Neocortical neuronal arrangement in Miller Dieker syndrome (original) (raw)

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.

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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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Authors and Affiliations

1. Department of Neurology, Beth Israel Deaconess Medical Center, Division of Neurogenetics and Howard Hughes Medical Institute, Boston, MA, 02115, USA
   Volney L. Sheen, Russell J. Ferland, Jason Neal, Megan Harney, Robert S. Hill & Christopher A. Walsh
2. Nuffield Department of Clinical Laboratory Sciences, University of Oxford, Level 4 Academic Block, John Radcliffe Hospital, Oxford, Oxfordshire, OX3 9DU, UK
   Alison Banham & Phillip Brown
3. Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60 611-3008, USA
   Anjen Chenn
4. Department of Neuropathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, 02115, USA
   Joseph Corbo & Rebecca Folkerth
5. Department of Neuropathology, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, MA, 02115, USA
   Jonathan Hecht
6. Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, 02115, USA
   Christopher A. Walsh

Authors

1. Volney L. Sheen
2. Russell J. Ferland
3. Jason Neal
4. Megan Harney
5. Robert S. Hill
6. Alison Banham
7. Phillip Brown
8. Anjen Chenn
9. Joseph Corbo
10. Jonathan Hecht
11. Rebecca Folkerth
12. Christopher A. Walsh

Corresponding author

Correspondence toVolney L. Sheen.

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Sheen, V.L., Ferland, R.J., Neal, J. et al. Neocortical neuronal arrangement in Miller Dieker syndrome.Acta Neuropathol 111, 489–496 (2006). https://doi.org/10.1007/s00401-005-0010-3

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• Received: 21 September 2005
• Revised: 01 November 2005
• Accepted: 02 November 2005
• Published: 03 February 2006
• Issue date: May 2006
• DOI: https://doi.org/10.1007/s00401-005-0010-3

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