家族性额颞叶痴呆合并肌萎缩侧索硬化综合征一个家系报道  

Clinical and neuroimaging features of familial frontotemporal dementia with amyotrophic lateral sclerosis(FTD/ALS)

作　　者：武力勇[1] 冯雪岩[1] 李洁莹[1] 王欠欠[1] 刘佳[1] 秦伟 王芬[1] 周爱红[1] 贾建平[1] WU Li-yong;FENG Xue-yan;LI Jie-ying;WANG Qian-Qian;LIU Jia;QIN Wei;Wang FEN;ZHOU Ai-hong;JIA Jian-ping(Department of Neurology ,the Xuanwu Hospital of 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：《脑与神经疾病杂志》2017年第3期175-178,共4页Journal of Brain and Nervous Diseases

基　　金：国家自然科学基金(81470074);北京市科学技术委员会临床特色课题(2141107002514117);北京市卫生系统高层次卫生技术人才培养项目(学术骨干2014-3-051)

摘　　要：目的家族性额颞叶痴呆合并肌萎缩侧索硬化(FTD/ALS)综合征是罕见一种神经变性病,本文报道1个FTD/ALS家系,并分析先证者的临床和神经影像学特征。方法收集FTD/ALS家系1个,对其先证者进行病史询问、神经心理评估、体格检查、磁共振(MRI)检查、肌电图(EMG)、单光子电子计算机扫描(SPECT)检查和基因检查。结果该家系3代中共有9位患者,先证者主要表现为言语不利、反应迟钝、右上肢萎缩无力。先证者头颅MRI显示额颞叶为主的脑萎缩,SPECT结果提示颞叶、额叶及基底核区葡萄糖代谢不均匀减低,EMG提示广泛神经源性损害。结论家族性FTD/ALS家系表现为FTD和ALS的组合,脑葡萄糖代谢SPECT及EMG有助于FTD/ALS诊断。Objective Familial frontotemporal dementia with amyotrophic lateral sclerosis(FTD/ALS)is arare inherited neurodegenerative disorder.We aim to explore the clinical and neuroimaging features of a familial FTD/ALS pedigree.Method The proband from a familial FTD/ALS pedigree was assessed through standardized clinicalevaluation,neuropsychology assessment,EMG,MRI,as well as brain metabolism by[18F]fludeoxyglucose SPECT,respectively.Results A FTD/ALS pedigree with9patients was recruited to this study.In our family,the probanddeveloped features of speech changes,decline in memory and cognitive status,as well as weakness and atrophy of rightupper limb.On MRI,there was a generalized cerebral atrophy and moderate volume loss,especially in the bilateralfrontal and temporal lobes.The[18F]FDG SPECT studies illustrated hypometabolism of the bilateral temporal,frontal lobes and basal ganglia.EMG showed extensive neurogenic pathology.Conclusion FTD/ALS can display anoverlap of clinical phenotype of FTD and ALS.Brain metabolism SPECT and EMG could be potential biomarkers inearly diagnosis of FTD/ALS.

关 键 词：额颞叶痴呆合并肌萎缩侧索硬化综合征 单光子电子计算机扫描 脑葡萄糖代谢 肌电图 

分 类 号：R744.8[医药卫生—神经病学与精神病学]