Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants.

Neurology - 26 Jan 2021

Lauer Arne, Speroni Samantha L, Patel Jay B, Regalado Ellen, Choi Myoung, Smith Edward, Kalpathy-Kramer Jayashree, Caruso Paul, Milewicz Dianna M, Musolino Patricia L

Abstract excerpt

OBJECTIVE: To establish progression of imaging biomarkers of stroke, arterial steno-occlusive disease, and white matter injury in patients with smooth muscle dysfunction syndrome caused by mutations in the ACTA2 gene, we analyzed 113 cerebral MRI scans from a retrospective cohort of 27 patients with ACTA2 Arg179 pathogenic variants. METHODS: Systematic quantifications of arterial ischemic strokes and white matter...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Actins
Share to Arginine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebrovascular Disorders

Share to Cohort Studies

Share to Disease Progression

Share to Infant

Share to Longitudinal Studies

Share to Magnetic Resonance Imaging

Source

Open in PubMed Open full text

Identifiers

PMID: 33199432
DOI: 10.1212/WNL.0000000000011210
PMCID: PMC7905785

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants.PMID 33199432Read ↗

The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.Semantic proximity Read ↗

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.Semantic proximity Read ↗

Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.Semantic proximity Read ↗

Cerebral arteriopathy associated with Arg179His ACTA2 mutation.Semantic proximity Read ↗

Cerebral arteriopathy associated with Arg179His ACTA2 mutation.Semantic proximity Read ↗

Pathology-based brain arterial disease phenotypes and their radiographic correlates.Semantic proximity Read ↗

Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.Semantic proximity Read ↗

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.Semantic proximity Read ↗

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.Semantic proximity Read ↗

Redistribution of Mature Smooth Muscle Markers in Brain Arteries in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and LeukoencephalopathySemantic proximity Read ↗

Increased plasma fibronectin mirrors intimal phenotypic switching of vascular smooth muscle cells in moyamoya arteriopathySemantic proximity Read ↗

Association of Ischemic Imaging Phenotype With Progression of Brain Atrophy and Cerebrovascular Lesions on MRI: The SMART-MR Study.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.