Cited by 106Fetal and Pediatric Neurological DisordersNeurogenesis and neuroplasticity mechanismsGenetics and Neurodevelopmental Disorders

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The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis

Hevner, Robert F.·2005·Acta Neuropathologica

DOI 10.1007/s00401-005-1059-8

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Abstract

Thanatophoric dysplasia (TD) is a relatively common, fatal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation. The malformation is characterized by a combination of abnormalities, which affect the temporal lobe most severely. Salient features include temporal lobe enlargement, deep transverse sulci across the inferomedial temporal surface, and hippocampal dysplasia. TD is caused by mutations of the fibroblast growth factor (FGF) receptor 3 gene (FGFR3), which result in constitutive activation of the FGFR3 tyrosine kinase. However, the link between constitutive FGFR3 activation and malformation of the cortex has been difficult to elucidate. In this review, I describe the neuropathological features of human TD, especially the cortical malformation, ascertained by examination of 45 published cases and 5 new cases, spanning gestational ages from 18 to 42 weeks. The cortical malformation is interpreted with regard to developmental mechanisms, and observations from a mouse model of TD. The evidence suggests that FGFR3 activation perturbs three key processes in cortical development: areal patterning, progenitor proliferation, and apoptosis. Defective patterning accounts for hippocampal dysplasia, while increased proliferation and decreased apoptosis account for temporal lobe hyperplasia and premature development of aberrant sulci. Disturbances in these processes may also contribute to other cortical malformations.

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Authors: Hevner, R. F.
Affiliations: University of Washington (US)
Corresponding author: Hevner, Robert F.
ORCID: Hevner, Robert F.
Venue: Acta Neuropathologica
Publisher: Springer Science and Business Media LLC
Published: 2005-08-25
Volume: 110
Issue: 3
Pages: 208-221
ISSN: 0001-6322 (ISSN-L)
1432-0533
DOI: 10.1007/s00401-005-1059-8
OpenAlex: W2131483842
Cited by: 106
References: 77
Citations by year: 2026: 2 · 2025: 1 · 2024: 5 · 2023: 3 · 2022: 4 · 2021: 5 · 2020: 4 · 2019: 6 · 2018: 9 · 2017: 11 · 2016: 3 · 2015: 8 · 2014: 10 · 2013: 5 · 2012: 9
FWCI: 2.03
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Acta Neuropathologica (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: thanatophoric dysplasia, cerebral cortex malformation, FGFR3 mutation, neural progenitor proliferation, apoptosis, cortical development
MeSH terms: Animals, Cell Differentiation, Cerebral Cortex, Humans, Mutation, Nervous System Malformations, Thanatophoric Dysplasia, Apoptosis, Body Patterning, Cell Proliferation, Receptor, Fibroblast Growth Factor, Type 3

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The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis

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