Christoph Linnemann, Carlo Wilke, David Mengel, Henrik Zetterberg, Carolin Heller, Jens Kuhle, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, John Cornelis Van Swieten, Lize C Jiskoot, Harro Seelaar, Fermin Moreno, Barbara Borroni, Raquel Sánchez-Valle, Daniela Galimberti, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James Benedict Rowe, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonca, Chris R Butler, Alexander Gerhard, Simon Ducharme, Isabelle L E Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan Daniel Rohrer, Matthis Synofzik
BACKGROUND: Blood neurofilament light chain (NfL) is increasingly considered as a key trial biomarker in genetic frontotemporal dementia (gFTD). We aimed to facilitate the use of NfL in gFTD multicentre trials by testing its (1) reliability across labs; (2) reliability to stratify gFTD disease stages; (3) comparability between blood matrices and (4) stability across recruiting sites. METHODS: Comparative analysis of blood NfL levels in a large gFTD cohort (GENFI) for (1)-(4), with n=344 samples (n=148 presymptomatic, n=11 converter, n=46 symptomatic subjects, with mutations in C9orf72 , GRN or MAPT ; and n=139 within-family controls), each measured in three different international labs by Simoa HD-1 analyzer...
February 1, 2024: Journal of Neurology, Neurosurgery, and Psychiatry