IMPE Abstracts

Pelizaeus-Merzbacher disease (PMD; MIM 312080) is a rare X-linked genetic disorder due to a mutation of PLP-1 located on chromosome Xq22. PMD is a hypomyelinating leukodystrophy that results in progressive neurological disease due to loss of the myelin sheath. Gene duplication of PLP-1 is the most common cause of PMD and results in an excess of PLP-1 that then accumulates in the lysosome and causes hypomyelination and oligodendrocytes apoptosis. Patients often present with del...