Plasma neurofilament light chain as a potential biomarker in Charcot‐Marie‐Tooth disease

Elina Millere, Dmitrijs Rots, Joel Simrén, Nicholas J Ashton, Einars Kupats, Ieva Micule, Viktorija Priedite, Natalja Kurjane, Kaj Blennow, Linda Gailite, Henrik Zetterberg, Viktorija Kenina (Coresponding Author)

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)


BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a chronic, slowly progressing disorder. The lack of specific disease progression biomarkers limits the execution of clinical trials. However, neurofilament light chain (NfL) has been suggested as a potential biomarker for peripheral nervous system disorders. METHODS: Ninety-six CMT patients and 60 healthy controls were enrolled in the study. Disease severity assessment included clinical evaluation with CMT Neuropathy Score version 2 (CMTNSv2). Blood plasma NfL concentrations were measured using the single molecule array (Simoa) NfL assay. RESULTS: The NfL concentration was significantly higher in the CMT patient group than in the controls (p<0.001). Of the CMT patients, ones with type CMTX1 had a higher NfL level than those in the two other analysed subgroups (CMT1A and other CMT types) (p=0.0498). The NfL concentration had a significant but weak correlation with the CMTNSv2 (rs =0.25, p=0.012). In one CMT patient with an extremely elevated NfL level, overlap with chronic inflammatory demyelinating polyneuropathy was suspected. ROC analysis showed that an NfL concentration of 8.9 pg/mL could be used to discriminate CMT patients from controls, with an area under the curve of 0.881. CONCLUSIONS: Our study confirmed that the plasma NfL concentration is significantly higher in CMT patients than in controls. Plasma NfL concentration was found to significantly, albeit weakly, reflect the clinical severity of CMT. In the future, NfL may be used, either individually or collaboratively, as a biomarker in the clinical context of suspected CMT; however, several issues need to be addressed first. This article is protected by copyright. All rights reserved.
Original languageEnglish
Pages (from-to)974-981
Number of pages8
JournalEuropean Journal of Neurology
Issue number3
Publication statusPublished - 2021


  • polyneuropathy
  • genetic and inherited disorders

Field of Science*

  • 3.2 Clinical medicine
  • 1.6 Biological sciences

Publication Type*

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


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