Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases

References

• Scott RM, Smith ER. Moyamoya disease and moyamoya syndrome. N Engl J Med. 2009;360(12):1226–1237. doi:10.1056/NEJMra0804622
   PubMed Web of Science ®Google Scholar
• Smith ER. Moyamoya Biomarkers. J Korean Neurosurg Soc. 2015;57(6):415–421.
   Web of Science ®Google Scholar
• Roach ES, Golomb MR, Adams R, et al. Management of stroke in infants and children: a scientific statement from a Special Writing Group of the American Heart Association Stroke Council and the Council on Cardiovascular Disease in the Young. Stroke. 2008;39(9):2644–2691.
   PubMed Web of Science ®Google Scholar
• Guey S, Tournier-Lasserve E, Herve D, Kossorotoff M. Moyamoya disease and syndromes: from genetics to clinical management. Appl Clin Genet. 2015;8:49–68.
   PubMedGoogle Scholar
• Bedini G, Blecharz KG, Nava S, et al. Vasculogenic and angiogenic pathways in moyamoya disease. Curr Med Chem. 2016;23(4):315–345.
   Web of Science ®Google Scholar
• Park YS. Single nucleotide polymorphism in patients with moyamoya disease. J Korean Neurosurg Soc. 2015;57(6):422–427.
   Web of Science ®Google Scholar
• Kuroda S, Houkin K. Moyamoya disease: current concepts and future perspectives. Lancet Neurol. 2008;7(11):1056–1066.
   PubMed Web of Science ®Google Scholar
• Scott RM, Smith JL, Robertson RL, Madsen JR, Soriano SG, Rockoff MA. Long-term outcome in children with moyamoya syndrome after cranial revascularization by pial synangiosis. J Neurosurg. 2004;100(2Suppl Pediatrics):142–149.
   Google Scholar
• Hishikawa T, Sugiu K, Date I. Moyamoyadisease: a review of clinical research. Acta Med Okayama. 2016;70(4):229–236.
   Web of Science ®Google Scholar
• Hishikawa T, Tokunaga K, Sugiu K, Date I. Clinical and radiographic features of moyamoya disease in patients with both cerebral ischaemia and haemorrhage. Br J Neurosurg. 2013;27(2):198–201. doi:10.3109/02688697.2012.717983
   Web of Science ®Google Scholar
• Kang S, Liu X, Zhang D, et al. Natural course of moyamoya disease in patients with prior hemorrhagic stroke. Stroke. 2019;50(5):1060–1066.
   Web of Science ®Google Scholar
• Okada Y, Kawamata T, Kawashima A, Yamaguchi K, Ono Y, Hori T. The efficacy of superficial temporal artery-middle cerebral artery anastomosis in patients with moyamoya disease complaining of severe headache. J Neurosurg. 2012;116(3):672–679.
   Web of Science ®Google Scholar
• Takeuchi K, Shimizu K. Hypoplasia of the bilateral internal carotid arteries. Brain Nerve. 1957;9:37–43.
   Google Scholar
• Suzuki J, Takaku A. Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol. 1969;20(3):288–299.
   PubMedGoogle Scholar
• Fujimura M, Sonobe S, Nishijima Y, et al. Genetics and biomarkers of moyamoya disease: significance of RNF213 as a susceptibility gene. J Stroke. 2014;16(2):65–72.
   PubMed Web of Science ®Google Scholar
• Bang OY, Fujimura M, Kim SK. The pathophysiology of moyamoya disease: an update. J Stroke. 2016;18(1):12–20.
   PubMed Web of Science ®Google Scholar
• Roder C, Peters V, Kasuya H, et al. Common genetic polymorphisms in moyamoya and atherosclerotic disease in Europeans. Childs Nerv Syst. 2011;27(2):245–252.
   Web of Science ®Google Scholar
• Lin R, Xie Z, Zhang J, et al. Clinical and immunopathological features of moyamoya disease. PLoS One. 2012;7(4):e36386.
   Web of Science ®Google Scholar
• Milewicz DM, Kwartler CS, Papke CL, Regalado ES, Cao J, Reid AJ. Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy. Genet Med. 2010;12(4):196–203.
