Pelizaeus-Merzbacher disease (PMD) is a rare disorder with X-linked inheritance. The leading symptoms are nystagmus and spastic paraplegia. MRI shows hypomyelination of the central nervous system. The disease is caused by alterations, most often duplications, of the PLP1 gene. There are also autosomal-recessive forms (PMLD); these are heterogeneous.
|Title of host publication||Encyclopedia of Movement Disorders|
|Publication status||Published - 2010|
|Name||Encyclopedia of Movement Disorders|