以非运动症状起病的PLA2G6基因突变所致青年型帕金森病一例并文献复习

A case of juvenile Parkinson's disease caused by PLA2G6 gene mutation with non-motor symptoms and literature review

目的探讨以非运动症状(non-motor symptoms,NMS)起病的PLA2G6基因突变所致青年型帕金森病(young-onset parkinson disease,YOPD)的临床、影像学和基因检测特点。方法选取2019年12月解放军总医院第八医学中心神经内科收治的1例以NMS起病的PLA2G6基因突变所致YOPD患者,回顾分析其临床、影像学、基因检测和诊治过程等资料,并复习相关文献。结果本例患者男性,29岁,隐匿性起病,主要临床表现为情绪低落、反应迟钝伴行动迟缓,病情逐渐进展。头颅MRI示全脑萎缩征象。全外显基因检测发现PLA2G6基因纯合突变:c2222G>A(p.R741Q)。小剂量多巴丝肼治疗有效。既往文献报道的21例患者中,PLA2G6基因突变的YOPD发病前可出现精神症状、认知功能障碍、便秘等非运动症状,病情进展出现运动迟缓、震颤、肌强直,部分患者头颅MRI提示脑萎缩,伴或不伴基底节区铁沉积。结论精神症状和认知功能下降是YOPD最常见的NMS,NMS可能在YOPD诊断前和病程中出现。在运动障碍出现之前,年轻人的抑郁、焦虑或人格改变等精神症状易被误诊为精神心理疾病,PLA2G6基因检测可以确诊此病。

Objective To explore the clinical,imaging and gene detection characteristics of young-onset parkinson disease(YOPD)caused by PLA2G6 gene mutation with non-motor symptoms(NMS).Methods One YOPD patient with NMS caused by PLA2G6 gene mutation was selected from the Neurology Department of the Eighth Medical Center of the PLA General Hospital in December 2019.The data of clinical,imaging,gene detection,diagnosis and treatment process were analyzed retrospectively,and the related literature was reviewed.Results The patient,a 29-year-old male,had a concealed onset.The main clinical manifestations were depression,slow response and action,and the condition was gradually progressed.Brain MRI showed signs of global brain atrophy.The homozygous mutation of PLA2G6 gene was found by allexplicit gene detection:c2222G>A(p.R741Q).Low-dose dobutamine was effective.A total of 21 cases reported in domestic and foreign literatures were reviewed,and the YOPD patients caused by PLA2G6 gene mutation might have NMS such as mental symptoms,cognitive dysfunction,constipation,etc.before onset.The disease progresses with bradykinesia,tremor and myotonia,and some patients had brain atrophy with or without iron deposition in basal ganglia.Conclusions Mental symptoms and cognitive decline are the most common NMS in YOPD,which may occur before diagnosis or during the disease process.Before dyskinesia appears,mental symptoms such as depression,anxiety,or personality changes in young people are easily misdiagnosed as mental and psychological disorders.PLA2G6 gene testing can be used for the diagnosis of the disease.