Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis

C9ORF72 Neurofilament Study Group

Research output: Contribution to journalArticle

24 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)139-146
Number of pages8
JournalAnnals of Neurology
Volume82
Issue number1
DOIs
StatePublished - Jul 1 2017

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Intermediate Filaments
Amyotrophic Lateral Sclerosis
Biomarkers
Survival
Cerebrospinal Fluid
Clinical Trials
Disease Progression
Therapeutics

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Phosphorylated neurofilament heavy chain : A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. / C9ORF72 Neurofilament Study Group.

In: Annals of Neurology, Vol. 82, No. 1, 01.07.2017, p. 139-146.

Research output: Contribution to journalArticle

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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.",
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