Neocortical neuronal arrangement in Miller Dieker syndrome
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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.
KeywordsMiller Dieker syndrome Lissencephaly Neuronal migration Neuronal proliferation CNS Cortical development Cortical lamination Neuropathology
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.