Additional Resources:

Research Publications

Alajbegovic, A., Holmberg, J., & Albinsson, S. (2017). Molecular Regulation of Arterial Aneurysms: Role of Actin Dynamics and microRNAs in Vascular Smooth Muscle. Frontiers in Physiology,8. doi:10.3389/fphys.2017.00569
https://www.frontiersin.org/articles/10.3389/fphys.2017.00569/full

Amans MR, Stout C, Fox C, Narvid J, Hetts SW, Cooke DL, Higashida RT, Dowd CF, McSwain H, Halbach VV: Cerebral arteriopathy associated with Arg179His ACTA2 mutation. BMJ Case Rep 2013;bcr2013010997.

Brodsky, M. C., Turan, K. E., Khanna, C. L., Patton, A., & Kirmani, S. (2014). Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. Journal of American Association for Pediatric Ophthalmology and Strabismus,18(4), 393-395. doi:10.1016/j.jaapos.2014.02.010
https://www.ncbi.nlm.nih.gov/pubmed/24998021

Cuoco, J., Busch, C., Klein, B., Benko, M., Stein, R., Nicholson, A., & Marvin, E. (2018). ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke. Cerebrovascular Diseases,46(3-4), 159-169. doi:10.1159/000493863
https://www.karger.com/Article/FullText/493863

De Grazia J, Delgado I, Sanchez-Montanez A, Boronat S, Del Campo M, Vazquez E: Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: report in 2 newborn siblings. Brain Dev 2017; 39: 62–66.

F. D'Arco, C.A. Alves, C. Raybaud, W.K.K. Chong, G.E. Ishak, S. Ramji, M. Grima, A.J. Barkovich, V.Ganesan. Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations. American Journal of Neuroradiology Sep 2018, DOI: 10.3174/ajnr.A5823
http://www.ajnr.org/content/early/2018/09/27/ajnr.A5823

Georgescu, M., Pinho, M. D., Richardson, T. E., Torrealba, J., Buja, L. M., Milewicz, D. M., . . . Burns, D. K. (2015). The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease. Acta Neuropathologica Communications,3(81). doi:10.1186/s40478-015-0262-7
https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-015-0262-7

Kantamneni T, Mondok LJ, Friedman N: Outcome of revascularization in patients with ACTA2 cerebral vasculopathy. Neurology 2017; 88(16 suppl).
 

Khan N, Schinzel A, Shuknecht B, Baumann F, Ostergaard JR, Yonekawa Y: Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? Eur Neurol 2004; 51: 72–77.

Logeswaran T, Friedburg C, Hofmann K, Akintuerk H, Biskup S, Graef M, Rad A, Weber A, Neubauer BA, Schranz D, Bouvagnet P, Lorenz B, Hahn A: Two patients with the heterozygous R189H mutation in ACTA2 and complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. Am J Med Genet A 2016; 173: 959–965.

Lu H, Fagnant PM, Krementsova EB, Trybus KM: Severe molecular defects exhibited by the R179H mutation in human vascular smooth muscle α-actin. J Biol Chem 2016; 291: 21729–21739.
http://www.jbc.org/content/291/41/21729.full.pdf

Meuwissen, M. E., Lequin, M. H., Heus, K. B., Bruggenwirth, H. T., Knapen, M. F., Dalinghaus, M., . . . Mancini, G. M. (2013). ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. American Journal of Medical Genetics Part A,161(6), 1376-1380. doi:10.1002/ajmg.a.35858

https://repub.eur.nl/pub/40154

Milewicz DM, Ostergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Ades L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES: De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 2010; 152A: 2437–2443

https://www.ncbi.nlm.nih.gov/pubmed/20734336

Moller HU, Fledelius HC, Milemicz DM, Regalado ES, Ostergaard JR: Eye features in 3 Danish patients with multisystemic smooth muscle dysfunction syndrome. Br J Ophthalmol 2012; 96: 1227–1231.

