早发帕金森病临床特征、多巴转运体PET显像及基因突变分析  

The clinical,DAT PET scan and genetic characteristics of early-onset Parkinson's disease

作　　者：毛薇[1] 许二赫[1] 张慧[1] 陈彪[1] MAO Wei XU Erhe ZHANG Hui CHEN Biao.(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,100053

出　　处：《中国神经免疫学和神经病学杂志》2017年第1期2-6,共5页Chinese Journal of Neuroimmunology and Neurology

摘　　要：目的探讨早发帕金森病的临床特征、多巴胺功能改变和基因突变。方法选取作者医院收治的10例早发帕金森病患者(男、女各5例),发病年龄平均(31.4±8.0)岁,平均病程(3.0±0.8)年,无家族史,对所有患者的临床资料、多巴转运体PET显像及基因检测结果进行回顾性分析。结果 10例患者均有受累肢体运动迟缓及肌张力增高,6例出现静止性震颤,5例有足部肌张力障碍,4例腱反射活跃,2例腱反射亢进,4例存在日间症状波动。3例伴抑郁。9例患者对多巴丝肼反应良好。8例进行脑多巴胺转运体PET显像(11 C-CFT DATPET)检查,1例起病对侧壳核后部DAT降低,7例显示双侧壳核后部DAT降低,其中4例起病对侧DAT降低更为明显。1例parkin基因3、4外显子缺失,PINK1基因外显子1还发生重复突变。1例parkin基因外显子4出现了纯合突变。3例parkin基因外显子3或4发生杂合突变。结论早发帕金森病具有独特的临床特征,纹状体多巴胺功能发生改变,parkin基因和PINK1基因与其发病相关。Objective To investigate the clinical characteristics,changes of dopamine function and genetic mutation in patients with early-onset Parkinson＇s disease（EOPD）,defined as parkinsonism starting before age 50 years.Methods Clinical data,11 C-CFT DAT PET scan and genetic mutation of 10 sporadic EOPD patients were analyzed retrospectively.The average age of onset was（31.4±8.0）years old.The average disease duration was（3.0±0.8）years.Results All of the patients had rigidity and bradykinesia,6patients with resting tremor,5 patients with foot dystonia,4 patients with hyperactive tendon reflex,4 patients with diurnal fluctuation of the symptoms,3patients with depression,and remarkable effect of levodopa were found in 9patients.11 C-CFT DAT PET imaging was performed in 8patients.There was a significant reduction of[11C]CFT uptake in posterior of putamen.The reductions occurred on both the contralateral and ipsilateral side in 7patients,localized predominantly on the contralateral in 4patients.One patient showed a significant decrease in the contralateral posterior of putamen.In case 3,the deletion mutation was found in exon 3and exon 4of parkin gene,exon 4of PINK1 gene presented a repeat mutation.Homozygous mutations occurred in exon 4of parkin gene in case 8.Heterozygous mutations occurred in exon 3or 4of parkin gene in 3patients.Conclusions EOPD has some unique clinical features and changes of dopamine function in striatum.Mutations in parkin gene and PINK1 gene are related to the pathogenesis of EOPD.

关 键 词：帕金森病 多巴转运体PET显像 PARKIN基因 PINK1基因 

分 类 号：R742.5[医药卫生—神经病学与精神病学]