Neuropathology of Brain and Spinal Malformations in a Case of Monosomy 1p36

Overview

Journal Acta Neuropathol Commun

Publisher Biomed Central

Specialty Neurology

Date 2013 Nov 21

PMID 24252393

Citations 11

Authors

Naoko Shiba

Ray A M Daza

Lisa G Shaffer

A James Barkovich

William B Dobyns

Robert F Hevner

Affiliations

Soon will be listed here.

Abstract

Monosomy 1p36 is the most common subtelomeric chromosomal deletion linked to mental retardation and seizures. Neuroimaging studies suggest that monosomy 1p36 is associated with brain malformations including polymicrogyria and nodular heterotopia, but the histopathology of these lesions is unknown. Here we present postmortem neuropathological findings from a 10 year-old girl with monosomy 1p36, who died of respiratory complications. The findings included micrencephaly, periventricular nodular heterotopia in occipitotemporal lobes, cortical dysgenesis resembling polymicrogyria in dorsolateral frontal lobes, hippocampal malrotation, callosal hypoplasia, superiorly rotated cerebellum with small vermis, and lumbosacral hydromyelia. The abnormal cortex exhibited "festooned" (undulating) supragranular layers, but no significant fusion of the molecular layer. Deletion mapping demonstrated single copy loss of a contiguous 1p36 terminal region encompassing many important neurodevelopmental genes, among them four HES genes implicated in regulating neural stem cell differentiation, and TP73, a monoallelically expressed gene. Our results suggest that brain and spinal malformations in monosomy 1p36 may be more extensive than previously recognized, and may depend on the parental origin of deleted genes. More broadly, our results suggest that specific genetic disorders may cause distinct forms of cortical dysgenesis.

Citing Articles

The Genetic Landscape of Polymicrogyria.

James J, Iype M, Surendran M, Anitha A, Thomas S Ann Indian Acad Neurol. 2022; 25(4):616-626.

PMID: 36211152 PMC: 9540929. DOI: 10.4103/aian.aian_97_22.

Development of prefrontal cortex.

Kolk S, Rakic P Neuropsychopharmacology. 2021; 47(1):41-57.

PMID: 34645980 PMC: 8511863. DOI: 10.1038/s41386-021-01137-9.

The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series.

Conway K, Ghafoor F, Gottschalk A, Laakman J, Eigsti R, Nashelsky M J Neuropathol Exp Neurol. 2021; 80(9):856-860.

PMID: 34363665 PMC: 8476076. DOI: 10.1093/jnen/nlab072.

1p36 deletion syndrome: first case report in Morocco detected by fluorescence hybridization.

Dafir K, Bouzid F, Mansouri M, Aboussair N Pan Afr Med J. 2021; 37:349.

PMID: 33738037 PMC: 7934206. DOI: 10.11604/pamj.2020.37.349.26166.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Pagnamenta A, Kaiyrzhanov R, Zou Y, Daas S, Maroofian R, Donkervoort S Brain. 2021; 144(2):584-600.

PMID: 33559681 PMC: 8263055. DOI: 10.1093/brain/awaa420.

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