Julio C Rojas, Ping Wang, Adam M Staffaroni, Carolin Heller, Yann Cobigo, Amy Wolf, Sheng-Yang M Goh, Peter A Ljubenkov, Hilary W Heuer, Jamie C Fong, Joanne B Taylor, Eliseo Veras, Linan Song, Andreas Jeromin, David Hanlon, Lili Yu, Arvind Khinikar, Rajeev Sivasankaran, Agnieszka Kieloch, Marie-Anne Valentin, Anna M Karydas, Laura L Mitic, Rodney Pearlman, John Kornak, Joel H Kramer, Bruce L Miller, Kejal Kantarci, David S Knopman, Neill Graff-Radford, Leonard Petrucelli, Rosa Rademakers, David J Irwin, Murray Grossman, Eliana Marisa Ramos, Giovanni Coppola, Mario F Mendez, Yvette Bordelon, Bradford C Dickerson, Nupur Ghoshal, Edward D Huey, Ian R Mackenzie, Brian S Appleby, Kimiko Domoto-Reilly, Ging-Yuek R Hsiung, Arthur W Toga, Sandra Weintraub, Daniel I Kaufer, Diana Kerwin, Irene Litvan, Chiadikaobi U Onyike, Alexander Pantelyat, Erik D Roberson, Maria C Tartaglia, Tatiana Foroud, Weiping Chen, Julie Czerkowicz, Danielle L Graham, John C van Swieten, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris R Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, David M Cash, Rhian S Convery, Martina Bocchetta, Martha Foiani, Greaves Caroline V, Georgia Peakman, Lucy Russell, Imogen Swift, Emily Todd, Jonathan D Rohrer, Bradley F Boeve, Howard J Rosen, Adam L Boxer
OBJECTIVE: We tested the hypothesis that plasma neurofilament light chain (NfL) identifies asymptomatic carriers of familial frontotemporal lobar degeneration (FTLD)-causing mutations at risk of disease progression. METHODS: Baseline plasma NfL concentrations were measured with Simoa in original (n = 277) and validation (n = 297) cohorts. C9orf72 , GRN and MAPT mutation carriers and non-carriers from the same families were classified by disease severity [asymptomatic, prodromal and full phenotype] using the CDR® Dementia Staging Instrument plus behavior and language domains from the National Alzheimer's Disease Coordinating Center FTLD module (CDR® +NACC-FTLD)...
April 7, 2021: Neurology