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Updated: Aug 11, 2026
Large-scale Three-dimensional Imaging of Cellular Organization in the Mouse Neocortex
Published on: September 5, 2018
Neocortical neuronal arrangement in Miller Dieker syndrome
Volney L Sheen1, Russell J Ferland, Jason Neal
1Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA. vsheen@bidmc.harvard.edu
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.
Insights
Miller Dieker syndrome (MDS) involves a neuronal migration disorder. This study reveals a relatively preserved cortex and lamination, suggesting both migratory and proliferative defects in this rare brain malformation.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Miller Dieker syndrome (MDS) is a lissencephaly type I, a neuronal migration disorder.
- MDS is caused by deletions on chromosome 17p13.3.
- Previous studies suggested inverted cortical lamination in MDS based on morphology.
Observation:
- This neuropathological study analyzed the cerebral cortex of a 33-week-old fetus with MDS.
- Neuronal and laminar-specific markers were used for detailed examination.
- The study focused on understanding the cellular and structural abnormalities in MDS.
Findings:
- The cerebral cortex in the MDS fetus showed relatively preserved structure and lamination.
- A layer of immature neurons was observed beneath the relatively normal cortex.
- Immunohistochemical analysis revealed specific cellular and laminar features.
Implications:
- Findings suggest both neuronal migration and proliferation defects contribute to lissencephaly in MDS.
- This research enhances understanding of human malformations of cortical development.
- Immunohistochemistry is valuable for characterizing rare developmental brain disorders.
