ArticleJournal of neurology2021
A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.
Article in Journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- A novel homozygous loss-of-function NOTCH3 variant in a Moroccan patient: expanding the spectrum beyond CADASIL.Neurogenetics · 2025Article
- Small Vessel Disease Phenotype Associated With MonoallelicNeurology · 2025Observational
- The pathogenesis of cerebral small vessel disease and vascular cognitive impairment.Physiological reviews · 2025Review
- The Pathobiology of Cerebrovascular Lesions in CADASIL Small Vessel Disease.Basic & clinical pharmacology & toxicology · 2025Review
- Article
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.EBioMedicine · 2024Article
- Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.Molecular biology reports · 2024Article
- Pathophysiology of cerebral small vessel disease: a journey through recent discoveries.The Journal of clinical investigation · 2024Review
- Progress to Clarify HowBiomolecules · 2024Review
- Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice.The Journal of clinical investigation · 2024Article
- Comprehensive insights of Sneddon syndrome: A clinical perspective.Journal of central nervous system disease · 2024Review
- Sneddon syndrome: a rare cause of stroke hidden in plain sight.Acta neurologica Belgica · 2023Article
- Novel heterozygous COL4A2 variant c.2572A > G, p.(I858V) mimicking Sneddon's and Divry van Bogaert Syndrome.Journal of neurology · 2022Article
- Stroke-associated intergenic variants modulate a human FOXF2 transcriptional enhancer.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.Neuropediatrics · 2022Article
- Notch signalling in healthy and diseased vasculature.Open biology · 2022Review
- NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.Neurogenetics · 2022Article
- Notch3 Signaling and Aggregation as Targets for the Treatment of CADASIL and Other NOTCH3-Associated Small-Vessel Diseases.The American journal of pathology · 2021Review
Corrections and comments
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Authors and funding
14 authors at 10 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sneddon syndrome is a rare disorder affecting small and medium-sized blood vessels that is characterized by the association of livedo reticularis and stroke. We performed whole-exome sequencing (WES) in 2 affected siblings of a consanguineous family with childhood-onset stroke and identified a homozygous nonsense mutation within the epidermal growth factor repeat (EGFr) 19 of NOTCH3, p.(Arg735Ter). WES of 6 additional cases with adult-onset stroke revealed 2 patients carrying heterozygous loss-of-function variants in putative NOTCH3 downstream genes, ANGPTL4, and PALLD. Our findings suggest that impaired NOTCH3 signaling is one underlying disease mechanism and that bi-allelic loss-of-function mutation in NOTCH3 is a cause of familial Sneddon syndrome with pediatric stroke.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.