Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Piazzale Brescia, 20, 20149, Milan, Italy.
Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, Milan, Italy.
J Neural Transm (Vienna). 2022 Feb;129(2):239-259. doi: 10.1007/s00702-022-02471-y. Epub 2022 Feb 17.
Alzheimer's disease (AD), the most common age-dependent neurodegenerative disorder, is characterized neuropathologically by extracellular Aβ plaques and intracellular tau neurofibrillary tangles. While in AD tau pathology probably follows early alterations in Aβ metabolism, it develops independently in the so-called primary tauopathies, the main form being frontotemporal lobar degeneration with tau pathology. Tau pathology in AD brain is reflected in the cerebrospinal fluid (CSF) by elevated levels of the two AD tau biomarkers total and phosphorylated tau, which are now used for routine diagnostic purposes. On the contrary, no established neurochemical biomarkers exist for tau pathology in primary tauopathies. Thanks to recent technological advances, total and phosphorylated tau can now be quantified also on peripheral blood, and accumulating evidence shows that measurement of plasma phosphorylated tau species (P-tau181, P-tau217, and P-tau231) has high performances in discriminating AD patients from cognitively unimpaired subjects but also from patients with other dementias. Moreover, plasma P-tau levels are associated with tracer uptake on tau- and amyloid-PET as well as with brain atrophy, cognitive measures and longitudinal changes of these parameters. These features, together with the low invasiveness, scalability, and ease of longitudinal sampling, which differentiate plasma P-tau species from their CSF counterparts, make these proteins promising peripheral biomarkers for AD in both research and clinical setting. This review discusses the recent developments in the field of plasma tau proteins as diagnostic, pathophysiological and prognostic biomarkers of Alzheimer's disease; additional findings from the fields of genetic forms of AD and of non-AD proteinopathies are also summarized.
阿尔茨海默病(AD)是最常见的年龄相关性神经退行性疾病,其神经病理学特征为细胞外 Aβ 斑块和细胞内 tau 神经纤维缠结。虽然在 AD 中,tau 病理学可能继发于 Aβ 代谢的早期改变,但在所谓的原发性 tau 病中,tau 病理学会独立发展,主要形式是额颞叶痴呆伴 tau 病理学。AD 脑中的 tau 病理学反映在脑脊液(CSF)中 AD tau 生物标志物总 tau 和磷酸化 tau 的水平升高,目前这些标志物已用于常规诊断目的。相反,原发性 tau 病中没有建立 tau 病理学的既定神经化学标志物。由于最近技术的进步,总 tau 和磷酸化 tau 现在也可以在外周血中定量,并且越来越多的证据表明,测量血浆磷酸化 tau 种类(P-tau181、P-tau217 和 P-tau231)在区分 AD 患者与认知正常的受试者以及与其他痴呆患者方面具有很高的性能。此外,血浆 P-tau 水平与 tau 和淀粉样蛋白-PET 示踪剂摄取以及与脑萎缩、认知测量和这些参数的纵向变化相关。这些特征,加上低侵入性、可扩展性和便于纵向采样,使血浆 P-tau 种类与其 CSF 对应物区分开来,使这些蛋白成为 AD 研究和临床环境中具有前景的外周生物标志物。本文综述了血浆 tau 蛋白作为 AD 诊断、病理生理和预后生物标志物的最新研究进展;还总结了 AD 遗传形式和非 AD 蛋白病领域的其他发现。