   Web of Science ®Google Scholar
• Kang HS, Kim JH, Phi JH, et al. Plasma matrix metalloproteinases, cytokines and angiogenic factors in moyamoya disease. J Neurol Neurosurg Psychiatry. 2010;81(6):673–678.
   Web of Science ®Google Scholar
• Sigdel TK, Shoemaker LD, Chen R, et al. Immune response profiling identifies autoantibodies specific to moyamoya patients. Orphanet J Rare Dis. 2013;8:45.
   Web of Science ®Google Scholar
• Tseng HC, Kao HW, Ho MR, et al. Cytoskeleton network and cellular migration modulated by nuclear-localized receptor tyrosine kinase ROR1. Anticancer Res. 2011;31(12):4239–4249.
   Web of Science ®Google Scholar
• Harada M, Miyoshi H, Uno M, et al. Neuronal impairment of adult moyamoya disease detected by quantified proton MRS and comparison with cerebral perfusion by SPECT with tc-99m HM-PAO: a trial of clinical quantification of metabolites. J Magn Reson Imaging. 1999;10(2):124–129.
   Web of Science ®Google Scholar
• Milam KE, Parikh SM. The angiopoietin-Tie2 signaling axis in the vascular leakage of systemic inflammation. Tissue Barriers. 2015;3(1–2):e957508.
   Google Scholar
• Kamath BM, Bauer RC, Loomes KM, et al. NOTCH2 mutations in Alagille syndrome. J Med Genet. 2012;49(2):138–144.
   Web of Science ®Google Scholar
• Oda T, Elkahloun AG, Pike BL, et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet. 1997;16(3):235–242.
   Web of Science ®Google Scholar
• Li L, Krantz ID, Deng Y, et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet. 1997;16(3):243–251.
   Web of Science ®Google Scholar
• Connor SE, Hewes D, Ball C, Jarosz JM. Alagille syndrome associated with angiographic moyamoya. Childs Nerv Syst. 2002;18(3–4):186–190.
   Web of Science ®Google Scholar
• Emerick KM, Krantz ID, Kamath BM, et al. Intracranial vascular abnormalities in patients with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2005;41(1):99–107.
   Web of Science ®Google Scholar
• Gaba RC, Shah RP, Muskovitz AA, Guzman G, Michals EA. Synchronous moyamoya syndrome and ruptured cerebral aneurysm in Alagille syndrome. J Clin Neurosci. 2008;15(12):1395–1398.
   Web of Science ®Google Scholar
• Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation. 2004;109(11):1354–1358.
   Web of Science ®Google Scholar
• Rocha R, Soro I, Leitao A, Silva ML, Leao M. Moyamoya vascular pattern in Alagille syndrome. Pediatr Neurol. 2012;47(2):125–128.
   Web of Science ®Google Scholar
• Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2012;20(3):251–257.
   Web of Science ®Google Scholar
• Woolfenden AR, Albers GW, Steinberg GK, Hahn JS, Johnston DC, Farrell K. Moyamoya syndrome in children with Alagille syndrome: additional evidence of a vasculopathy. Pediatrics. 1999;103(2):505–508.
   Web of Science ®Google Scholar
• Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet. 2013;381(9863):333–342.
   PubMed Web of Science ®Google Scholar
• Shoemaker LD, Clark MJ, Patwardhan A, et al. Disease variant landscape of a large multiethnic population of moyamoya patients by exome sequencing. G3 (Bethesda). 2015;6(1):41–49.
   Google Scholar
• Duan L, Wei L, Tian Y, et al. Susceptibility loci for moyamoya disease revealed by a genome-wide association study. Stroke. 2018;49(1):11–18.
   Web of Science ®Google Scholar
• Araki Y, Yoshikawa K, Okamoto S, Sumitomo M, Maruwaka M, Wakabayashi T. Identification of novel biomarker candidates by proteomic analysis of cerebrospinal fluid from patients with moyamoya disease using SELDI-TOF-MS. BMC Neurol. 2010;10:112.
   PubMed Web of Science ®Google Scholar
• Lo EH, Dalkara T, Moskowitz MA. Mechanisms, challenges and opportunities in stroke. Nat Rev Neurosci. 2003;4(5):399–415.
