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Case Reports in Neurological Medicine
Volume 2013 (2013), Article ID 243652, 4 pages
Case Report

Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient

1st Department of Neurology, Athens National University, “Aeginition” Hospital, 74 Vas. Sophia’s Avenue, 11528 Athens, Greece

Received 22 October 2013; Accepted 11 November 2013

Academic Editors: R. Hashimoto, M. Swash, and Y. Wakabayashi

Copyright © 2013 Christos Koros et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Introduction. Central nervous system involvement, either clinical or subclinical, has been reported mainly in X-linked Charcot-Marie-Tooth (CMT-X) patients. Case Presentation. We present the case of a 31-year-old man with a genetically confirmed history of CMT1A who developed CNS involvement mimicking multiple sclerosis (MS). Clinical, imaging, and laboratory findings suggested an autoimmune CNS demyelination. Discussion. Although the simultaneous existence of CMT1A and MS could be coincidental we postulate that overexpression of PMP22, the target protein in CMT1A, might influence the immunological self-tolerance to CNS proteins via molecular mimicry, leading to a CNS autoimmune demyelinating disorder.