Nature Reviews Neurology | April 22, 2020

Ashton NJ, Hye A, Rajkumar AP, Leuzy A, Snowden S, Suarez-Calvet M, Karikari TK, Scholl M, La Joie R, Rabinovici GD, Hoglund K, Ballard C, Hortobagyi T, Svenningsson P, Blennow K, Zetterberg H and Aarsland D.

Nat Rev Neurol. 2020 May;16(5):265-284

DOI: https://doi.org/10.1038/s41582-020-0348-0

Abstract

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.