Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, National Center for Neurological Disorders, 12th Wulumuqi Zhong Road, Shanghai, 200040, China.
Mol Neurodegener. 2022 Apr 7;17(1):28. doi: 10.1186/s13024-022-00533-z.
Tauopathies are a class of neurodegenerative disorders characterized by neuronal and/or glial tau-positive inclusions.
Clinically, tauopathies can present with a range of phenotypes that include cognitive/behavioral-disorders, movement disorders, language disorders and non-specific amnestic symptoms in advanced age. Pathologically, tauopathies can be classified based on the predominant tau isoforms that are present in the inclusion bodies (i.e., 3R, 4R or equal 3R:4R ratio). Imaging, cerebrospinal fluid (CSF) and blood-based tau biomarkers have the potential to be used as a routine diagnostic strategy and in the evaluation of patients with tauopathies. As tauopathies are strongly linked neuropathologically and genetically to tau protein abnormalities, there is a growing interest in pursuing of tau-directed therapeutics for the disorders. Here we synthesize emerging lessons on tauopathies from clinical, pathological, genetic, and experimental studies toward a unified concept of these disorders that may accelerate the therapeutics.
Since tauopathies are still untreatable diseases, efforts have been made to depict clinical and pathological characteristics, identify biomarkers, elucidate underlying pathogenesis to achieve early diagnosis and develop disease-modifying therapies.
Tau 病是一类以神经元和/或神经胶质 Tau 阳性包涵体为特征的神经退行性疾病。
临床上，Tau 病可表现为一系列表型，包括认知/行为障碍、运动障碍、语言障碍和高龄时的非特异性遗忘症状。从病理学角度来看，Tau 病可以根据包涵体中存在的主要 Tau 同工型（即 3R、4R 或相等的 3R:4R 比例）进行分类。成像、脑脊液 (CSF) 和基于血液的 Tau 生物标志物有可能被用作常规诊断策略，并用于评估 Tau 病患者。由于 Tau 病在神经病理学和遗传学上与 Tau 蛋白异常密切相关，因此人们越来越关注针对这些疾病的 Tau 靶向治疗。在这里，我们综合了临床、病理、遗传和实验研究中关于 Tau 病的新发现，提出了一个统一的概念，这可能会加速治疗方法的发展。
由于 Tau 病仍然是无法治愈的疾病，因此人们努力描述其临床和病理特征，识别生物标志物，阐明潜在的发病机制，以实现早期诊断和开发疾病修饰疗法。
