{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T23:53:53Z","timestamp":1769730833699,"version":"3.49.0"},"reference-count":43,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,20]],"date-time":"2020-10-20T00:00:00Z","timestamp":1603152000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Changes of brain structure and function have been described in peripheral neuropathies. The aim of our study was to systematically investigate possible modifications of major large\u2010scale brain networks using resting\u2010state functional magnetic resonance imaging (RS\u2010fMRI) in Charcot\u2013Marie\u2013Tooth disease type 1A (CMT1A) patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this cross\u2010sectional study, 3\u2010T MRI brain scans were acquired of right\u2010handed genetically confirmed CMT1A patients and age\u2010 and sex\u2010comparable healthy controls. Patients also underwent clinical and electrophysiological examinations assessing neurological impairment. RS\u2010fMRI data were analysed using a seed\u2010based approach, with 32 different seeds sampling the main hubs of default mode, sensorimotor, visual, salience (SN), dorsal attention, frontoparietal, language and cerebellar networks. Between\u2010group differences in terms of functional connectivity (FC) with the explored seeds were tested voxelwise, correcting for local grey matter density to account for possible structural abnormalities, whilst the relationship between FC modifications and neurological impairment was investigated using robust correlation analyses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eighteen CMT1A patients (34.0\u00a0\u00b1\u00a011.4\u00a0years; M\/F 11\/7) were enrolled, along with 20 healthy controls (30.1\u00a0\u00b1\u00a010.2\u00a0years; M\/F 11\/9). In the CMT group compared to controls, clusters of increased FC with the visual cortex (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.001), SN (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a06 \u00d7 10<jats:sup>\u22124<\/jats:sup>), dorsal attention network (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a08 \u00d7 10<jats:sup>\u22125<\/jats:sup>) and language network (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a07 \u00d7 10<jats:sup>\u20134<\/jats:sup>) were found, along with a single cluster of reduced FC with the visual cortex in the left lentiform nucleus (<jats:italic>P<\/jats:italic>\u00a0=\u00a010<jats:sup>\u20136<\/jats:sup>). A significant correlation emerged between neurophysiological impairment and increased FC with right temporal language areas (<jats:italic>r<\/jats:italic>\u00a0=\u00a00.655, <jats:italic>P<\/jats:italic>\u00a0=\u00a00.006), along with an association between walking ability and increased FC with the left supramarginal gyrus (SN) (<jats:italic>r<\/jats:italic>\u00a0=\u00a00.620, <jats:italic>P<\/jats:italic>\u00a0=\u00a00.006).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our data show evidence of diffuse functional reorganization involving multiple large\u2010scale networks in the CMT1A brain, independent of structural modifications and partially correlating with peripheral nerve damage and functional impairment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14540","type":"journal-article","created":{"date-parts":[[2020,9,21]],"date-time":"2020-09-21T19:21:06Z","timestamp":1600716066000},"page":"305-313","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Diffuse brain connectivity changes in Charcot\u2013Marie\u2013Tooth type 1a patients: a resting\u2010state functional magnetic resonance imaging study"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5425-1890","authenticated-orcid":false,"given":"G.","family":"Pontillo","sequence":"first","affiliation":[{"name":"Department of Advanced Biomedical Sciences University \u2018Federico II\u2019 Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Tozza","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive and Odontostomatological Sciences University 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