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

Background and purpose Charcot‐Marie‐Tooth (CMT) disease 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 disease 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 NfL assay. Results The NfL concentration was significantly higher in the CMT disease patient group than in the controls (p