@article{074f8e709acb430b9613d1217ca342b5,
title = "Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis",
abstract = "As potential treatments for C9ORF72-associated amyotrophic lateral sclerosis (c9ALS) approach clinical trials, the identification of prognostic biomarkers for c9ALS becomes a priority. We show that levels of phosphorylated neurofilament heavy chain (pNFH) in cerebrospinal fluid (CSF) predict disease status and survival in c9ALS patients, and are largely stable over time. Moreover, c9ALS patients exhibit higher pNFH levels, more rapid disease progression, and shorter survival after disease onset than ALS patients without C9ORF72 expansions. These data support the use of CSF pNFH as a prognostic biomarker for clinical trials, which will increase the likelihood of successfully developing a treatment for c9ALS. Ann Neurol 2017;82:139–146.",
author = "{C9ORF72 Neurofilament Study Group} and Gendron, {Tania F.} and Daughrity, {Lillian M.} and Heckman, {Michael G.} and Diehl, {Nancy N.} and Joanne Wuu and Miller, {Timothy M.} and Pau Pastor and Trojanowski, {John Q.} and Murray Grossman and Berry, {James D.} and Hu, {William T.} and Antonia Ratti and Michael Benatar and Vincenzo Silani and Glass, {Jonathan D.} and Floeter, {Mary Kay} and Andreas Jeromin and Boylan, {Kevin B.} and Leonard Petrucelli and Mercedes Prudencio and Caputo, {Ana M.} and Pamela Desaro and Carla Palmucci and Amelia Robertson and Yuping Song and Rush, {Beth K.} and Otto Pedraza and David Lacomis and Shafeeq Ladha and Fournier, {Christina N.} and McCluskey, {Leo F.} and Elman, {Lauren B.} and Toledo, {Jon B.} and McBride, {Jennifer D.} and Cinzia Tiloca and Claudia Morelli and Barbara Poletti and Federico Verde and Alessandro Prelle and Jennifer Jockel-Balsarotti and Rosa Rademakers and Miller, {Bruce L.} and Boxer, {Adam L.} and Rosen, {Howard J.} and Brown, {Robert H.} and Boeve, {Bradley F.} and Robert Bowser and Monica Diez and Miquel Aguilar and Rothstein, {Jeffrey D.}",
note = "Funding Information: This work was supported by the NIH National Institute on Aging (P01AG017586, M.G., J.Q.T.; K23AG042856, W.T.H.; P30AG10124, J.Q.T., M.G.), NIH National Institute of Neurological Disorders and Stroke (NINDS; R21NS089979, K.B.B., T.F.G.; R01NS078398, T.M.M.; R35NS097273, L.P.; R21NS084528, L.P.; P01NS084974, L.P., K.B.B.; R01NS088689, L.P.; R01NS093865, L.P.), NIH NINDS Intramural Research Program (Z01NS0 03146, M.K.F.), Department of Defense Amyotrophic Lateral Sclerosis Research Program (AL130125, L.P.), Mayo Clinic Foundation (L.P.), Mayo Clinic Center for Individualized Medicine (K.B.B., T.F.G., L.P.), Amyotrophic Lateral Sclerosis Association (K.B.B., M.B, J.D.G., T.F.G., L.P., J.W.), Robert Packard Center for ALS Research at Johns Hopkins (L.P.), Target ALS (L.P.), Association for Frontotemporal Degeneration (L.P.), ALS Therapy Alliance (J.D.B., J.D.G), ALS Finding a Cure Foundation (J.D.B.), Muscular Dystrophy Association (416137, T.F.G.; 4365, M.B., J.W.; 172123, M.B., J.W.), Italian Ministry of Health (RF-2013-02355764, A.R., V.S.), STRENGTH project funded by EU Joint Program–Neurodegenerative (A.R., V.S.), and CReATe (U54-NS-092091, M.B, J.W.), which is part of the Rare Diseases Clinical Research Network, an initiative of the Office of Rare Diseases Research, National Center for Advancing Translation Sciences (NCATS). CReATe is funded through collaboration between NCATS and NINDS. We thank all patients who donated samples; the NIH centers and programs that made this study possible; J. An at Iron Horse Diagnostics for expert technical guidance; T. Hyman for sample processing at Washington University; and J. Farren for study coordination at NINDS. Publisher Copyright: {\textcopyright} 2017 The Authors Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association",
year = "2017",
month = jul,
doi = "10.1002/ana.24980",
language = "English",
volume = "82",
pages = "139--146",
journal = "Annals of Neurology",
issn = "0364-5134",
number = "1",
}