Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations.
Felice D'ArcoCésar Augusto Pinheiro Ferreira AlvesC RaybaudW K Kling ChongG E IshakS RamjiM GrimaAnthony J BarkovichVijeya GanesanPublished in: AJNR. American journal of neuroradiology (2018)
Because α-actin is not expressed in the brain parenchyma, only in vascular tissue, we speculate that rather than a true malformative process, these findings represent a deformation of the brain during development related to the mechanical interaction with rigid arteries during the embryogenesis.