Abstract
AbstractBackgroundThere is an increasing need for the use of fluid biomarkers in clinical management and future therapeutic trials of patients with genetic FTD.MethodSeveral fluid biomarkers have been investigated in the largest longitudinal cohort of patients with genetic FTD (GENFI; n > 1000) associated with mutations in the progranulin (GRN), MAPtau and C9orf72 gene. Concentration changes in neurofilament light and neurofilament high protein (NfL and pNfH), neuronal pentraxin (NPTX2), glial fibrillary acidic protein (GFAP), dipeptides, complement factors and miRNAs have been correlated with disease onset and progression, disease severity and grey matter volume loss in pre‐ and symptomatic carriers. Sequences of biomarker abnormalities were analyzed using discriminative event‐based modelling (DEBM).ResultA number of promising fluid biomarkers have been identified in all or in specific genetic subtypes of FTD, with a specific sequence of biomarker changes over time from pre‐ to symptomatic stage. The next step will bet he development of a multi‐modal prediction tool at individual level, which may improve patient stratification and track the efficacy of therapeutic interventions.ConclusionMajor scientific achievements have been made in fluid biomarker studies of the largest cohort of genetic FTD (GENFI).
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