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

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

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 mimicki...

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Main Authors: Christos Koros, Maria-Eleftheria Evangelopoulos, Costas Kilidireas, Elisabeth Andreadou
Format: Article
Language:English
Published: Hindawi Limited 2013-01-01
Series:Case Reports in Neurological Medicine
Online Access:http://dx.doi.org/10.1155/2013/243652
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spelling doaj-c95420f41be14576b683de7255edae0f2020-11-25T01:05:35ZengHindawi LimitedCase Reports in Neurological Medicine2090-66682090-66762013-01-01201310.1155/2013/243652243652Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A PatientChristos Koros0Maria-Eleftheria Evangelopoulos1Costas Kilidireas2Elisabeth Andreadou31st Department of Neurology, Athens National University, “Aeginition” Hospital, 74 Vas. Sophia’s Avenue, 11528 Athens, Greece1st Department of Neurology, Athens National University, “Aeginition” Hospital, 74 Vas. Sophia’s Avenue, 11528 Athens, Greece1st Department of Neurology, Athens National University, “Aeginition” Hospital, 74 Vas. Sophia’s Avenue, 11528 Athens, Greece1st Department of Neurology, Athens National University, “Aeginition” Hospital, 74 Vas. Sophia’s Avenue, 11528 Athens, GreeceIntroduction. 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.http://dx.doi.org/10.1155/2013/243652
collection DOAJ
language English
format Article
sources DOAJ
author Christos Koros
Maria-Eleftheria Evangelopoulos
Costas Kilidireas
Elisabeth Andreadou
spellingShingle Christos Koros
Maria-Eleftheria Evangelopoulos
Costas Kilidireas
Elisabeth Andreadou
Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient
Case Reports in Neurological Medicine
author_facet Christos Koros
Maria-Eleftheria Evangelopoulos
Costas Kilidireas
Elisabeth Andreadou
author_sort Christos Koros
title Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient
title_short Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient
title_full Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient
title_fullStr Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient
title_full_unstemmed Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient
title_sort central nervous system demyelination in a charcot-marie-tooth type 1a patient
publisher Hindawi Limited
series Case Reports in Neurological Medicine
issn 2090-6668
2090-6676
publishDate 2013-01-01
description 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.
url http://dx.doi.org/10.1155/2013/243652
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AT mariaeleftheriaevangelopoulos centralnervoussystemdemyelinationinacharcotmarietoothtype1apatient
AT costaskilidireas centralnervoussystemdemyelinationinacharcotmarietoothtype1apatient
AT elisabethandreadou centralnervoussystemdemyelinationinacharcotmarietoothtype1apatient
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