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Characteristic Cerebrovascular Findings Associated with ACTA2 Gene Mutations

  • Andrew Zhang (a1), Alexandria Jo (a1), Karen Grajewski (a1) and John Kim (a1)


A specific mutation (Arg179) of the ACTA2 gene has previously been described to cause a syndrome of multisystemic smooth muscle dysfunction with an extremely characteristic cerebrovascular appearance.1 Accurate neuroimaging diagnosis of this entity is important as this syndrome predisposes to complications such as early-onset ischemic stroke and ascending thoracic aortic aneurysm.2,3 The following case demonstrates a previously undescribed ACTA2 mutation (Met46) with an identical cerebrovascular imaging appearance to that of Arg179 mutations, but a less severe overall phenotype.


Corresponding author

Correspondence to: Andrew Zhang, Department of Radiology, University of Michigan, 1500 East Medical Center Drive TC2910L, Ann Arbor, Michigan 48109-0326, USA. Email:


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1.Munot, P, Saunders, DE, Milewicz, DM, et al. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain. 2012;135(Pt 8):2506–14.10.1093/brain/aws172
2.Guo, DC, Papke, CL, Tran-Fadulu, V, et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009;84:617–27.10.1016/j.ajhg.2009.04.007
3.Milewicz, DM, Ostergaard, JR, Ala-Kokko, LM, et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A. 2010;152A:2437–43.10.1002/ajmg.a.33657
4.Richards, S, Aziz, N, Bale, S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and genomics and the association for molecular pathology. Genet Med. 2015;5:405–24.
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Canadian Journal of Neurological Sciences
  • ISSN: 0317-1671
  • EISSN: 2057-0155
  • URL: /core/journals/canadian-journal-of-neurological-sciences
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