Pelizaeus-Merzbacher Disease

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Abstract

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.
Original languageEnglish
Title of host publicationEncyclopedia of Movement Disorders
PublisherElsevier Inc.
Pages441-444
ISBN (Electronic)9780123741059
ISBN (Print)9780123741011
DOIs
Publication statusPublished - 2010

Publication series

NameEncyclopedia of Movement Disorders

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