   PubMed Web of Science ®Google Scholar
• Ikeda H, Sasaki T, Yoshimoto T, Fukui M, Arinami T. Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. Am J Hum Genet. 1999;64(2):533–537.
   Web of Science ®Google Scholar
• Bader HL, Systemic HT. VHL gene functions and the VHL disease. FEBS Lett. 2012;586(11):1562–1569.
   PubMed Web of Science ®Google Scholar
• Codd PJ, Scott RM, Smith ER. Seckel syndrome and moyamoya. J Neurosurg Pediatr. 2009;3(4):320–324.
   Web of Science ®Google Scholar
• Willems M, Genevieve D, Borck G, et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. 2010;47(12):797–802.
   Web of Science ®Google Scholar
• Herve D, Philippi A, Belbouab R, et al. Loss of alpha1beta1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. Am J Hum Genet. 2014;94(3):385–394.
   Web of Science ®Google Scholar
• Baffour R, Berman J, Garb JL, Rhee SW, Kaufman J, Friedmann P. Enhanced angiogenesis and growth of collaterals by in vivo administration of recombinant basic fibroblast growth factor in a rabbit model of acute lower limb ischemia: dose-response effect of basic fibroblast growth factor. J Vasc Surg. 1992;16(2):181–191.
   PubMed Web of Science ®Google Scholar
• Takagi Y, Kikuta K, Nozaki K, Hashimoto N. Histological features of middle cerebral arteries from patients treated for moyamoya disease. Neurol Med Chir (Tokyo). 2007;47(1):1–4.
   Web of Science ®Google Scholar
• Malek AM, Connors S, Robertson RL, Folkman J, Scott RM. Elevation of cerebrospinal fluid levels of basic fibroblast growth factor in moyamoya and central nervous system disorders. Pediatr Neurosurg. 1997;27(4):182–189.
   Web of Science ®Google Scholar
• Wang X, Zhang Z, Liu W, et al. Impacts and interactions of PDGFRB, MMP-3, TIMP-2, and RNF213 polymorphisms on the risk of moyamoya disease in Han Chinese human subjects. Gene. 2013;526(2):437–442.
   Web of Science ®Google Scholar
• Hidai C, Zupancic T, Penta K, et al. Cloning and characterization of developmental endothelial locus-1: an embryonic endothelial cell protein that binds the alphavbeta3 integrin receptor. Genes Dev. 1998;12(1):21–33.
   Web of Science ®Google Scholar
• Rezaee M, Penta K, Quertermous T. Del1 mediates VSMC adhesion, migration, and proliferation through interaction with integrin alpha(v)beta(3). Am J Physiol Heart Circ Physiol. 2002;282(5):H1924–H1932.
   Web of Science ®Google Scholar
• Inoue TK, Ikezaki K, Sasazuki T, Matsushima T, Fukui M. Linkage analysis of moyamoya disease on chromosome 6. J Child Neurol. 2000;15(3):179–182.
   Web of Science ®Google Scholar
• Weinberg DG, Arnaout OM, Rahme RJ, Aoun SG, Batjer HH, Bendok BR. Moyamoya disease: a review of histopathology, biochemistry, and genetics. Neurosurg Focus. 2011;30(6):E20.
   PubMed Web of Science ®Google Scholar
• Roder C, Nayak NR, Khan N, Tatagiba M, Inoue I, Krischek B. Genetics of moyamoya disease. J Hum Genet. 2010;55(11):711–716.
   Web of Science ®Google Scholar
• Young AM, Karri SK, Ogilvy CS, Zhao N. Is there a role for treating inflammation in moyamoya disease? A review of histopathology, genetics, and signaling cascades. Front Neurol. 2013;4:105.
   Web of Science ®Google Scholar
• Park YS, Jeon YJ, Kim HS, et al. The role of VEGF and KDR polymorphisms in moyamoya disease and collateral revascularization. PLoS One. 2012;7(10):e47158.
   Web of Science ®Google Scholar
• Hansen TM, Singh H, Tahir TA, Brindle NP. Effects of angiopoietins-1 and −2 on the receptor tyrosine kinase Tie2 are differentially regulated at the endothelial cell surface. Cell Signal. 2010;22(3):527–532.
