10.5061/DRYAD.5X69P8D1F
Lauer, Arne
0000-0001-8906-9706
Massachusetts General Hospital
Speroni, Samantha
Massachusetts General Hospital
Patel, Jay
Massachusetts General Hospital
Regalado, Ellen
University of Texas Health Science Center
Choi, Myoung
Massachusetts General Hospital
Smith, Edward
Boston Children’s Hospital
Kalpathy-Kramer, Jayashree
Massachusetts General Hospital
Caruso, Paul
Massachusetts General Hospital
Milewicz, Dianna
0000-0002-7806-0068
University of Texas Health Science Center
Musolino, Patricia
Massachusetts General Hospital
Cerebrovascular disease progression in patients with ACTA2 Arg179
pathogenic variants supplementary materials
Dryad
dataset
2020
American Heart Association
https://ror.org/013kjyp64
NIH R01 HL109942
Temerty Family Foundation
https://ror.org/01bdta868
National Institute of Neurological Disorders and Stroke
https://ror.org/01s5ya894
K08 NS094683-01
2021-09-02T00:00:00Z
2021-09-02T00:00:00Z
en
128493 bytes
5
CC0 1.0 Universal (CC0 1.0) Public Domain Dedication
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.