A timely diagnosis of frontotemporal degeneration (FTD) is frequently challenging due to the heterogeneous symptomatology and poor phenotype-pathological correlation. Fluid biomarkers that reflect FTD pathophysiology could be instrumental in both clinical practice and pharmaceutical trials. In recent years, significant progress has been made in developing biomarkers of neurodegenerative diseases: amyloid-β and tau in cerebrospinal fluid (CSF) can be used to exclude Alzheimer's disease, while neurofilament light chain (NfL) is emerging as a promising, albeit nonspecific, marker of neurodegeneration in both CSF and blood. Gene-specific biomarkers such as PGRN in GRN mutation carriers and dipeptide repeat proteins in C9orf72 mutation carriers are potential target engagement markers in genetic FTD trials. Novel techniques capable of measuring very low concentrations of brain-derived proteins in peripheral fluids are facilitating studies of blood biomarkers as a minimally invasive alternative to CSF. A major remaining challenge is the identification of a biomarker that can be used to predict the neuropathological substrate in sporadic FTD patients.

Amyloid-β, Blood biomarker, Cerebrospinal fluid biomarker, Dipeptide repeat proteins, Neurofilament light chain, Progranulin, Tau
dx.doi.org/10.1007/978-3-030-51140-1_9, hdl.handle.net/1765/134303
Advances in Experimental Medicine and Biology
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Department of Neurology

van der Ende, E.L, & van Swieten, J.C. (2021). Fluid Biomarkers of Frontotemporal Lobar Degeneration. Advances in Experimental Medicine and Biology, 1281, 123–139. doi:10.1007/978-3-030-51140-1_9