Cerebrovascular disease progression in patients with ACTA2 Arg179 pathogenic variants supplementary materials
Lauer, Arne et al. (2021), Cerebrovascular disease progression in patients with ACTA2 Arg179 pathogenic variants supplementary materials, Dryad, Dataset, https://doi.org/10.5061/dryad.5x69p8d1f
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 collected on various scanner setups. To eliminate potential bias related to improving imaging technology we re-analyzed imaging markers for those patients with available longitudinal imaging on an identical scanner setups and present the data in supplementary table e-1. Supplementary table e-2 shows results of a comparison of imaging markers between male and female sex.
American Heart Association, Award: NIH R01 HL109942
Temerty Family Foundation
National Institute of Neurological Disorders and Stroke, Award: K08 NS094683-01