Cerebrovascular Disease Progression in Patients With <i>ACTA2</i> Arg179 Pathogenic Variants

Abstract

We found characteristic, early, and progressive cerebrovascular abnormalities in patients with <i>ACTA2</i> Arg179 pathogenic variants. Our longitudinal data suggest that while steno-occlusive disease progresses over time and is associated with arterial ischemic infarctions and cystic-like white matter lesions, white matter hyperintensities can remain stable over long periods. The evaluated metrics will enable diagnosis in early infancy and be used to monitor disease progression, guide timing of stroke preventive interventions, and assess response to current and future therapies.