家族性额颞叶痴呆合并帕金森综合征临床和影像学特征分析  

Clinical and neuroimaging features of frontotemporal dementia with parkinsonism linked to chromosome 17

作　　者：武力勇[1] 冯雪岩[1] 历含之 秦伟 董静[1] 卢岩[1] 刘佳[1] 贾建平[1] Wu Liyong Feng Xueyan Li Hanzhi Qin Wei Dong Jing Lu Yan Liu Jia Jia Jianping(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

出　　处：《中华神经科杂志》2017年第1期11-16,共6页Chinese Journal of Neurology

基　　金：国家自然科学基金资助项目（81470074）;北京市科学技术委员会临床特色课题（Z141107002514117）

摘　　要：目的：报道1个由微管相关tau蛋白（ MAPT）基因突变所致的17号染色体相关的额颞叶痴呆合并帕金森综合征（ FTDP－17）家系，并分析先证者的临床和神经影像学特征。方法收集家族性FTDP－17家系1个，对其先证者及另外1例患者进行病史询问、神经心理评估、体格检查、MRI检查、视频脑电图、脑葡萄糖代谢SPECT和多巴胺转运体PET检查、基因检查。结果该家系4代中共有15例患者，其中6例存活。首发症状为头晕及行动迟缓、僵直、面部表情减少，病程后期出现认知功能下降、言语重复及吞咽困难。基因检查显示17号染色体MAPT基因11号外显子c．1788T＞G点突变。2例患者头颅MRI早期正常，晚期出现额颞叶为主的脑萎缩。 SPECT检查结果提示颞叶、额叶、顶叶及基底节区葡萄糖代谢不均匀减低，11 C多巴胺转运体 PET 显示基底节区多巴胺转运体不均匀减低。结论我们报道1个以帕金森综合征为早期主要表现的 FTDP－17家系。脑葡萄糖代谢SPECT及脑多巴胺转运体PET有助于FTDP－17的诊断。Objective To explore the clinical and neuroimaging features of a frontotemporal dementia with parkinsonism linked to chromosome 17 （ FTDP-17 ） pedigree caused by mutation of microtubule-associated protein tau （ MAPT） gene.Methods The proband and one patient from a FTDP-17 pedigree were assessed through standardized clinical evaluation , neuropsychology assessment , video-electroencephalogrom ,MRI, genetic sequencing , as well as 18 F fludeoxyglucose （ FDG） SPECT for brain metabolism and 11 C 2β-carbomethoxy-3β-（ 4-fluoro ） tropane （ CFT ） PET for dopamine transporter （ DAT ） distribution, respectively.Results A FTDP pedigree with 15 patients （6 still alive） was recruited to this study.The proband and one affected patient were genotyped and confirmed as MAPT c .1788T〉G mutation. Parkinsonism was the first symptom for both two patients . Personality, speech changes and dementia accompanied with brain atrophy were developed at the later stage in one patient .The 18 F FDG SPECT studies illustrated asymmetric hypometabolism of the temporal , frontal lobes and basal ganglia in two patients . Regarding to the 11 C CFT PET, one affected patient showed asymmetric decreased uptake of tracer in basal ganglia regions.Conclusions FTDP-17 can display a confusingly broad clinical phenotype , with the parkinsonism as the first symptom . Brain glucose metabolism and DAT distribution could be potential biomarkers in early diagnosis of FTDP-17.

关 键 词：额颞叶痴呆 帕金森综合征 微管相关tau蛋白基因 葡萄糖代谢 多巴胺转运体 

分 类 号：R749.1[医药卫生—神经病学与精神病学] R742.5[医药卫生—临床医学]