Αποτελέσματα Αναζήτησης
27 Σεπ 2018 · We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed.
- ACTA2-related Cerebrovascular Disease - American Journal of Neuroradiology
The diagnosis of ARCD is highly suggested by these...
- ACTA2-related Cerebrovascular Disease - American Journal of Neuroradiology
The diagnosis of ARCD is highly suggested by these characteristic imaging findings, with confirmation achieved through genetic testing. Differential Diagnoses: ARCD was previously considered a variant of Moyamoya disease but is now classified as a novel, separate cerebrovascular disorder.
10 Μαρ 2015 · Early diagnosis of mutation carriers and proper management, including aortic surveillance, blood pressure management, and timely surgical repair of ascending aortic aneurysms, may help reduce the risk of aortic complications and death associated with ACTA2 mutations.
21 Νοε 2019 · The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD).
ACTA2 mutations can have characteristic cerebrovascular findings, allowing the neuroradiologist to suggest a specific genetic diagnosis based on imaging findings alone.
We present a family with an ACTA 2 variant as a model of vascular neurocristopathy, demonstrating how a diuse genetic disorder predominantly expresses phenotypically in
4 Δεκ 2017 · Mutations in ACTA2 are the most common genetic cause of thoracic aortic aneurysm, and are also the cause of other disorders, including Moyamoya disease, coronary artery disease and stroke as well as Multisystemic Smooth Muscle Dysfunction Syndrome.
