PLA2G6基因突变致青年帕金森病的临床特征(附1例报告)  

Clinical features of young onset Parkinson’s disease caused by PLA2G6 gene mutation (report of one case)

作　　者：范成成 蔡卫卫 孙虹[1] 梅珊珊[1] 王慧[1] 许保磊[1] 马敬红[1] 许二赫[1] 陈彪[1] FAN Cheng-cheng;CAI Wei-wei;SUN Hong(Department of Neurology,Xuanwu Hospital Capital Medical University,Beijing 100053,China)

机构地区：[1]首都医科大学宣武医院神经内科,北京100053 [2]河南省洛阳市中心医院神经内科

出　　处：《临床神经病学杂志》2021年第5期338-342,共5页Journal of Clinical Neurology

基　　金：国家重点研发计划资助项目(2017YFC1310200)。

摘　　要：目的本文报道了一个可能致病的PLA2G6基因突变的新位点,并对PLA2G6基因突变所致青年帕金森病患者的临床特征进行探讨。方法回顾性分析1例PLA2G6基因突变相关帕金森病患者的临床资料并做相关文献复习。结果患者青年女性,隐匿性起病,病程两年余。主要临床表现为右下肢震颤、右侧肢体肌张力障碍及运动迟缓,病情逐渐进展。应用小剂量左旋多巴效果好,但维持时间较短。基因检测发现PLA2G6基因复合杂合突变:c.991G>T(p.D331Y)、c.1630A>G(p.M544V),后者可能是一个新的突变位点。结论 PLA2G6突变所致帕金森病临床罕见,临床表现多样,临床容易误诊,基因检查为鉴别要点。Objective The study reports a novel possible pathogenic mutation site of PLA2G6 gene, and investigates the clinical features of PLA2G6-related parkinsonism. Methods Clinical data of a patient with PLA2G6-related parkinsonism were retrospectively analyzed, and relevant literatures were reviewed. Results The patient was a young female with an insidious onset, and the course of disease was more than 2 years. The main clinical manifestations were tremor of the right lower limb, dystonia of the right limb, and bradykinesia on the right side. Small dose of Levodopa was effective after treatment, but it was short lasting. Genetic testing found compound heterozygous mutations in PLA2G6 gene: c.991 G>T(p.D331Y),c.1630 A>G(p.M544V), the latter may be a new mutation site. Conclusions PLA2G6-related parkinsonism is rare and heterogeneous, which is likely to be misdiagnosed in clinical practice. The genetic testing is essential for differential diagnosis.

关 键 词：PLA2G6基因 青年 帕金森病 肌张力障碍 

分 类 号：R742.5[医药卫生—神经病学与精神病学]