Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement
Joint Authors
Koutsis, Georgios
Panas, Marios
Karadima, Georgia
Floroskoufi, Paraskewi
Raftopoulou, Maria
Source
Case Reports in Neurological Medicine
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-03-25
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p.
Cys64Tyr) which was recently reported by our group.
This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS) involvement (diffuse white matter hyperintensity on brain MRI and extensor plantars).
Although this may be a chance association, the increasing number of cases with CMTX and MS, especially with mutations involving the CNS, may imply some causative effect and provide insights into MS pathogenesis.
American Psychological Association (APA)
Koutsis, Georgios& Karadima, Georgia& Floroskoufi, Paraskewi& Raftopoulou, Maria& Panas, Marios. 2015. Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement. Case Reports in Neurological Medicine،Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059066
Modern Language Association (MLA)
Koutsis, Georgios…[et al.]. Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement. Case Reports in Neurological Medicine No. 2015 (2015), pp.1-3.
https://search.emarefa.net/detail/BIM-1059066
American Medical Association (AMA)
Koutsis, Georgios& Karadima, Georgia& Floroskoufi, Paraskewi& Raftopoulou, Maria& Panas, Marios. Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement. Case Reports in Neurological Medicine. 2015. Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059066
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059066