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综述:额颞叶变性的临床、遗传和病理学方面的最新进展

Review: an update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations.

作者信息

Lashley Tammaryn, Rohrer Jonathan D, Mead Simon, Revesz Tamas

机构信息

Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

Dementia Research Centre, UCL Institute of Neurology, London, UK.

出版信息

Neuropathol Appl Neurobiol. 2015 Dec;41(7):858-81. doi: 10.1111/nan.12250. Epub 2015 Jul 6.

Abstract

The development of our understanding of frontotemporal dementia (FTD) has gathered pace over the last 10 years. After taking a back seat to Alzheimer's disease for many years FTD has emerged as a significant group of heterogeneous diseases often affecting people under the age of 65. FTD has also been brought into the spotlight as the major disease entities of the group have clinical, genetic and pathological links to motor neuron disease/amyotrophic lateral sclerosis, indicating that they form a disease spectrum. In this review, we overview how the pathological concept of frontotemporal lobar degeneration (FTLD) and the clinical concept of FTD evolved and show that FTLD, once thought of as a single disorder, represents a heterogeneous group of diseases with overlapping clinical symptoms, multiple causative genes and varying underlying pathology. We also provide a brief summary of the clinical manifestations, summarize the major genetic aspects and describe the main pathological features seen in the different subtypes of FTLD. We also summarize the correlations that exist between clinical presentations and pathological variants. An overview of the main pathogenic mechanisms is also provided.

摘要

在过去十年中,我们对额颞叶痴呆(FTD)的认识发展迅速。多年来一直排在阿尔茨海默病之后的FTD,已成为一组重要的异质性疾病,常影响65岁以下人群。FTD也备受关注,因为该组主要疾病实体在临床、遗传和病理方面与运动神经元病/肌萎缩侧索硬化症存在关联,这表明它们构成了一个疾病谱。在本综述中,我们概述了额颞叶变性(FTLD)的病理概念和FTD的临床概念是如何演变的,并表明FTLD曾被认为是一种单一疾病,实际上代表了一组具有重叠临床症状、多个致病基因和不同潜在病理的异质性疾病。我们还简要总结了临床表现,概述了主要的遗传学方面,并描述了FTLD不同亚型中所见的主要病理特征。我们还总结了临床表现与病理变异之间存在的相关性。此外,还提供了主要致病机制的概述。

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