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Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF 72 ‐associated amyotrophic lateral sclerosis
Author(s) -
Gendron Tania F.,
Daughrity Lillian M.,
Heckman Michael G.,
Diehl Nancy N.,
Wuu Joanne,
Miller Timothy M.,
Pastor Pau,
Trojanowski John Q.,
Grossman Murray,
Berry James D.,
Hu William T.,
Ratti Antonia,
Benatar Michael,
Silani Vincenzo,
Glass Jonathan D.,
Floeter Mary Kay,
Jeromin Andreas,
Boylan Kevin B.,
Petrucelli Leonard
Publication year - 2017
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24980
Subject(s) - amyotrophic lateral sclerosis , c9orf72 , biomarker , medicine , oncology , neurofilament , cerebrospinal fluid , clinical trial , disease , pathology , biology , frontotemporal dementia , immunohistochemistry , dementia , biochemistry
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