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.
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The authors’ research is partly funded by the National Institute for Health Research (NIHR) Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King’s College London. The views expressed are those of the authors and not necessarily those of the NIHR or the Department of Health and Social Care. H.Z. is a Wallenberg Academy Fellow supported by grants from the Swedish Research Council (2018-02532), the European Research Council (681712), Swedish State Support for Clinical Research (ALFGBG-720931) and the UK Dementia Research Institute at UCL. K.B. is supported by the Torsten Söderberg Foundation, Stockholm, Sweden. P.S. is a Wallenberg Clinical Scholar and is supported by the Swedish Foundation for Strategic Research and the Van Geest Foundation. T.H. is supported by the Hungarian Brain Research Program (2017-1.2.1-NKP-2017-00002). R.L.J. is supported by an Alzheimer’s Association Research Fellowship (AARF-16-443577). M.S. is supported by the Wallenberg Centre for Molecular and Translational Medicine, the Swedish Research Council, the Swedish Alzheimer’s Foundation, and AFTD UK. M.S.-C. received funding from the European Union’s Horizon 2020 Research and Innovation Program under the Marie Sklodowska-Curie action grant agreement no. 752310. N.J.A is supported by the Wallenberg Centre for Molecular and Translational Medicine.
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