Plasma neurofilament light chain level is not a biomarker of Charcot–Marie–Tooth disease progression: Results of 3-year follow-up study

Signe Setlere (Corresponding Author), Arta Grosmane, Natalja Kurjane, Linda Gailite, Dmitrijs Rots, Kaj Blennow, Henrik Zetterberg, Viktorija Kenina

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)2453-2460
Number of pages8
JournalEuropean Journal of Neurology
Volume30
Issue number8
DOIs
Publication statusPublished - Aug 2023

Keywords*

  • genetic and inherited disorders
  • polyneuropathy

Field of Science*

  • 3.2 Clinical medicine
  • 3.1 Basic medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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