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
李航 1李延峰1
作者信息
- 1. 中国医学科学院北京协和医院神经科,北京 100730
- 折叠
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.
Abstract
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Key words
Dementia/Microtubule-associated proteins/Frontotemporal dementia/Gene mutation引用本文复制引用
出版年
2024
NETL
NSTL
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