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Genetic Diversity in Frontotemporal Dementia
Molecular Biology ( IF 1.2 ) Pub Date : 2020-02-25 , DOI: 10.1134/s0026893320010136
Yu. A. Shpilyukova , E. Yu. Fedotova , S. N. Illarioshkin

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.


中文翻译:

额颞痴呆的遗传多样性

摘要

额颞痴呆是一种进行性神经退行性疾病,具有高度的临床,遗传和病理形态学多样性。它是所有年龄段痴呆的第三大最常见病因,也是早发性痴呆的最常见病因(65岁以下)。尽管具有多因素性质,但仍有多达40%的患者有家族史,其中四分之一的病例可见常染色体显性遗传。在这篇综述中,我们描述了其突变可导致额颞痴呆发展,退化过程的可能致病机制的关键基因,并提供了有关不同遗传变异的疾病临床特征的信息。特别强调与肌萎缩性侧索硬化症相关的额颞痴呆表型。
更新日期:2020-02-25
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