Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement
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...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2015/841897 |
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| author | Georgios Koutsis Georgia Karadima Paraskewi Floroskoufi Maria Raftopoulou Marios Panas |
| author_facet | Georgios Koutsis Georgia Karadima Paraskewi Floroskoufi Maria Raftopoulou Marios Panas |
| author_sort | Georgios Koutsis |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-533f55355a094289bb0c8dd67e8eeaa0 |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-533f55355a094289bb0c8dd67e8eeaa02025-02-03T06:11:02ZengWileyCase Reports in Neurological Medicine2090-66682090-66762015-01-01201510.1155/2015/841897841897Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System InvolvementGeorgios Koutsis0Georgia Karadima1Paraskewi Floroskoufi2Maria Raftopoulou3Marios Panas4Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vasilissis Sophias Avenue, 11528 Athens, GreeceNeurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vasilissis Sophias Avenue, 11528 Athens, GreeceNeurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vasilissis Sophias Avenue, 11528 Athens, GreeceNeurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vasilissis Sophias Avenue, 11528 Athens, GreeceNeurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vasilissis Sophias Avenue, 11528 Athens, GreeceWe 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.http://dx.doi.org/10.1155/2015/841897 |
| spellingShingle | Georgios Koutsis Georgia Karadima Paraskewi Floroskoufi Maria Raftopoulou Marios Panas Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement Case Reports in Neurological Medicine |
| title | Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement |
| title_full | Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement |
| title_fullStr | Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement |
| title_full_unstemmed | Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement |
| title_short | Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement |
| title_sort | relapsing remitting multiple sclerosis in x linked charcot marie tooth disease with central nervous system involvement |
| url | http://dx.doi.org/10.1155/2015/841897 |
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