Cerebrovascular disease progression in patients with ACTA2 Arg179 pathogenic variants supplementary materials

Arne Lauer, Samantha Speroni, Jay Patel, Ellen Regalado, Myoung Choi, Edward Smith, Jayashree Kalpathy-Kramer, Paul Caruso, Dianna Milewicz & Patricia Musolino
Our study entitled “Cerebrovascular disease progression in patients with ACTA2 Arg179 Pathogenic Variants” examines 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 (ACTA2 Arg179 pathogenic variants). We found characteristic patterns of acute white matter ischemic injury and progressive internal carotid artery stenosis on MRI. Longitudinal analysis showed both stable and progressive lesion entities. The data was...
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