Demographic, clinical, imaging, CSF and genetic data of patients with CMTX and MS
| Cases | Sex | Age | Age MS onset | MS onset symptom | MS type | Brain MRI | SC MRI | CSF | MS drugs | GJB1 mutation | Mutation localisation | Previous evidence of CNS involvement | Reference for CNS involvement |
| Case 1 | M | 52 | 46 | ON | RRMS | Multiple PV, JC, SubC, CC and BS lesions, some Gd+ | Cervical T2 lesion | OCB (−) Normal IgG index | Beta-interferon Natalizumab | Cys64Tyr | First extracellular loop | Yes | Karadima et al 19 |
| Case 2 | F | 47 | 45 | SC syndrome | RRMS | Multiple PV, JC, SubC, CC, BS and cerebellar lesions, some Gd+ | Thoracic T2 lesion, Gd+ | OCB (+) Raised IgG index | Natalizumab | Tyr154stop | Second extracellular loop | Yes | Zambelis et al 31 |
| Case 3 | M | 64 | Early 40s | SC syndrome | RRMS | Multiple PV, JC and SubC lesions | Not done | OCB (+) Raised IgG index | None | Thr55Ile | First extracellular loop | Yes | Panas et al 8 |
BS, brainstem; CC, corpus callosum; CMTX, X linked Charcot-Marie-Tooth disease; CNS, central nervous system; CSF cerebrospinal fluid; Gd+, gadolinium enhancing; JC, juxtacortical; MS, multiple sclerosis; OCB, oligoclonal band; ON, optic neuritis; PV, periventricular;RRMS, relapsing remitting multiple sclerosis; SC, spinal cord; SubC, subcortical.