Here, we report the structural evidence of cerebral white matter abnormalities in Charcot-Marie-Tooth (CMT) patients and the relationship between these abnormalities and clinical disability. Brain diffusion tensor imaging (DTI) was performed in CMT patients with demyelinating (CMT1A/CMT1E), axonal (CMT2A/CMT2E), or intermediate (CMTX1/DI-CMT) peripheral neuropathy. Although all patients had normal brain magnetic resonance imaging, all genetic subgroups except CMT1A had abnormal DTI findings indicative of significant cerebral white matter abnormalities: decreased fractional anisotropy and axial diffusivity, and increased radial diffusivity. DTI abnormalities were correlated with clinical disability, suggesting that there is comorbidity of central nervous system damage with peripheral neuropathy in CMT patients. ANN NEUROL 2017;81:147–151.
Bibliographical noteFunding Information:
This work was supported by the RP-Grant 2015, 2016 of Ewha Womans University (to C.P.), and grants of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare (HI14C1989), and the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (R01-2011-0015788 and 2014-R1A2A1A11052103; to H.W.L.), and grants of the Korean Health Technology R&D Project, Ministry of Health & Welfare (HI12C0135, HI14C3484, and HI15C1560) and the NRF grants funded by MSIP (NRF-2014R1A2A2A01004240), Republic of Korea (to B.C.).
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