Journal
ANNALS OF NEUROLOGY
Volume 82, Issue 1, Pages 139-146Publisher
WILEY
DOI: 10.1002/ana.24980
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Funding
- NIH National Institute on Aging [P01AG017586, K23AG042856, P30AG10124]
- NIH National Institute of Neurological Disorders and Stroke (NINDS) [R21NS089979, R01NS078398, R35NS097273, R21NS084528, P01NS084974, R01NS088689, R01NS093865]
- NIH NINDS [Z01NS0 03146]
- Department of Defense Amyotrophic Lateral Sclerosis Research Program [AL130125]
- Mayo Clinic Foundation
- Mayo Clinic Center for Individualized Medicine
- Amyotrophic Lateral Sclerosis Association
- Robert Packard Center for ALS Research at Johns Hopkins
- Target ALS
- Association for Frontotemporal Degeneration
- ALS Therapy Alliance
- ALS Finding a Cure Foundation
- Muscular Dystrophy Association [416137, 4365, 172123]
- Italian Ministry of Health [RF-2013-02355764]
- STRENGTH project - EU Joint Program-Neurodegenerative
- CReATe part of the Rare Diseases Clinical Research Network, an initiative of the Office of Rare Diseases Research, National Center for Advancing Translation Sciences (NCATS) [U54-NS092091]
- NCATS
- NINDS
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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.
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