Journal Article

164 Fluid biomarkers in charcot-marie-tooth disease

Kramarz, Caroline, Skorupinska, Mariola, Matilde, Laura, Rinaldi, Simon, Bellanti, Roberto, M Rossor Alexander, M Reilly Mary, P Lunn Michael

2025

Overview

Reliable biomarkers are needed to inform clinical management and trials in Charcot-Marie-Tooth disease (CMT), the most common inherited neuropathy. Peripherin and periaxin, biomarkers of peripheral nerve axonal damage and demyelination, respectively, have recently been validated in the inflammatory neuropathies. Here, we evaluate their potential utility in CMT, alongside neurofilament light chain (NfL) and existing outcome measures.We measured serum peripherin, periaxin, and NfL in patients with CMT1A (n=12),CMT2A (n=8) and CMTX (n=8), and compared levels to healthy controls (HC, n=20).Peripherin was higher in CMT1A, CMT2A, and CMTX compared to HC (all p<0.05). NfL was higher in all neuropathy groups versus HC (all p<0.01). Periaxin was elevated in two out of eight CMT2A patients, two out of eight CMTX patients, and below detection limit in CMT1A. Strong correlations were observed between peripherin and clinical tests: stair climb test CMT1A (rho = -0.912, p=0.0006) and 6-minute walk test in CMTX (rho = -1, p=0.0167).Fluid biomarkers show promise in CMT. We aim to selectively measure periaxin in patients with clinical evidence of disease progression, where elevated levels may indicate active demyelination. Larger cohorts are being tested to assess the individual and combined contributions of all three biomarkers to clinical [e-mail]

• Publisher: BMJ Publishing Group LTD
• Subject: Biomarkers