Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement

Georgios Koutsis; Georgia Karadima; Paraskewi Floroskoufi; Maria Raftopoulou; Marios Panas

doi:10.1155/2015/841897

Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement

Case Rep Neurol Med. 2015:2015:841897. doi: 10.1155/2015/841897. Epub 2015 Mar 25.

Authors

Georgios Koutsis¹, Georgia Karadima¹, Paraskewi Floroskoufi¹, Maria Raftopoulou¹, Marios Panas¹

Affiliation

¹ Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vasilissis Sophias Avenue, 11528 Athens, Greece.

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.