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Acta Neuropathologica

, Volume 111, Issue 5, pp 489–496 | Cite as

Neocortical neuronal arrangement in Miller Dieker syndrome

  • Volney L. SheenEmail author
  • 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
Case Report

Abstract

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.

Keywords

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

Notes

Acknowledgements

This work was supported by grants to CAW from the NINDS (2R37 NS35129 and 1PO1NS40043), the March of Dimes, and the McKnight Foundation. CAW is an Investigator of the Howard Hughes Medical Institute. VLS is supported by grants from the NIMH (1K08MH/NS63886-01), Julian and Carol Cohen, and the Milton Fund. VLS is a Charles A. Dana fellow and a Beckman Young Investigator.

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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Volney L. Sheen
    • 1
    Email author
  • Russell J. Ferland
    • 1
  • Jason Neal
    • 1
  • Megan Harney
    • 1
  • Robert S. Hill
    • 1
  • Alison Banham
    • 2
  • Phillip Brown
    • 2
  • Anjen Chenn
    • 3
  • Joseph Corbo
    • 4
  • Jonathan Hecht
    • 5
  • Rebecca Folkerth
    • 4
  • Christopher A. Walsh
    • 1
    • 6
  1. 1.Department of Neurology, Beth Israel Deaconess Medical CenterDivision of Neurogenetics and Howard Hughes Medical InstituteBostonUSA
  2. 2.Nuffield Department of Clinical Laboratory SciencesUniversity of OxfordOxfordUK
  3. 3.Department of Pathology, Feinberg School of MedicineNorthwestern UniversityChicagoUSA
  4. 4.Department of Neuropathology, Brigham and Women’s HospitalHarvard Medical SchoolBostonUSA
  5. 5.Department of Neuropathology, Harvard Medical SchoolBeth Israel Deaconess Medical CenterBostonUSA
  6. 6.Program in Biological and Biomedical SciencesHarvard Medical SchoolBostonUSA

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