[额颞叶痴呆的临床、病理及基因相关性研究]

[The Clinical, Pathological, and Genetic Correlation in Frontotemporal Lobar Degeneration].

作者信息

Watanabe Ryohei, Arai Tetsuaki

机构信息

Department of Psychiatry, University of Tsukuba.

出版信息

Brain Nerve. 2020 Jun;72(6):575-583. doi: 10.11477/mf.1416201568.

DOI:10.11477/mf.1416201568

PMID:32507756

Abstract

Frontotemporal lobar degeneration (FTLD) presents diverse clinical symptoms, including psychiatric, behavioral, and language symptoms. Pathologically, it is a collective term of heterogeneous neurodegenerative disorders characterized by deposits of aberrant proteins, including tau, TAR DNA-binding protein of 43kDa (TDP-43), and fused in sarcoma (FUS), predominately in frontotemporal lobes. Recent genetic research has identified several causal and susceptibility genes of FTLD. Moreover, there is an emerging correlation between the clinical-pathological phenotypes and genetic factors. Such knowledge would contribute to further clarification of the pathogenesis of FTLD and the development of novel therapeutic interventions.

摘要

额颞叶变性（FTLD）呈现出多样的临床症状，包括精神、行为和语言症状。在病理上，它是一组异质性神经退行性疾病的统称，其特征是异常蛋白质沉积，包括tau蛋白、43kDa的TAR DNA结合蛋白（TDP-43）和肉瘤融合蛋白（FUS），主要沉积在额颞叶。最近的遗传学研究已经确定了FTLD的几个致病基因和易感基因。此外，临床病理表型与遗传因素之间的相关性也日益显现。这些知识将有助于进一步阐明FTLD的发病机制，并推动新型治疗干预措施的开发。