ArticleBMJ case reports2013
Cerebral arteriopathy associated with Arg179His ACTA2 mutation.
Article in BMJ case reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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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.
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Who cites it
8 citing papers in PubMed, 31 citations in OpenAlex.
- Paediatric cerebrovascular syndromes: imaging clues to a diagnosis.The British journal of radiology · 2025Article
- Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.Frontiers in pharmacology · 2024Article
- Childhood Cerebral Vasculitis : A Multidisciplinary Approach.Clinical neuroradiology · 2023Review
- Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.American journal of medical genetics. Part A · 2022Article
- Nonsurgical treatment of cerebral ischemia associated with ACTA2 cerebral arteriopathy: a case report and literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Review
- Arteriopathy in pediatric stroke: an underestimated clinical entity.Arquivos de neuro-psiquiatria · 2021Review
- Cerebrovascular Disease Progression in Patients WithNeurology · 2021Article
- α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.Brazilian journal of cardiovascular surgeryReview
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ACTA2 mutations have recently been shown to cause a multisystem smooth muscle dysfunction syndrome that may result in pediatric stroke. We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute ischemic stroke and provide high resolution imaging of the cerebral arteries demonstrating novel findings of multiple tiny aneurysms (particularly in the posterior circulation), as well as the more characteristic imaging phenotype of straightened and narrowed proximal intracranial vessels, dilated cervical vessels and occlusion of the M1 MCA segment without lenticulostriate collateral formation. This newly identified disease should be added to the differential diagnosis of pediatric stroke and cerebral vasculopathy. Neuroradiologists, interventionalists, surgeons and neurologists should become familiar with this rare disease and its clinical sequelae.
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Registered trials
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