Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study
Publication: The Lancet Neurology
Emma L van der Ende, Lieke H Meeter, Jackie M Poos, Jessica L Panman, Lize C Jiskoot, Elise G P Dopper, Janne M Papma, Frank Jan de Jong, Inge M W Verberk, Prof Charlotte Teunissen, Prof Dimitris Rizopoulos, Carolin Heller, Rhian S Convery, Katrina M Moore, Martina Bocchetta, Mollie Neason, David M Cash, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce Jr, Fermin Moreno, Prof Matthis Synofzik, Prof Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, Prof James B Rowe, et al
1 December 2019
Neurofilament light chain (NfL) is a promising blood biomarker in genetic frontotemporal dementia, with elevated concentrations in symptomatic carriers of mutations in GRN, C9orf72, and MAPT. A better understanding of NfL dynamics is essential for upcoming therapeutic trials. The research team aimed to study longitudinal NfL trajectories in people with presymptomatic and symptomatic genetic frontotemporal dementia.
Their findings show the value of blood NfL as a disease progression biomarker in genetic frontotemporal dementia and suggest that longitudinal NfL measurements could identify mutation carriers approaching symptom onset and capture rates of brain atrophy.
This is important because the characterisation of NfL over the course of disease provides valuable information for its use as a treatment effect marker.