{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:01:37Z","timestamp":1791295297029,"version":"4.1.0"},"reference-count":166,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["FOC"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:p>Moyamoya disease is an uncommon cerebrovascular condition characterized by progressive stenosis of the bilateral internal carotid arteries with compensatory formation of an abnormal network of perforating blood vessels providing collateral circulation.<\/jats:p>\n                  <jats:p>The etiology and pathogenesis of moyamoya disease remain unclear. Evidence from histological studies, proteomics, and endothelial progenitor cell analyses suggests new theories underlying the cause of vascular anomalies, including moyamoya disease.<\/jats:p>\n                  <jats:p>Familial moyamoya disease has been noted in as many as 15% of patients, indicating an autosomal dominant inheritance pattern with incomplete penetrance. Genetic analyses in familial moyamoya disease and genome-wide association studies represent promising strategies for elucidating the pathophysiology of this condition.<\/jats:p>\n                  <jats:p>In this review, the authors discuss recent studies that have investigated possible mechanisms underlying the etiology of moyamoya disease, including stem cell involvement and genetic factors. They also discuss future research directions that promise not only to offer new insights into the origin of moyamoya disease but to enhance our understanding of new vessel formation in the CNS as it relates to stroke, vascular anomalies, and tumor growth.<\/jats:p>","DOI":"10.3171\/2009.1.focus08302","type":"journal-article","created":{"date-parts":[[2009,3,31]],"date-time":"2009-03-31T12:12:42Z","timestamp":1238501562000},"page":"E4","source":"Crossref","is-referenced-by-count":112,"title":["Pathophysiology and genetic factors in moyamoya disease"],"prefix":"10.3171","volume":"26","author":[{"given":"Achal S.","family":"Achrol","sequence":"first","affiliation":[{"name":"Departments of Neurosurgery and Stanford Stroke Center, Stanford University School of Medicine, Stanford, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael","family":"Guzman","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery and Stanford Stroke Center, Stanford University School of Medicine, Stanford, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Lee","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery and Stanford Stroke Center, Stanford University School of Medicine, Stanford, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary K.","family":"Steinberg","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery and Stanford Stroke Center, Stanford University School of Medicine, Stanford, California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"key":"b1-0260004","series-title":"Surg Neurol","first-page":"468","article-title":"Arteriovenous malformation associated with moyamoya disease: case report","volume":"41","author":"Akiyama","year":"1994"},{"key":"b2-0260004","series-title":"Science","first-page":"964","article-title":"Isolation of putative progenitor endothelial cells for angiogenesis","volume":"275","author":"Asahara","year":"1997"},{"key":"b3-0260004","series-title":"J Neurol Neurosurg Psychiatry","first-page":"900","article-title":"Novel epidemiological features of moyamoya disease","volume":"79","author":"Baba","year":"2008"},{"key":"b4-0260004","series-title":"Nat Genet","first-page":"1472","article-title":"Susceptibility loci for intracranial aneurysm in European and Japanese populations","volume":"40","author":"Bilguvar","year":"2008"},{"key":"b5-0260004","series-title":"Transplant Proc","first-page":"19","article-title":"Cardiac transplant atherosclerosis","volume":"19","author":"Billingham","year":"1987"},{"key":"b6-0260004","series-title":"Trends Cardiovasc Med","first-page":"57","article-title":"Homing to hypoxia: HIF-1 as a mediator of progenitor cell recruitment to injured tissue","volume":"15","author":"Ceradini","year":"2005"},{"key":"b7-0260004","series-title":"Nat Med","first-page":"858","article-title":"Progenitor cell trafficking is regulated by hypoxic gradients through HIF-1 induction of SDF-1","volume":"10","author":"Ceradini","year":"2004"},{"key":"b8-0260004","series-title":"Front Biosci","first-page":"3121","article-title":"MMP-9 expression is associated with leukocytic but not endothelial markers in brain arteriovenous malformations","volume":"11","author":"Chen","year":"2006"},{"key":"b9-0260004","series-title":"Ann Neurol","first-page":"72","article-title":"Interleukin-6 involvement in brain arteriovenous malformations","volume":"59","author":"Chen","year":"2006"},{"key":"b10-0260004","series-title":"Surg Neurol","first-page":"89","article-title":"Giant arteriovenous malformation associated with unilateral moyamoya disease in a child: case report","volume":"67","author":"Chen","year":"2007"},{"key":"b11-0260004","series-title":"Nat Protocols","first-page":"805","article-title":"A protocol for phenotypic detection and enumeration of circulating endothelial cells and circulating progenitor cells in human 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