【摘要】 目的:分析1例由微管相关tau蛋白(MAPT)基因突变所致行为变异型额颞叶痴呆(bvFTD)患者的临床、神经心理及影像学特征并进行文献复习。方法:收集bvFTD患者1例,进行询问病史、体格检查和神经心理评估,并行常规化验检、影像学及基因检查,并复习相关文献。结果:该例患者表现为突出的行为异常、人格改变及执行功能下降,症状进行性加重,家族中数人有类似临床症状。患者头颅MRI提示双侧额叶、颞叶前部萎缩,SPECT提示相应区域灌注减低。基因检查提示MAPT基因c.1920+16C>T杂合突变。文献报道bvFTD以人格、社会行为和认知功能进行性恶化为主要特征,是FTLD中遗传性最强的亚型,MAPT基因是其最常见的致病基因之一。结论:本例bvFTD患者存在MAPT基因c.1920+16C>T剪切突变,从而导致4R tau蛋白表达增加引发神经变性。对于临床诊断bvFTD的患者应完善基因学检测。更多还原

【Abstract】 Objective:To explore the clinical,neuropsychological and radiological features of a Chinese patient with behavioral variant of frontotemporal dementia(bvFTD)due to microtubule-associated protein tau(MAPT)gene mutation.Methods:The neuropsychological,radiological,laboratory information and genetic findings were summarized.The related literatures were also reviewed.Results:The patient presented with prominent personality changes,inappropriate behavior and executive deficits.The situation got worse progressively.Several affected members with a homogeneous phenotype were found in the family.Brain MRI showed atrophy involving the bilateral frontal and anterior temporal lobes,with hypoperfusion in the corresponding areas in single photon emission computerized tomography(SPECT).A heterozygous mutation of c.1920+16 C>T of MAPT gene has been identified.It’s reported that bvFTD was characterized by the progressive deterioration of personality, social behavior and cognitive function, with a high incidence of familial transmission. MAPT gene was the one of the most common mutations that lead to FTLD.Conclusion:The cause of this patient’s bvFTD was a splicing mutation of c.1920+16 C>T of MAPT gene, which resulted in abnormal gene splicing that lead to an overproduction of 4 R tau protein. Genetic test should be performed for patients that clinically diagnosed as bvFTD.更多还原