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[额颞叶痴呆的遗传多样性]

[Genetic Diversity in Frontotemporal Dementia].

作者信息

Shpilyukova Yu A, Fedotova E Yu, Illarioshkin S N

机构信息

Research Center of Neurology, Moscow, 125367 Russia.

出版信息

Mol Biol (Mosk). 2020 Jan-Feb;54(1):17-28. doi: 10.31857/S0026898420010139.

Abstract

Frontotemporal dementia is a progressive neurodegenerative disorder with high clinical, genetic, and pathomorphological diversity It is the third most common cause of dementia in all ages and the most common cause of early onset dementia (below 65). Despite its multifactorial nature, up to 40% of patients have a family history where the autosomal dominant inheritance type is seen in a quarter of cases. In this review, we describe key genes whose mutations can result in the development of frontotemporal dementia, the possible pathogenic mechanisms of the degenerative process, and provide information on the clinical features of the disease for different genetic variants. Special emphasis is placed on the frontotemporal dementia phenotype that is associated with amyotrophic lateral sclerosis.

摘要

额颞叶痴呆是一种具有高度临床、遗传和病理形态学多样性的进行性神经退行性疾病。它是各年龄段痴呆的第三大常见病因,也是早发性痴呆(65岁以下)最常见的病因。尽管其具有多因素性质,但高达40%的患者有家族病史,其中四分之一的病例可见常染色体显性遗传类型。在本综述中,我们描述了其突变可导致额颞叶痴呆发生的关键基因、退行性过程可能的致病机制,并提供了不同基因变异的该疾病临床特征信息。特别强调了与肌萎缩侧索硬化相关的额颞叶痴呆表型。

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