Genetics of pelizaeus-merzbacher disease

M. E. Hodes, Victoria M. Pratt, Stephen R. Dlouhy

Research output: Contribution to journalArticlepeer-review

111 Scopus citations


Pelizaeus-Merzbacher disease (PMD) has been recognized as a clinical entity for more than a century. It has gradually become apparent that the disorder is a dysmyelination, in distinction to demyelinating conditions such as adrenoleukodystrophy. The failure to deposit myelin is due to decreased production of its chief protein, proteolipid protein (PLP). In about 30% of patients with the diagnosis of PMD there is a mutation in the coding portion of the proteolipid protein gene, PZJPThis gene is located at Xq22 so the disease in these families shows an X-linked pattern of inheritance. The expression of the mutant gene is generally recessive, but some mutations are expressed frequently in females. At least some patients with PMD that do not show mutations in the coding region of PLP demonstrate linkage between the disease and PLP As additional mutations in PLP are discovered, it is becoming apparent that the nosology of PLP-associated disease is changing. PMD now comprises a spectrum of disorders with similar but not necessarily identical clinical pictures. Some of these disorders may be certain forms of X-linked paraplegia, SPG2. Finally, some diseases that look like PMD may not be X-linked.

Original languageEnglish (US)
Pages (from-to)383-394
Number of pages12
JournalDevelopmental Neuroscience
Issue number6
StatePublished - Jan 1 1993


  • Central nervous system
  • Myelin
  • Nystagmus
  • Pelizaeus-Merzbacher disease
  • Proteolipid protein gene

ASJC Scopus subject areas

  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

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