   PubMed Web of Science ®Google Scholar
• Han H, Pyo CW, Yoo DS, Huh PW, Cho KS, Kim DS. Associations of moyamoya patients with HLA class I and class II alleles in the Korean population. J Korean Med Sci. 2003;18(6):876–880.
   Web of Science ®Google Scholar
• Hong SH, Wang KC, Kim SK, Cho BK, Park MH. Association of HLA-DR and -DQ genes with familial moyamoya disease in Koreans. J Korean Neurosurg Soc. 2009;46(6):558–563.
   Web of Science ®Google Scholar
• Takagi Y, Kikuta K, Nozaki K, et al. Expression of hypoxia-inducing factor-1 alpha and endoglin in intimal hyperplasia of the middle cerebral artery of patients with moyamoya disease. Neurosurgery. 2007;60(2):338–345.
   Web of Science ®Google Scholar
• Mouchtouris N, Jabbour PM, Starke RM, et al. Biology of cerebral arteriovenous malformations with a focus on inflammation. J Cereb Blood Flow Metab. 2015;35(2):167–175.
   PubMed Web of Science ®Google Scholar
• Gertz K, Kronenberg G, Kalin RE, et al. Essential role of interleukin-6 in post-stroke angiogenesis. Brain. 2012;135(Pt 6):1964–1980.
   PubMed Web of Science ®Google Scholar
• Hoffmann CJ, Harms U, Rex A, et al. Vascular signal transducer and activator of transcription-3 promotes angiogenesis and neuroplasticity long-term after stroke. Circulation. 2015;131(20):1772–1782.
   Web of Science ®Google Scholar
• Yamamoto M, Aoyagi M, Fukai N, Matsushima Y, Yamamoto K. Differences in cellular responses to mitogens in arterial smooth muscle cells derived from patients with moyamoya disease. Stroke. 1998;29(6):1188–1193.
   Web of Science ®Google Scholar
• Blecharz-Lang KG, Wagner J, Fries A, et al. Interleukin 6-mediated endothelial barrier disturbances can be attenuated by blockade of the IL6 receptor expressed in brain microvascular endothelial cells. Transl Stroke Res. 2018;9(6):631–642.
   PubMed Web of Science ®Google Scholar
• Pena-Silva RA, Chalouhi N, Wegman-Points L, et al. Novel role for endogenous hepatocyte growth factor in the pathogenesis of intracranial aneurysms. Hypertension. 2015;65(3):587–593.
   Web of Science ®Google Scholar
• Nakamura T, Mizuno S. The discovery of hepatocyte growth factor (HGF) and its significance for cell biology, life sciences and clinical medicine. Proc Jpn Acad Ser B Phys Biol Sci. 2010;86(6):588–610.
   PubMed Web of Science ®Google Scholar
• Nanba R, Kuroda S, Ishikawa T, Houkin K, Iwasaki Y. Increased expression of hepatocyte growth factor in cerebrospinal fluid and intracranial artery in moyamoya disease. Stroke. 2004;35(12):2837–2842.
   Web of Science ®Google Scholar
• Sakurai K, Horiuchi Y, Ikeda H, et al. A novel susceptibility locus for moyamoya disease on chromosome 8q23. J Hum Genet. 2004;49(5):278–281.
   Web of Science ®Google Scholar
• Felcht M, Luck R, Schering A, et al. Angiopoietin-2 differentially regulates angiogenesis through TIE2 and integrin signaling. J Clin Invest. 2012;122(6):1991–2005.
   PubMed Web of Science ®Google Scholar
• Jin KL, Mao XO, Nagayama T, Goldsmith PC, Greenberg DA. Induction of vascular endothelial growth factor and hypoxia-inducible factor-1alpha by global ischemia in rat brain. Neuroscience. 2000;99(3):577–585.
   PubMed Web of Science ®Google Scholar
• Kaelin WG. Von Hippel-Lindau disease. Annu Rev Pathol. 2007;2:145–173.
   PubMed Web of Science ®Google Scholar
• Comi AM. Pathophysiology of Sturge-Weber syndrome. J Child Neurol. 2003;18(8):509–516.
