How does CMT involve the central nervous system?

Cerebral white matter abnormalities in patients with Charcot-Marie-Tooth disease

Lee M, Park CH, Chung HK, et al

Ann Neurol 2017; 81:147-151


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.


You may also check out:

Loss of coupling distinguishes GJB1 mutations associated with CNS manifestations of CMT1X from those without CNS manifestations.

Abrams CK, Goman M, Wong S, Scherer SS, Kleopa KA, Peinado A, Freidin MM.

Sci Rep 2017; 7:40166.

These references are now included in the neurochecklist:

Charcot Marie Tooth disease (CMT): differentiating features

Abstract link 1

Abstract link 2

By NIH / U.S. National Library of Medicine -, Public Domain, Link
By NIH / U.S. National Library of Medicine –, Public Domain, Link
By en:Eugène Pirou - [1], Public Domain, Link
By en:Eugène Pirou[1], Public Domain, Link


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