对额颞叶痴呆不断变化的看法:综述

IF 2 4区 心理学 Q2 PSYCHOLOGY
Julie S. Snowden
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引用次数: 3

摘要

本文探讨了过去四十年来对额颞叶痴呆(FTD)的理解的演变。一个中心主题是对异质性的认识。最初被解释为一种行为障碍和执行障碍,现在已知FTD也与语言、概念知识和实践的改变有关。许多FTD患者的特征是缺乏神经系统体征,但也与运动神经元疾病(MND)、进行性核上性麻痹(PSP)和皮质基底退行性变(CBD)有关。FTD通常被定义为早发性痴呆,但大约四分之一的患者在65岁以后出现。潜在的病理蛋白是tau, TDP-43或更罕见的融合肉瘤(FUS)。在家族性FTD中发现了不同的基因突变。临床表型、病理底物和基因突变之间存在可预测的关系。例如,限定语义障碍预示着TDP-43病理,言语或肢体失用症tau病理。MND的共同发生预示TDP-43病理,PSP和CBD tau病理。FUS病理与非常年轻的发病、刻板的行为和尾状核萎缩有关。非流利性失语与颗粒前蛋白(GRN)突变、MND和精神病有关,以重复扩增C9orf72基因。尽管在研究结果上取得了惊人的全球共识,但仍存在一些争议问题,主要与FTD及其亚变体的分类有关。了解FTD的多样性对于有效诊断、管理和开发靶向治疗至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Changing perspectives on frontotemporal dementia: A review

This article examines the evolution in understanding of frontotemporal dementia (FTD) during the last four decades. A central theme is the recognition of heterogeneity. Originally construed as a disorder of behaviour and executive impairment, FTD is now known also to be associated with alterations in language, conceptual knowledge and praxis. An absence of neurological signs is the hallmark of many FTD patients, but there is also an established association with motor neurone disease (MND), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). FTD is commonly defined as an early onset dementia, yet about a quarter of patients present after the age of 65. The underlying pathological protein is tau, TDP-43 or more rarely fused-in-sarcoma (FUS). Distinct genetic mutations have been identified in familial FTD. There are predictable relationships between clinical phenotype, pathological substrate and genetic mutation. For example, a circumscribed semantic disorder predicts TDP-43 pathology, and speech or limb apraxia tau pathology. The co-occurrence of MND predicts TDP-43 pathology, and PSP and CBD tau pathology. FUS pathology is associated with very youthful onset, stereotyped behaviours and caudate atrophy. Non-fluent aphasia is linked to progranulin (GRN) mutations and MND and psychosis to repeat expansions in the C9orf72 gene. Despite striking worldwide consensus in findings there remain some issues of contention, largely related to the classification of FTD and its sub-variants. Understanding the diverse nature of FTD is crucial for effective diagnosis, management and the development of targeted therapies.

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来源期刊
Journal of Neuropsychology
Journal of Neuropsychology 医学-心理学
CiteScore
4.50
自引率
4.50%
发文量
34
审稿时长
>12 weeks
期刊介绍: The Journal of Neuropsychology publishes original contributions to scientific knowledge in neuropsychology including: • clinical and research studies with neurological, psychiatric and psychological patient populations in all age groups • behavioural or pharmacological treatment regimes • cognitive experimentation and neuroimaging • multidisciplinary approach embracing areas such as developmental psychology, neurology, psychiatry, physiology, endocrinology, pharmacology and imaging science The following types of paper are invited: • papers reporting original empirical investigations • theoretical papers; provided that these are sufficiently related to empirical data • review articles, which need not be exhaustive, but which should give an interpretation of the state of research in a given field and, where appropriate, identify its clinical implications • brief reports and comments • case reports • fast-track papers (included in the issue following acceptation) reaction and rebuttals (short reactions to publications in JNP followed by an invited rebuttal of the original authors) • special issues.
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