Gap junctions in inherited human disorders of the central nervous system

► Astrocytes express Cx30 and Cx43 and Oligodendrocytes express Cx29, Cx32, and Cx47. ► Mutations in GJB1, cause a form of Charcot-Marie-Tooth disease (CMT1X). Some patients have CNS signs and symptoms. ► Recessive mutations in GJC2, the gene for Cx47, are one cause of Pelizaeus-Merzbacher-like disease. ► A different recessive GJC2 mutation causes a form of hereditary spastic paraparesis. ► Dominant mutations in GJA1, cause oculodentodigital dysplasia (ODDD). Spasticity and gait difficulties may be seen.