Diffuse brain connectivity changes in Charcot–Marie–Tooth type 1a patients: a resting‐state functional magnetic resonance imaging study

• DOI: 10.1111/ene.14540
• Publication Date: 2020-09-21T19:21:06Z
• Authors: G. Pontillo; S. Tozza; T. Perillo; S. Cocozza; R. Dubbioso; D. Severi; R. Iodice; E. Tedeschi; A. Elefante; A. Brunetti; F. Manganelli; M. Quarantelli
• Keywords: Salience (neuroscience)

Background and purpose Changes of brain structure function have been described in peripheral neuropathies. The aim our study was to systematically investigate possible modifications major large‐scale networks using resting‐state functional magnetic resonance imaging (RS‐fMRI) Charcot–Marie–Tooth disease type 1A (CMT1A) patients. Methods In this cross‐sectional study, 3‐T MRI scans were acquired right‐handed genetically confirmed CMT1A patients age‐ sex‐comparable healthy controls. Patients also underwent clinical electrophysiological examinations assessing neurological impairment. RS‐fMRI data analysed a seed‐based approach, with 32 different seeds sampling the main hubs default mode, sensorimotor, visual, salience (SN), dorsal attention, frontoparietal, language cerebellar networks. Between‐group differences terms connectivity (FC) explored tested voxelwise, correcting for local grey matter density account structural abnormalities, whilst relationship between FC impairment investigated robust correlation analyses. Results Eighteen (34.0 ± 11.4 years; M/F 11/7) enrolled, along 20 controls (30.1 10.2 11/9). CMT group compared controls, clusters increased visual cortex ( P = 0.001), SN < 6 × 10 −4 ), attention network 8 −5 ) 7 –4 found, single cluster reduced left lentiform nucleus –6 ). A significant emerged neurophysiological right temporal areas r 0.655, 0.006), an association walking ability supramarginal gyrus (SN) 0.620, 0.006). Conclusions Our show evidence diffuse reorganization involving multiple brain, independent partially correlating nerve damage