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.

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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.

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