title: Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement.
abstract: 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.
authors.affiliation: Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vasilissis Sophias Avenue, 11528 Athens, Greece.
authors.forename: Georgios
authors.identifier: 0000-0002-8980-8377
authors.initials: G
authors.lastname: Koutsis
authors.affiliation: Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vasilissis Sophias Avenue, 11528 Athens, Greece.
authors.forename: Georgia
authors.initials: G
authors.lastname: Karadima
authors.affiliation: Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vasilissis Sophias Avenue, 11528 Athens, Greece.
authors.forename: Paraskewi
authors.initials: P
authors.lastname: Floroskoufi
authors.affiliation: Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vasilissis Sophias Avenue, 11528 Athens, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Raftopoulou
authors.affiliation: Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vasilissis Sophias Avenue, 11528 Athens, Greece.
authors.forename: Marios
authors.initials: M
authors.lastname: Panas