ArticleActa neuropathologica communications2015
The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.
Article in Acta neuropathologica communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 51 citations in OpenAlex.
- Re-Purposing Sapropterin (Kuvan) for ACTA2-Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First-In-Human Therapeutic Report.Annals of clinical and translational neurology · 2026Article
- Smooth Muscle Dysfunction Drives Cerebrovascular Reserve Failure and End-Organ Brain Injury.bioRxiv : the preprint server for biology · 2026Article
- Immature Acta2Nature communications · 2025Article
- Review
- Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation.JCI insight · 2023Article
- Beyond the cytoplasm: nuclear α-actin influences differentiation.Nature cardiovascular research · 2023Article
- Nuclear Smooth Muscle α-actin Participates in Vascular Smooth Muscle Cell Differentiation.Nature cardiovascular research · 2023Article
- Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.Brain : a journal of neurology · 2023Article
- A familial missense ACTA2 variant p.Arg198Cys leading to Moyamoya-like arteriopathy with straight course of the intracranial arteries, aortic aneurysm and lethal aortic dissection.Neurological research and practice · 2023Article
- Communicating hydrocephalus and raised intracranial pressure in association with multi-systemic smooth muscle dysfunction syndrome (MSMDS).Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Article
- Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient.Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2023Article
- 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
- Article
- Novel targetable FGFR2 and FGFR3 alterations in glioblastoma associate with aggressive phenotype and distinct gene expression programs.Acta neuropathologica communications · 2021Article
- Cerebrovascular Disease Progression in Patients WithNeurology · 2021Article
- Characteristics of Fall-Related Fractures in Older Adults with Cerebrovascular Disease: A Cross-Sectional Study.Clinical interventions in aging · 2021Article
- Actin R256 Mono-methylation Is a Conserved Post-translational Modification Involved in Transcription.Cell reports · 2020Article
- ACTA2 leukovasculopathy: A rare pediatric white matter disorder.Radiology case reports · 2020Article
- Global activation of oncogenic pathways underlies therapy resistance in diffuse midline glioma.Acta neuropathologica communications · 2020Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionSmooth muscle cell contraction is an essential function of arteries and relies on the integrity of the actin-myosin apparatus. The tissue-specific α2-smooth muscle actin, encoded by ACTA2, is predominantly expressed in vascular smooth muscle cells. ACTA2 mutations predispose to development of aortic aneurysms and early onset coronary and cerebrovascular disease. Based on arteriographic findings, a distinct cerebrovascular disease has been proposed for ACTA2 heterozygous patients carrying the R179H mutation.
resultsWe present the first integrated analysis of a severely compromised patient with the R179H mutation and define the arterial pathology of ACTA2-related cerebrovascular disease. Histologically, striking morphological abnormalities were present in cerebral arteries of all sizes. Massive intimal smooth muscle cell proliferation, fragmentation of the elastic laminae and medial fibromuscular proliferation characterized large arteries whereas prominent vessel wall thickening, fibrosis and smooth muscle cell proliferation were unique changes in small arteries. The medial fibrosis and smooth muscle cell proliferation explain the characteristic radiologic appearance of "straight arteries" and suggest impaired function of mutant smooth muscle cells. Actin three-dimensional molecular modeling revealed critical positioning of R179 at the interface between the two strands of filamentous actin and destabilization of inter-strand bundling by the R179H mutation, explaining the severe associated phenotype.
conclusionsIn conclusion, these characteristic clinical and pathologic findings confirm ACTA2-related cerebrovascular disease as a new cerebrovascular disorder for which new therapeutic strategies need to be designed.
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