Ganguly Jacky, Jog Mandar
Movement Disorder Centre, London Health Sciences Centre, University of Western Ontario, London, ON, Canada.
Front Neurol. 2020 Nov 5;11:599384. doi: 10.3389/fneur.2020.599384. eCollection 2020.
The spectrum of tauopathy encompasses heterogenous group of neurodegenerative disorders characterized by neural or glial deposition of pathological protein tau. Clinically they can present as cognitive syndromes, movement disorders, motor neuron disease, or mixed. The heterogeneity in clinical presentation, genetic background, and underlying pathology make it difficult to classify and clinically approach tauopathy. In the literature, tauopathies are thus mostly highlighted from pathological perspective. From clinical standpoint, cognitive syndromes are often been focussed while reviewing tauopathies. However, the spectrum of tauopathy has also evolved significantly in the domain of movement disorders and has transgressed beyond the domain of primary tauopathies. Secondary tauopathies from neuroinflammation or autoimmune insults and some other "novel" tauopathies are increasingly being reported in the current literature, while some of them are geographically isolated. Because of the overlapping clinical phenotypes, it often becomes difficult for the clinician to diagnose them clinically and have to wait for the pathological confirmation by autopsy. However, each of these tauopathies has some clinical and radiological signatures those can help in clinical diagnosis and targeted genetic testing. In this review, we have exposed the heterogeneity of tauopathy from a movement disorder perspective and have provided a clinical approach to diagnose them ante mortem before confirmatory autopsy. Additionally, phenotypic variability of these disorders (chameleons) and the look-alikes (mimics) have been discussed with potential clinical pointers for each of them. The review provides a framework within which new and as yet undiscovered entities can be classified in the future.
tau蛋白病谱涵盖了一组异质性神经退行性疾病，其特征是病理性蛋白tau在神经或胶质细胞中沉积。临床上，它们可表现为认知综合征、运动障碍、运动神经元病或混合型。临床表现、遗传背景和潜在病理的异质性使得tau蛋白病难以分类和进行临床处理。因此，在文献中，tau蛋白病大多从病理学角度进行重点阐述。从临床角度看，在回顾tau蛋白病时，认知综合征常常受到关注。然而，tau蛋白病谱在运动障碍领域也有了显著演变，并且已经超越了原发性tau蛋白病的范畴。目前文献中越来越多地报道了神经炎症或自身免疫损伤引起的继发性tau蛋白病以及一些其他“新型”tau蛋白病，其中一些具有地域局限性。由于临床表型重叠，临床医生往往难以进行临床诊断，不得不等待尸检的病理证实。然而，每种tau蛋白病都有一些临床和影像学特征，有助于临床诊断和针对性的基因检测。在本综述中，我们从运动障碍角度揭示了tau蛋白病的异质性，并提供了一种在进行确诊性尸检前进行生前诊断的临床方法。此外，还讨论了这些疾病（“变色龙”）及其相似疾病（“模仿者”）的表型变异性，并为每种疾病提供了潜在临床提示。本综述提供了一个框架，未来新的和尚未发现的实体可在此框架内进行分类。
