OP49 – 2560: PLP1 mutations affecting PLP1/DM20 alternative splicing causes hypomyelination of early myelinating structures

ObjectivesInherited leukodystrophies represent a diagnostic challenge, as many patients remain without definitive diagnosis. In this study we investigated the genetic etiology of the recently described X-linked childhood disorder “Hypomyelination of Early Myelinating Structures” (HEMS). In HEMS, brain structures normally myelinating early, are hypomyelinated, which is in contrast to known hypomyelination disorders, like Pelizaeus-Merzbacher …