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Plasma neurofilament heavy chain is not a useful biomarker in Charcot–Marie–Tooth disease

Rossor, AM; Liu, CH; Petzold, A; Malaspina, A; Laura, M; Greensmith, L; Reilly, MM; (2016) Plasma neurofilament heavy chain is not a useful biomarker in Charcot–Marie–Tooth disease. Muscle & Nerve , 53 (6) pp. 972-975. 10.1002/mus.25124. Green open access

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Abstract

INTRODUCTION: The negative results in trials of vitamin C in Charcot-Marie-Tooth disease (CMT) type 1A have highlighted the lack of sensitive outcome measures. Neurofilaments are abundant neuronal cytoskeletal proteins, and their concentration in blood is likely to reflect axonal breakdown. We therefore examined plasma neurofilament heavy-chain (NfH) concentration as a potential biomarker in CMT. METHODS: Blood samples were collected from healthy controls and patients with CMT over a 2-year period. Disease severity was measured using the CMT Examination Score. An in-house enzyme-linked immunoabsorbent assay was used to measure plasma NfH levels. RESULTS: There was no significant difference in plasma NfH concentrations between CMT patients and controls (P = 0.449). There was also no significant difference in plasma NfH levels in the CMT group over 1 year (mean difference = -0.02, SEM = 4.44, P = 0.98). CONCLUSIONS: Plasma NfH levels are not altered in patients with CMT and are not a suitable biomarker of disease activity.

Type: Article
Title: Plasma neurofilament heavy chain is not a useful biomarker in Charcot–Marie–Tooth disease
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/mus.25124
Publisher version: http://dx.doi.org/10.1002/mus.25124
Language: English
Additional information: This is the peer reviewed version of the following article: Rossor, AM; Liu, CH; Petzold, A; Malaspina, A; Laura, M; Greensmith, L; Reilly, MM; (2016) Plasma neurofilament heavy chain is not a useful biomarker in Charcot–Marie–Tooth disease. Muscle & Nerve, 53 (6) pp. 972-975, which has been published in final form at: http://dx.doi.org/10.1002/mus.25124. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving (http://olabout.wiley.com/WileyCDA/Section/id-828039.html#terms).
Keywords: CMT, Charcot-Marie-Tooth disease, ELISA, neurofilament heavy chain, outcome measure, plasma
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1479583
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