Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.

Purpose: Brain involvement in X-linked Charcot-Marie-Tooth disease (CMTX) has been previously reported. We studied the brain structural and functional integrity using a multimodal neuroimaging approach in patients with no current central nervous system (CNS) symptoms, in order to further delineate t...

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Published in:Neuroradiology Vol. 64; no. 3; pp. 543 - 553
Main Authors: Karavasilis, Efstratios, Christidi, Foteini, Pantou, Eirini, Angelopoulou, Georgia, Kasselimis, Dimitrios, Breza, Marianthi, Kontogeorgiou, Zoi, Filippiadis, Dimitrios, Potagas, Constantin, Karadima, Georgia, Koutsis, Georgios, Velonakis, Georgios
Format: diagnostic images research tables/charts Journal Article
Published: Springer Nature Mar2022
Online Access:View this record in EBSCOhost
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      dt: Mar2022
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      pub: Springer Nature
      place: New York, New York
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        10.1007/s00234-021-02730-x
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        atl: Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.
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          Karavasilis, Efstratios
          Christidi, Foteini
          Pantou, Eirini
          Angelopoulou, Georgia
          Kasselimis, Dimitrios
          Breza, Marianthi
          Kontogeorgiou, Zoi
          Filippiadis, Dimitrios
          Potagas, Constantin
          Karadima, Georgia
          Koutsis, Georgios
          Velonakis, Georgios
        affil: 2nd Department of Radiology, Medical School, National and Kapodistrian University of Athens, Athens, Greece
      sug:
        subj:
          Charcot-Marie-Tooth Disease
          Brain Anatomy and Histology
          Genetic Diseases, X-Linked
          Neuroradiography
          Phenotype
          Human
          Brain Radiography
          Magnetic Resonance Imaging
          Gray Matter Analysis
          Brain Hemispheres
          Hippocampus
          Cerebellum
      ab: Purpose: Brain involvement in X-linked Charcot-Marie-Tooth disease (CMTX) has been previously reported. We studied the brain structural and functional integrity using a multimodal neuroimaging approach in patients with no current central nervous system (CNS) symptoms, in order to further delineate the disease's phenotype. Methods: Seventeen CMTX patients with no current CNS symptoms and 24 matched healthy controls underwent brain magnetic resonance imaging (MRI). Structural integrity was evaluated performing Gray matter analysis with voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS) of diffusion tensor imaging (DTI). Functional integrity was evaluated with resting-state functional MRI (rs-fMRI). Results: Decreased gray matter density was detected in CMTX patients compared to healthy controls in bilateral hippocampus, left thalamus, left postcentral gyrus, left superior parietal lobule, left cerebellum crus I and II, and vermis VI. DTI analysis showed increased fractional anisotropy and radial diffusivity in the right anterior insula and increased axial diffusivity in right cerebellum crus I in CMTX patients. rs-fMRI revealed decreased spontaneous neural activity on left precentral gyrus in patients compared to healthy controls. Conclusion: Advanced magnetic resonance (MR) neuroimaging techniques in CMTX patients revealed structural and functional involvement of multiple motor and extra-motor brain areas. MR neuroimaging techniques have the potential to delineate the CNS phenotype of a peripheral neuropathy like CMTX.
      pubtype: Academic Journal
      doctype:
        diagnostic images
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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