微管相关蛋白tau基因突变相关额颞叶痴呆临床研究进展  

Progress in clinical research on frontotemporal dementia related to mutations in the microtubule-associated protein tau gene

作　　者：李航[1] 李延峰[1] Li Hang;Li Yanfeng(Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院神经科,北京100730

出　　处：《中华老年医学杂志》2024年第7期930-934,共5页Chinese Journal of Geriatrics

摘　　要：额颞叶痴呆(FTD)是仅次于阿尔茨海默病的第二大早发型痴呆。30%~50%的FTD患者与遗传相关。微管相关蛋白tau(MAPT)基因突变是一种常见的常染色体显性基因突变,是遗传性额颞叶痴呆的第三大常见原因。本文就MAPT基因的结构、编码蛋白、致病机制、病理特点、MAPT基因突变所致FTD的临床表型,影像特点及治疗作出综述。Frontotemporal dementia(FTD)is the second most common early-onset dementia after Alzheimer's disease.About 30%to 50%of FTD cases are related to genetic factors.Mutations in the microtubule-associated protein tau(MAPT)gene are common autosomal dominant gene mutations and are the third most common cause of inherited frontotemporal dementia.In this paper,we will review the structure,encoded protein,pathogenesis and pathologic features of the MAPT gene and the clinical phenotype,imaging features and treatment of FTD caused by MAPT gene mutations.

关 键 词：痴呆 微管相关蛋白质类 额颞叶痴呆 基因突变 

分 类 号：R749.1[医药卫生—神经病学与精神病学]