[Neuropathologic Subtypes of Frontotemporal Lobar Degeneration].
[Neuropathologic Subtypes of Frontotemporal Lobar Degeneration].
复制标题
[额颞叶变性的神经病理亚型]。
DOI：
--
复制
发表时间：
2018
期刊：
影响因子：
--
通讯作者：
A. Kakita
中科院分区：
文献类型：
--
作者：
M. Tada;A. Kakita
额颞叶变性(FTLD)是一种包含多种组织病理学特征和遗传背景的异质性疾病。在过去的二十年里，人们发现了致病基因并鉴定了相关蛋白质。目前的组织病理学分类是基于脑内蛋白质沉积的主要类型，大多数FTLD病例可分为三种病理亚型：FTLD-tau、FTLD-TDP和FTLD-FUS。根据神经元和神经胶质包涵体的形态以及病变的分布情况，对每个亚组进行进一步的细分。受影响的患者，包括一些来自相同亚组的患者，在他们的临床表现上表现出相当大的异质性，这表明这些亚组代表了各种明确的临床症状，包括额颞叶痴呆(行为变异型额颞叶痴呆、进行性非流利性失语症和语义性痴呆)和运动障碍(肌萎缩侧索硬化症、皮质基底综合征和核上性瘫痪综合征)的变体。另一方面，MAPT突变的患者通常表现为FTLD-tau表型，而PRO、C9orf72、VCP或TARDBP的患者通常表现为FTLD-TDP表型。在这篇综述中，我们描述了FTLD主要亚型的组织病理学特征，并总结了患者的临床表现和遗传学特征。
Frontotemporal lobar degeneration (FTLD) is a heterogeneous disease entity encompassing a wide variety of histopathological features and genetic backgrounds. The last two decades have seen the discovery of causative genes and the identification of relevant proteins. The current histopathological classification is based on the major types of protein deposition in the brain, and most FTLD cases can be placed into one of three pathological subgroups: FTLD-tau, FTLD-TDP, and FTLD-FUS. Further sub-classification within each subgroup is based on the morphology of neuronal and glial inclusions and lesion distribution. Affected patients, including some from the same subgroups, show considerable heterogeneity in their clinical presentations, suggesting that the subgroups represent a variety of well-defined clinical syndromes, including variants of frontotemporal dementia (behavioral variant frontotemporal dementia, progressive non-fluent aphasia, and semantic dementia) and motor disorders (amyotrophic lateral sclerosis, corticobasal syndrome, and supranuclear palsy syndrome). On the other hand, patients with MAPT mutations always show the FTLD-tau phenotype, whereas patients with progranulin, C9orf72, VCP or TARDBP usually present the FTLD-TDP phenotype. In this review, we describe the histopathologic features of the main FTLD subtypes and summarize the clinical presentations and genetic characteristics of affected patients.