinghong;Chan Piu(Department of Neurology,Beijing Luhe Hospital,Capital Medical University,Beijing 101199,China;Department of Neurology,Xuanwu Hospital,Capital Medical University,Beijing 100053,China)

机构地区：[1]首都医科大学附属北京潞河医院神经内科,北京101199 [2]首都医科大学宣武医院神经内科,北京100053

出　　处：《中华神经科杂志》2023年第5期562-566,共5页Chinese Journal of Neurology

基　　金：国家重点研发计划(2021YFC2501200)。

摘　　要：GBA1基因是帕金森病常见的风险基因之一,编码葡萄糖脑苷脂酶。尽管携带GBA1杂合变异的帕金森病(GBA1-PD)患者与原发性帕金森病患者在临床上难以区分,但GBA1-PD倾向于进展更快,病情更重,更易合并认知损害和其他非运动症状。GBA1杂合变异携带者增加患帕金森病风险的病理机制可能与自噬-溶酶体功能紊乱、线粒体功能障碍等相关。针对GBA1的靶向治疗有望成为帕金森病精准治疗的新方向。文中将对GBA1-PD的流行病学、临床特征、GBA1变异可能的致病机制以及针对GBA1-PD的治疗策略进行阐述。GBA1 is one of the common risk genes of Parkinson′s disease(PD),which encodes glucocerebrosidase.It is difficult to distinguish PD patients with heterozygous variants of GBA1(GBA1-PD)from idiopathic Parkinson′s disease patients,but GBA1-PD tends to progress faster,be more severe,and be more likely to be associated with cognitive impairment and other non-motor symptoms.The pathological mechanism of the increased risk of PD in GBA1 heterozygous variant carriers may be related to autophagy-lysosome dysfunction and mitochondrial dysfunction.Targeted therapy for GBA1 is expected to become a new direction of precision therapy for PD.In this article,the epidemiology and clinical features of GBA1-PD,the possible pathogenesis of GBA1 variation,and the therapeutic strategies for GBA1-PD were elaborated.

关 键 词：帕金森病 GBA1基因 葡萄糖脑苷脂酶 Α-突触核蛋白 

分 类 号：R742.5[医药卫生—神经病学与精神病学]