Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient. (16th December 2013)

• Record Type: Journal Article
• Authors: Koros, Christos; Evangelopoulos, Maria-Eleftheria; Kilidireas, Costas; Andreadou, Elisabeth
• Other Names: Hashimoto R. Academic Editor.; Swash M. Academic Editor.; Wakabayashi Y. Academic Editor.
• Is Part Of: Case reports in neurological medicine. Volume 2013(2013)
• Publication Date: 2013-12-16
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; Neurology; Nervous System Diseases; Nervous system -- Diseases; Neurology; Electronic journals; Periodicals; Periodicals; 616.8
• DOI: 10.1155/2013/243652
• Languages: English
• ISSNs: 2090-6676

Abstract

Abstract : 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.