Neocortical neuronal arrangement in Miller Dieker syndrome.
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.
Sheen
Volney L
VL
Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA. vsheen@bidmc.harvard.edu
Ferland
Russell J
RJ
Neal
Jason
J
Harney
Megan
M
Hill
Robert S
RS
Banham
Alison
A
Brown
Phillip
P
Chenn
Anjen
A
Corbo
Joseph
J
Hecht
Jonathan
J
Folkerth
Rebecca
R
Walsh
Christopher A
CA
D037881:Aborted Fetus; D000022:Abortion, Spontaneous; D002465:Cell Movement / Q000502:physiology; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D008297:Male; D019579:Neocortex / Q000002:abnormalities* / Q000473:pathology; D009421:Nervous System Malformations / Q000175:diagnosis / Q000473:pathology*; D009474:Neurons / Q000473:pathology* / Q000502:physiology; D011247:Pregnancy; D013577:Syndrome