ArticleActa neuropathologica2021
Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation.
Article in Acta neuropathologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 42 citations in OpenAlex.
- Differentially Methylated Regions in Human Rhombic Lip Compartments Are Enriched in Putative Active Enhancers, Human Accelerated Regions, and Medulloblastoma Copy Number Aberrations.Cerebellum (London, England) · 2026Article
- The fetal taenia-tela choroidea complex: a radiologic-pathologic correlation from normal anatomy to Dandy-Walker malformation.Pediatric radiology · 2026Article
- Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging.Neuroradiology · 2026Review
- Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria.Prenatal diagnosis · 2026Article
- Prenatal Diagnosis of Keratitis-Ichthyosis-Deafness Syndrome With Dandy Walker Malformation: A Case Report.Case reports in obstetrics and gynecology · 2026Article
- Generating cerebellar organoids from pluripotent stem cells.Disease models & mechanisms · 2026Review
- The transient external granular layer in human foetal cerebellum: insights into neurogenesis, genetic regulation, and developmental disorders.Anatomy & cell biology · 2025Review
- Epigenomic landscape of the developing human rhombic lip reveals gene regulatory network and non-coding loci of developmental, evolutionary, and disease relevance.bioRxiv : the preprint server for biology · 2025Article
- Utility of Biometric Measurements from Fetal Magnetic Resonance Imaging for Improved Antenatal Diagnosis of Dandy-Walker Spectrum Posterior Fossa Lesions.Diagnostics (Basel, Switzerland) · 2025Article
- Mapping the developmental profile of ventricular zone-derived neurons in the human cerebellum.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Fetal imaging of posterior fossa malformations.Pediatric radiology · 2025Review
- Prenatal assessment of brain malformations on neuroimaging: an expert panel review.Brain : a journal of neurology · 2024Review
- Early rhombic lip ProtogeninCell · 2024Article
- Divergent growth of the transient brain compartments in fetuses with nonsyndromic isolated clefts involving the primary and secondary palate.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- Human cerebellar organoids with functional Purkinje cells.Cell stem cell · 2024Article
- Loss of tissue-type plasminogen activator causes multiple developmental anomalies.Brain communications · 2024Article
- Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.American journal of medical genetics. Part A · 2023Article
- Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.AJNR. American journal of neuroradiology · 2023Article
- Fetal brain MRI: neurometrics, typical diagnoses, and resolving common dilemmas.The British journal of radiology · 2023Review
- Human cerebral organoids - a new tool for clinical neurology research.Nature reviews. Neurology · 2022Review
Corrections and comments
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Authors and funding
27 authors at 15 institutions in 6 countries.
Funding
Abstract
Dandy-Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiological criteria are used to distinguish them, yet little is known about their differential developmental disease mechanisms. We acquired prenatal cases diagnosed as DWM and CVH and studied cerebellar morphobiometry followed by histological and immunohistochemical analyses. This was supplemented by laser capture microdissection and RNA-sequencing of the cerebellar rhombic lip, a transient progenitor zone, to assess the altered transcriptome of DWM vs control samples. Our radiological findings confirm that the cases studied fall within the accepted biometric range of DWM. Our histopathological analysis points to reduced foliation and inferior vermian hypoplasia as common features in all examined DWM cases. We also find that the rhombic lip, a dorsal stem cell zone that drives the growth and maintenance of the posterior vermis is specifically disrupted in DWM, with reduced proliferation and self-renewal of the progenitor pool, and altered vasculature, all confirmed by transcriptomics analysis. We propose a unified model for the developmental pathogenesis of DWM. We hypothesize that rhombic lip development is disrupted through either aberrant vascularization and/or direct insult which causes reduced proliferation and failed expansion of the rhombic lip progenitor pool leading to disproportionate hypoplasia and dysplasia of the inferior vermis. Timing of insult to the developing rhombic lip (before or after 14 PCW) dictates the extent of hypoplasia and distinguishes DWM from CVH.
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