{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T21:42:48Z","timestamp":1785015768098,"version":"3.55.0"},"reference-count":0,"publisher":"S. Karger AG","issue":"3-4","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cerebrovasc Dis"],"published-print":{"date-parts":[[2018]]},"abstract":"<b><i>Background:<\/i><\/b> Missense mutations in the gene that codes for smooth muscle actin, <i>ACTA2<\/i>, cause diffuse smooth muscle dysfunction and a distinct cerebral arteriopathy collectively known as multisystemic smooth muscle dysfunction syndrome (MSMDS). Until recently, <i>ACTA2<\/i> cerebral arteriopathy was considered to be a variant of moyamoya disease. However, recent basic science and clinical data have demonstrated that the cerebral arteriopathy caused by mutant <i>ACTA2<\/i> exhibits genetic loci, histopathology, neurological sequelae, and radiographic findings unique from moyamoya disease. We conducted a literature review to provide insight into the history, clinical significance, and neurosurgical management of this recently described novel cerebral arteriopathy. <b><i>Summary:<\/i><\/b> We performed a literature search using PubMed with the key words \u201cACTA2 mutation,\u201d \u201cACTA2 cerebral arteriopathy,\u201d and \u201cmultisystemic smooth muscle dysfunction syndrome.\u201d Case reports with confirmed <i>ACTA2<\/i> mutations and cerebral arteriopathy were included in our review. Our literature search revealed 15 articles (58 cases) of confirmed <i>ACTA2<\/i> cerebral arteriopathy. Distinctive features of this arteriopathy included an aberrant internal carotid circulation with dilatation of the proximal segments, occlusive disease at the distal segments, and dolichoectasia. As such, mutant <i>ACTA2<\/i> predisposed patients to ischemic strokes as children. Direct and indirect cerebral revascularization procedures are the mainstay treatment options with varying degrees of success. <b><i>Key Messages:<\/i><\/b> <i>ACTA2<\/i> cerebral arteriopathy is a recently described novel cerebrovascular disease seen in patients with MSMDS. Patients currently diagnosed with moyamoya disease who also have dysfunction of smooth muscle organs may benefit from reevaluation by a medical geneticist and <i>ACTA2<\/i> genotyping.<\/jats:p>","DOI":"10.1159\/000493863","type":"journal-article","created":{"date-parts":[[2018,10,9]],"date-time":"2018-10-09T21:03:23Z","timestamp":1539119003000},"page":"159-169","source":"Crossref","is-referenced-by-count":35,"title":["<b><i>ACTA2<\/i><\/b> Cerebral Arteriopathy: Not Just a Puff of Smoke"],"prefix":"10.1159","volume":"46","author":[{"given":"Joshua\u00a0A.","family":"Cuoco","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher\u00a0M.","family":"Busch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan\u00a0J.","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael\u00a0J.","family":"Benko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Stein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew\u00a0D.","family":"Nicholson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric\u00a0A.","family":"Marvin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2018,10,9]]},"container-title":["Cerebrovascular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/493863","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/493863","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:57:38Z","timestamp":1745427458000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000493863"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":0,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2018,11,23]]},"published-print":{"date-parts":[[2018,11,29]]}},"URL":"https:\/\/doi.org\/10.1159\/000493863","archive":["Portico"],"relation":{},"ISSN":["1015-9770","1421-9786"],"issn-type":[{"value":"1015-9770","type":"print"},{"value":"1421-9786","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}