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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。
The purpose of the family frontotemporal dementia with amyotrophic lateral sclerosis (FTD / ALS) syndrome is a rare neurodegenerative disease, this article reports a FTD / ALS family, and analysis of proband’s clinical and neuroimaging features. Methods One FTD / ALS pedigree was collected and its probands were investigated for history, neuropsychological assessment, physical examination, magnetic resonance imaging (MRI), electromyography (EMG), single photon computerized SPECT (SPECT) an examination. Results There were 9 patients in the third generation of the pedigree. The probands showed mainly unfavorable speech, unresponsiveness and atrophy of the right upper limb. Proximal head MRI showed frontotemporal temporal lobe brain atrophy, SPECT results suggest temporal lobe, frontal lobe and basal ganglia glucose metabolism is not uniformly reduced, EMG prompted a wide range of neurogenic damage. Conclusion The familial FTD / ALS pedigrees show the combination of FTD and ALS. Brain glucose metabolism SPECT and EMG contribute to the diagnosis of FTD / ALS.