Ashton Nicholas J, Hye Abdul, Rajkumar Anto P, Leuzy Antoine, Snowden Stuart, Suárez-Calvet Marc, Karikari Thomas K, Schöll Michael, La Joie Renaud, Rabinovici Gil D, Höglund Kina, Ballard Clive, Hortobágyi Tibor, Svenningsson Per, Blennow Kaj, Zetterberg Henrik, Aarsland Dag
Department of Psychiatry and Neurochemistry, Institute of Neuroscience & Physiology, The Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
Wallenberg Centre for Molecular and Translational Medicine, University of Gothenburg, Gothenburg, Sweden.
Nat Rev Neurol. 2020 May;16(5):265-284. doi: 10.1038/s41582-020-0348-0. Epub 2020 Apr 22.
Cerebrospinal fluid analyses and neuroimaging can identify the underlying pathophysiology at the earliest stage of some neurodegenerative disorders, but do not have the scalability needed for population screening. Therefore, a blood-based marker for such pathophysiology would have greater utility in a primary care setting and in eligibility screening for clinical trials. Rapid advances in ultra-sensitive assays have enabled the levels of pathological proteins to be measured in blood samples, but research has been predominantly focused on Alzheimer disease (AD). Nonetheless, proteins that were identified as potential blood-based biomarkers for AD, for example, amyloid-β, tau, phosphorylated tau and neurofilament light chain, are likely to be relevant to other neurodegenerative disorders that involve similar pathological processes and could also be useful for the differential diagnosis of clinical symptoms. This Review outlines the neuropathological, clinical, molecular imaging and cerebrospinal fluid features of the most common neurodegenerative disorders outside the AD continuum and gives an overview of the current status of blood-based biomarkers for these disorders.
脑脊液分析和神经影像学检查能够在某些神经退行性疾病的最早阶段识别潜在的病理生理机制,但缺乏用于人群筛查所需的可扩展性。因此,针对此类病理生理机制的血液标志物在初级保健环境以及临床试验的资格筛查中具有更大的实用价值。超灵敏检测技术的迅速发展使得能够在血液样本中测量病理蛋白的水平,但研究主要集中在阿尔茨海默病(AD)上。尽管如此,那些被确定为AD潜在血液生物标志物的蛋白,例如淀粉样β蛋白、tau蛋白、磷酸化tau蛋白和神经丝轻链,可能与其他涉及类似病理过程的神经退行性疾病相关,并且也有助于临床症状的鉴别诊断。本综述概述了AD连续体之外最常见神经退行性疾病的神经病理学、临床、分子影像学和脑脊液特征,并概述了这些疾病基于血液的生物标志物的现状。