{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T23:23:58Z","timestamp":1790033038651,"version":"4.0.1"},"reference-count":28,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2017,8,16]],"date-time":"2017-08-16T00:00:00Z","timestamp":1502841600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Interv Neuroradiol"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:p>A novel hypothesis proposes that \u201ccardio-cephalic neural crest (NC) syndrome,\u201d i.e. cephalic NC including cardiac NC, contributes to the concurrent occurrence of vascular diseases in the cardio- and cerebrovascular regions. NC is a transient structure present in early embryogenesis. Cephalic NC provides mesenchymal cells to the vascular media in these regions. Concurrent cardio- and cerebrovascular lesions have been reported in PHACE syndrome, ACTA2 mutation syndrome, and less frequently in the spontaneous occlusion of the circle of Willis (so-called moyamoya disease). Cardiovascular lesions in these syndromes include coarctation of the aorta, persistent truncus arteriosus, patent ductus arteriosus, and coronary artery disease, and cerebrovascular lesions include agenesis and stenosis\/occlusion of the internal carotid arteries, and moyamoya phenomenon. These concurrent vascular lesions both in the cardio- and cerebrovascular regions might be related to cephalic NC. This hypothesis, although not proven, may facilitate a better understanding of the above-mentioned NC-related vascular pathologies and lead to appropriate diagnostic and therapeutic approaches for clinicians and chart future direction for researchers.<\/jats:p>","DOI":"10.1177\/1591019917726093","type":"journal-article","created":{"date-parts":[[2017,8,17]],"date-time":"2017-08-17T02:33:08Z","timestamp":1502937188000},"page":"572-576","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":24,"title":["Cardio-cephalic neural crest syndrome: A novel hypothesis of vascular neurocristopathy"],"prefix":"10.1177","volume":"23","author":[{"given":"M","family":"Komiyama","sequence":"first","affiliation":[{"name":"Department of Neuro-Intervention, Osaka City General Hospital, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2017,8,16]]},"reference":[{"key":"bibr1-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1996.03890270083012"},{"key":"bibr2-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-0082"},{"key":"bibr3-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1159\/000076248"},{"key":"bibr4-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33657"},{"key":"bibr5-1591019917726093","first-page":"577","volume":"3","author":"Baltaxe HA","year":"1982","journal-title":"AJN Am J Roentgenol"},{"key":"bibr6-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1542\/peds.101.1.57"},{"key":"bibr7-1591019917726093","doi-asserted-by":"publisher","DOI":"10.2176\/nmc.41.37"},{"key":"bibr8-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-017-3369-2"},{"key":"bibr9-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1126\/science.220.4594.268"},{"key":"bibr10-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9780511897948"},{"key":"bibr11-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.7.1059"},{"key":"bibr12-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198703000-00001"},{"key":"bibr13-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms2258"},{"key":"bibr14-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1177\/159101990300900105"},{"key":"bibr15-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1126\/science.6844926"},{"key":"bibr16-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(74)80021-3"},{"key":"bibr17-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1080\/15513819709168343"},{"key":"bibr18-1591019917726093","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2206"},{"key":"bibr19-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.007"},{"key":"bibr20-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1016\/j.nic.2007.02.006"},{"key":"bibr21-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.132"},{"key":"bibr22-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0022542"},{"key":"bibr23-1591019917726093","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2015.30.4.470"},{"key":"bibr24-1591019917726093","first-page":"85","volume":"24","author":"Hosoda Y","year":"1976","journal-title":"Folia Angiologica"},{"key":"bibr25-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2013.08.025"},{"key":"bibr26-1591019917726093","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0175649"},{"key":"bibr27-1591019917726093","doi-asserted-by":"crossref","unstructured":"Schilter KF, Steiner JE, Demos W, et\u00a0al.\n                      RNF213\n                      variants in a child with PHACE syndrome and moyamoya vasculopathy.\n                      Am J Med Genet A.\n                      Epub ahead of print 7 July 2017. 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