ArticleActa neuropathologica communications2013
Neuropathology of brain and spinal malformations in a case of monosomy 1p36.
Article in Acta neuropathologica communications, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 27 citations in OpenAlex.
- Development of prefrontal cortex.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2022Review
- The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series.Journal of neuropathology and experimental neurology · 2021Article
- An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.Brain : a journal of neurology · 2021Article
- 1p36 deletion syndrome: first case report in Morocco detected by fluorescenceThe Pan African medical journal · 2020Article
- Deconstructing cortical folding: genetic, cellular and mechanical determinants.Nature reviews. Neuroscience · 2019Review
- Malformations of Cerebral Cortex Development: Molecules and Mechanisms.Annual review of pathology · 2019Review
- Rer1-mediated quality control system is required for neural stem cell maintenance during cerebral cortex development.PLoS genetics · 2018Article
- Malformations of cortical development and epilepsy.Cold Spring Harbor perspectives in medicine · 2015Review
- Polymicrogyria: pathology, fetal origins and mechanisms.Acta neuropathologica communications · 2014Review
- Growth and folding of the mammalian cerebral cortex: from molecules to malformations.Nature reviews. Neuroscience · 2014Review
- The Genetic Landscape of Polymicrogyria.Annals of Indian Academy of NeurologyArticle
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Authors and funding
6 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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