Myelination of a fetus with Pelizaeus-Merzbacher disease: immunopathological study

Ann Neurol. 2003 Aug;54(2):259-62. doi: 10.1002/ana.10660.

Abstract

We report an autopsied case of a 21-gestational-week fetus with duplication of the proteolipid protein (PLP) gene (PLP1). An immunohistochemical study, which can detect the specific expression of PLP, myelin basic protein, myelin-associated glycoprotein, and platelet-derived growth factor receptor alpha subunit in brain tissues, showed that the myelination was almost the same as that of age-matched controls. This result suggests that the development and migration of the oligodendrocyte is normal in Pelizaeus-Merzbacher disease until midgestation. To our knowledge, this is the first report of the myelination of a fetus with duplication of the PLP1 gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Humans
  • Immunohistochemistry
  • Male
  • Membrane Proteins*
  • Myelin Proteolipid Protein / genetics
  • Myelin Sheath / pathology*
  • Myelin-Associated Glycoprotein / genetics
  • Pelizaeus-Merzbacher Disease / pathology*
  • Pregnancy
  • Receptor, Platelet-Derived Growth Factor alpha / genetics

Substances

  • Membrane Proteins
  • Myelin Proteolipid Protein
  • Myelin-Associated Glycoprotein
  • PLP1 protein, human
  • Receptor, Platelet-Derived Growth Factor alpha