{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:36:44Z","timestamp":1790865404105,"version":"4.1.0"},"reference-count":86,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["FOC"],"published-print":{"date-parts":[[2011,6]]},"abstract":"<jats:sec>\n                    <jats:title>Object<\/jats:title>\n                    <jats:p>\n                      Moyamoya disease (MMD) is a rare cerebrovascular disorder involving stenosis of the major vessels of the circle of Willis and proximal portions of its principal branches. Despite concerted investigation, the pathophysiology of the disorder has not been fully elucidated. Currently, the major proteins believed to play an active role in the pathogenesis include vascular endothelial growth factor (VEGF), basic fibroblast growth factor (bFGF), hepatocyte growth factor (HGF), transforming growth factor\u2013\u03b2\n                      <jats:sub>1<\/jats:sub>\n                      (TGF\u03b2\n                      <jats:sub>1<\/jats:sub>\n                      ), and granulocyte colony-stimulating factor (G-CSF). In terms of the genetics, recent literature suggests a low penetrance autosomal dominant or polygenic mode of transmission involving chromosomes 3, 6, 8, 12, and 17 for familial MMD. This review summarizes the current knowledge on the histopathology, pathophysiology and genetics of MMD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A PubMed\/Medline systematic study of the literature was performed, from which 45 articles regarding MMD pathophysiology were identified and analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Moyamoya disease is characterized by the intimal thickening and media attenuation of the proximal vessels of the circle of Willis as well as the development of an aberrant distal vascular network. The primary proteins that are currently implicated in the pathophysiology of MMD include VEGF, bFGF, HGF, TGF\u03b2\n                      <jats:sub>1<\/jats:sub>\n                      , and G-CSF. Furthermore, the current literature on familial MMD has pointed to a low penetrance autosomal dominant or polygenic mode of transmittance at loci on chromosomes 3, 6, 8, 12, and 17.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/2011.3.focus1151","type":"journal-article","created":{"date-parts":[[2011,6,1]],"date-time":"2011-06-01T10:16:04Z","timestamp":1306923364000},"page":"E20","source":"Crossref","is-referenced-by-count":82,"title":["Moyamoya disease: a review of histopathology, biochemistry, and genetics"],"prefix":"10.3171","volume":"30","author":[{"given":"David G.","family":"Weinberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar M.","family":"Arnaout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudy J.","family":"Rahme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salah G.","family":"Aoun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. 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