Neocortical neuronal arrangement in Miller Dieker syndrome

Volney L. Sheen, Russell J. Ferland, Jason Neal, Megan Harney, Robert S. Hill, Alison Banham, Phillip Brown, Anjen Chenn, Joseph Corbo, Jonathan Hecht, Rebecca Folkerth, Christopher A. Walsh

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9 Scopus citations


Miller Dieker syndrome (MDS, type I lissencephaly) is a neuronal migration disorder, which is caused by deletions along the short arm of chromosome 17 (17p13.3). Recent studies would suggest that the cortical lamination in MDS is inverted, based on morphological criteria. The present neuropathological study examines the cerebral cortex from a 33-week old fetus with MDS using both neuronal and laminar-specific markers. These expression studies demonstrate a relatively preserved cortex and cortical lamination, overlying a layer of immature neurons in MDS brain. The findings are consistent with both a migratory and proliferative defect, giving rise to lissencephaly. Moreover, characterization of such rare human malformations of cortical development by immunohistochemical techniques will provide a greater understanding of the underlying mechanisms.

Original languageEnglish
Pages (from-to)489-496
Number of pages8
JournalActa Neuropathologica
Issue number5
StatePublished - May 2006


  • CNS
  • Cortical development
  • Cortical lamination
  • Lissencephaly
  • Miller Dieker syndrome
  • Neuronal migration
  • Neuronal proliferation
  • Neuropathology


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