Nerve size correlates with clinical severity in Charcot-Marie-Tooth disease 1A.

Authors :: Zanette G
Tamburin S
Taioli F
Lauriola MF
Badari A
Ferrarini M
Cavallaro T
Fabrizi GM
Source :: Muscle & nerve [Muscle Nerve] 2019 Dec; Vol. 60 (6), pp. 744-748. Date of Electronic Publication: 2019 Sep 10.
Publication Year :: 2019
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.<br />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.<br />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).<br />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.<br /> (© 2019 Wiley Periodicals, Inc.)