ArticleAJNR. American journal of neuroradiology2010
A novel association between RASA1 mutations and spinal arteriovenous anomalies.
Article in AJNR. American journal of neuroradiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- Capillary malformation-arteriovenous malformation syndrome (CM-AVM): a systematic review of cerebrovascular manifestations.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Pooled it
- KRAS/BRAF mutations in brain arteriovenous malformations: A systematic review and meta-analysis.Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences · 2021Pooled it
- Capillary Malformation-Arteriovenous Malformation Syndrome Associated with RASA1 and EPHB4 Mutations: Comparative Case Series and Narrative Review.Life (Basel, Switzerland) · 2026Review
- Anatomical considerations regarding a high-flow arteriovenous fistula below the conus medullaris in a patient with hereditary hemorrhagic telangiectasia: Case report.Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences · 2026Article
- Efficacy and safety of endovascular embolization for capillary malformation-arteriovenous malformation of the auricular and periauricular region in pediatric patients.Quantitative imaging in medicine and surgery · 2025Article
- Management of Pediatric Intracranial Arteriovenous Malformations.Journal of Korean Neurosurgical Society · 2024Article
- Large saccular intracranial aneurysm in a child with RASA1-associated capillary malformation-arteriovenous malformation syndrome: illustrative case.Journal of neurosurgery. Case lessons · 2023Article
- Genetic syndromes with vascular malformations - update on molecular background and diagnostics.Archives of medical science : AMS · 2021Article
- Hemorrhagic Cerebrovascular Pathology in the Pediatric Population.Frontiers in neurology · 2020Review
- Intradural spinal cord arteriovenous shunts in the pediatric population: natural history, endovascular management, and follow-up.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.Trends in molecular medicine · 2019Review
- Article
- Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.European journal of human genetics : EJHG · 2018Article
- A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia.Hereditas · 2018Article
- Angioarchitecture of Hereditary Arteriovenous Malformations.Seminars in interventional radiology · 2017Review
- The yield of initial conventional MRI in 115 cases of angiographically confirmed spinal vascular malformations.Journal of neurology · 2017Article
- A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2016Article
- Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation.Clinical and experimental dermatology · 2016Article
- Pediatric central nervous system vascular malformations.Pediatric radiology · 2015Review
- Heredity of port-wine stains: investigation of families without a RASA1 mutation.Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeCM-AVM is a recently recognized autosomal dominant disorder associated with mutations in RASA1. Arteriovenous lesions have been reported in the brain, limbs, and the face in 18.5% of patients. We report a novel association between RASA1 mutations and spinal arteriovenous anomalies. MATERIALS AND
methodsIn a collaborative study, 5 index patients (2 females, 3 males) with spinal AVMs or AVFs and cutaneous multifocal capillary lesions were investigated for the RASA1 gene mutation.
resultsAll 5 patients were found to have RASA1 mutation (2 de novo, 3 familial), and all had multifocal capillary malformations at birth. Neurologic deficits developed at ages ranging from infancy to early adulthood. All spinal anomalies (2 AVMs at the conus, 1 AVM at the lumbosacral junction, and 1 cervical and 1 cervicothoracic AVF) were complex, extensive, and fast-flow lesions. All patients required treatment based on the clinical and/or radiologic appearance of the lesions.
conclusionsTo our knowledge, an association of RASA1 mutation and spinal AVM/AVF has not been described. MR imaging screening of patients with characteristic CMs and neurologic symptoms presenting at a young age may be useful in detecting the presence of fast-flow intracranial or intraspinal arteriovenous anomalies before potentially significant neurologic insult has occurred.
Indexed as
Identifiers
What OpenQuestion holds
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.