Moosa, A. N., Traboulsi, E. I., Reid, J., Prieto, L., Moran, R., & Friedman, N. R. (2012). Neonatal Stroke and Progressive Leukoencephalopathy in a Child With an ACTA2 Mutation. Journal of Child Neurology,28(4), 531-534. doi:10.1177/0883073812446631

https://cwru.pure.elsevier.com/en/publications/neonatal-stroke-and-progressive-leukoencephalopathy-in-a-child-wi-2

Moreno, C. A., Metze, K., Lomazi, E. A., Bertola, D. R., Barbosa, R. H., Cosentino, V., Sobreira, N., … Cavalcanti, D. P. (2016). Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. American journal of medical genetics. Part A, 170(11), 2965-2974.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590821/

Munot P, Saunders DE, Milewicz DM, Regalado ES, Ostergaard JR, Braun KP, Kerr T, Lichtenbelt KD, Philip S, Rittey C, Jacques TS, Cox TC, Ganesan V: A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain 2012; 135: 2506–2514.

https://academic.oup.com/brain/article/135/8/2506/306588

Prabhu, S., Fox, S., Mattke, A., Armes, J. E., & Alphonso, N. (2017). Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome. World Journal for Pediatric and Congenital Heart Surgery, 8(6), 750–753.

https://doi.org/10.1177/2150135116658457 

https://journals.sagepub.com/doi/abs/10.1177/2150135116658457#articleCitationDownloadContainer

Regalado, E. S., Mellor-Crummey, L., Backer, J. D., Braverman, A. C., Ades, L., Benedict, S., . . . Milewicz, D. M. (2018). Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. Genetics in Medicine,20(10), 1206-1215. doi:10.1038/gim.2017.245

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6034999/pdf/nihms923952.pdf

Richer, J., Milewicz, D., Gow, R., Nanassy, J. D., Maharajh, G., Miller, E., . . . Oconnor, M. (2012). R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. American Journal of Medical Genetics Part A,158A(3), 664-668. doi:10.1002/ajmg.a.35206

https://www.researchgate.net/publication/221803468_R179H_mutation_in_ACTA2_expanding_the_phenotype_to_include_prune-belly_sequence_and_skin_manifestations

Roulez, F. M., Faes, F., Delbeke, P., Bogaert, P. V., Rodesch, G., Zaeytijd, J. D., . . . Meire, F. M. (2014). Congenital Fixed Dilated Pupils Due to ACTA2– Multisystemic Smooth Muscle Dysfunction Syndrome. Journal of Neuro-Ophthalmology,34(2), 137-143. doi:10.1097/wno.0000000000000090

https://journals.lww.com/jneuro-ophthalmology/Fulltext/2014/06000/Congenital_Fixed_Dilated_Pupils_Due_to_ACTA2_.6.aspx

Rutledge WC, Choudhri O, Walcott BP, Benet A, Fox CK, Gupta N, Lawton MT: Indirect and direct revascularization of ACTA2 cerebral arteriopathy: feasibility of the superficial temporal artery to anterior cerebral artery bypass with posterior auricular artery interposition graft: case report. J Neurosurg Pediatr 2016; 18: 339–343.

Taubenslag KJ, Scanga HL, Huey J, et al. Iris anomalies and the incidence of ACTA2 mutation. British Journal of Ophthalmology. Published Online First: 06 June 2018. doi: 10.1136/bjophthalmol-2018-312306

https://bjo.bmj.com/content/early/2018/06/06/bjophthalmol-2018-312306

Ware, S. M., Shikany, A., Landis, B. J., James, J. F., & Hinton, R. B. (2014). Twins With Progressive Thoracic Aortic Aneurysm, Recurrent Dissection and ACTA2 Mutation. Pediatrics,134(4). doi:10.1542/peds.2013-2503

http://pediatrics.aappublications.org/content/pediatrics/134/4/e1218.full.pdf

Yetman, A. T., Starr, L. J., Bleyl, S. B., Meyers, L., & Delaney, J. W. (2015). Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. Pediatrics,136(1). doi:10.1542/peds.2014-3032

http://pediatrics.aappublications.org/content/136/1/e262

Yeung HH: Large pupils in infancy. Suspected aniridia. Multisystemic smooth muscle dysfunction syndrome secondary to an ACTA2 mutation. J Pediatr Ophthalmol Strabismus 2016; 53: 7–8.