Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A. Issue 6 (10th September 2019) - Zanette, Giampietro
Abstract: Introduction: Nerve cross‐sectional area (CSA) is larger than normal in Charcot–Marie–Tooth disease 1A (CMT1A), although to a variable extent. We explored whether CSA is correlated with CMT clinical severity measured with neuropathy score version 2 (CMTNS2) and its examination subscore (CMTES2) in CMT1A. Methods: We assessed 56 patients with CMT1A (42 families). They underwent nerve conduction study (NCS) and nerve high‐resolution ultrasound (HRUS) of the left median, ulnar, and fibular nerves. Results: Univariate analysis showed NCS and HRUS variables to be significantly correlated with CMTNS2 and CMTES2 and with each other. Multivariate analysis showed that ulnar motor nerve conduction velocity (β: −0.19) and fibular compound muscle action potential amplitude (−1.50) significantly influenced CMTNS2 and that median forearm CSA significantly influenced CMTNS2 (β: 5.29) and CMTES2 (4.28). Discussion: Nerve size is significantly associated with clinical scores in CMT1A, which suggests that it might represent a potential biomarker of CMT damage and progression.