ACTA2 mutation occurs in the alpha-actin gene. Since the gene product is not expressed in brain parenchyma but is a contractile protein of smooth muscle cells that make up vascular walls, structural brain findings in this disorder are postulated to be the result of mass effect from abnormal rigid arteries during development. Presented here are typical imaging findings of ACTA2 mutation to emphasize the radiologist's role in diagnosing this disease prospectively. Read More

Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020

Authors: Xie Sophia, Veltkamp Daniel, Pfeifer Cory

Keywords: ACTA2 mutation, cerebrovascular disease