Like X-linked Pelizaeus-Merzbacher disease (PMD, MIM: 312080), which is caused by mutations in the gene encoding proteolipid protein 1 (PLP1, MIM: 300401), one of the major proteins in the central nervous system (CNS) myelin, PMLD is characterized by impaired motor development resulting in nystagmus, dysarthria, progressive spasticity and ataxia. This evidence concerns the gene PLP1 and Pelizeaus-Merzbacher spectrum disorder.