Setlere, Signe;
Grosmane, Arta;
Kurjane, Natalja;
Gailite, Linda;
Rots, Dmitrijs;
Blennow, Kaj;
Zetterberg, Henrik;
(2023)
Plasma neurofilament light chain level is not a biomarker of Charcot–Marie–Tooth disease progression: Results of 3-year follow-up study.
European Journal of Neurology
, 30
(8)
pp. 2453-2460.
10.1111/ene.15858.
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Abstract
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) is a hereditary, slowly progressive neuropathy. Currently, there are no effective pharmacological treatments or sensitive disease activity biomarkers available. The aim of this study was to demonstrate the change in plasma neurofilament light chain (NfL) over time in a CMT cohort and analyse the association between CMT severity and NfL level. METHODS: Initially, 101 CMT patients and 64 controls were enrolled in the study. Repeated evaluation was performed in 73 patients and 28 controls at a 3-year interval. Disease severity assessment included clinical evaluation with CMT Neuropathy Score version 2 (CMTNSv2). Plasma NfL concentration was measured using the Simoa (single molecule array) NfL assay. RESULTS: Plasma NfL concentration was increased in the CMT group compared with controls (p < 0.001). Overall NfL level increased over the 3-year interval in both CMT (p = 0.012) and control (p = 0.001) groups. However, in 22 of 73 CMT patients and seven of 28 controls, the NfL level decreased from the baseline. Analysing the association between 3-year change in plasma NfL and disease severity (CMTNSv2), there was no correlation in the CMT group (r = 0.228, p = 0.052) or different CMT subgroups. CONCLUSIONS: Our study verifies increased plasma NfL concentrations in patients with CMT compared with controls. Longitudinal 3-year data showed a variable change in NfL levels between CMT subtypes. There was no association between change in NfL over time and disease severity. These findings suggests that NfL is not a biomarker for CMT progression.
| Type: | Article |
|---|---|
| Title: | Plasma neurofilament light chain level is not a biomarker of Charcot–Marie–Tooth disease progression: Results of 3-year follow-up study |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/ene.15858 |
| Publisher version: | https://doi.org/10.1111/ene.15858 |
| Language: | English |
| Additional information: | © 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
| Keywords: | genetic and inherited disorders, polyneuropathy, Humans, Charcot-Marie-Tooth Disease, Follow-Up Studies, Intermediate Filaments, Neurofilament Proteins, Biomarkers, Disease Progression |
| 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 > Neurodegenerative Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10175274 |
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