   Web of Science ®Google Scholar
• Guo DC, Papke CL, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009;84(5):617–627.
   PubMed Web of Science ®Google Scholar
• Munot P, Crow YJ, Ganesan V. Paediatric stroke: genetic insights into disease mechanisms and treatment targets. Lancet Neurol. 2011;10(3):264–274.
   Web of Science ®Google Scholar
• Munot P, Saunders DE, Milewicz DM, et al. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain. 2012;135(Pt 8):2506–2514.
   Web of Science ®Google Scholar
• Sbaa E, Dewever J, Martinive P, et al. Caveolin plays a central role in endothelial progenitor cell mobilization and homing in SDF-1-driven postischemic vasculogenesis. Circ Res. 2006;98(9):1219–1227.
   Web of Science ®Google Scholar
• Ni G, Liu W, Huang X, et al. Increased levels of circulating SDF-1alpha and CD34+ CXCR4+ cells in patients with moyamoya disease. Eur J Neurol. 2011;18(11):1304–1309.
   Web of Science ®Google Scholar
• Ma J, You C. Association between matrix metalloproteinase-3 gene polymorphism and moyamoya disease. J Clin Neurosci. 2015;22(3):479–482.
   Web of Science ®Google Scholar
• Li H, Zhang ZS, Liu W, et al. Association of a functional polymorphism in the MMP-3 gene with moyamoya disease in the Chinese Han population. Cerebrovasc Dis. 2010;30(6):618–625.
   Web of Science ®Google Scholar
• Adam SS, Key NS, Greenberg CS. D-dimer antigen: current concepts and future prospects. Blood. 2009;113(13):2878–2887.
   PubMed Web of Science ®Google Scholar
• Dobson SR, Holden KR, Nietert PJ, et al. Moyamoya syndrome in childhood sickle cell disease: a predictive factor for recurrent cerebrovascular events. Blood. 2002;99(9):3144–3150.
   PubMed Web of Science ®Google Scholar
• Smith ER, McClain CD, Heeney M, Scott RM. Pial synangiosis in patients with moyamoya syndrome and sickle cell anemia: perioperative management and surgical outcome. Neurosurg Focus. 2009;26(4):E10.
   Web of Science ®Google Scholar
• Switzer JA, Hess DC, Nichols FT, Adams RJ. Pathophysiology and treatment of stroke in sickle-cell disease: present and future. Lancet Neurol. 2006;5(6):501–512.
   PubMed Web of Science ®Google Scholar
• Smith ER, Scott RM. Spontaneous occlusion of the circle of Willis in children: pediatric moyamoya summary with proposed evidence-based practice guidelines. A review. J Neurosurg Pediatr. 2012;9(4):353–360.
   Web of Science ®Google Scholar
• Schuhmacher AJ, Guerra C, Sauzeau V, Canamero M, Bustelo XR, Barbacid M. A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition. J Clin Invest. 2008;118(6):2169–2179.
   Web of Science ®Google Scholar
• Wang S, Yu WM, Zhang W, McCrae KR, Neel BG, Qu CK. Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis. J Biol Chem. 2009;284(2):913–920.
   Web of Science ®Google Scholar
• Korhonen EA, Lampinen A, Giri H, et al. Tie1 controls angiopoietin function in vascular remodeling and inflammation. J Clin Invest. 2016;126(9):3495–3510.
   PubMed Web of Science ®Google Scholar
• Wilhelm K, Happel K, Eelen G, et al. FOXO1 couples metabolic activity and growth state in the vascular endothelium. Nature. 2016;529(7585):216–220.
   PubMed Web of Science ®Google Scholar
• Amano T, Inoha S, Wu CM, Matsushima T, Ikezaki K. Serum alpha1-antitrypsin level and phenotype associated with familial moyamoya disease. Childs Nerv Syst. 2003;19(9):655–658.
   Web of Science ®Google Scholar
• Lee JY, Moon YJ, Lee HO, et al. Deregulation of retinaldehyde dehydrogenase 2 leads to defective angiogenic function of endothelial colony-forming cells in pediatric moyamoya disease. Arterioscler Thromb Vasc Biol. 2015;35(7):1670–1677.
   Web of Science ®Google Scholar
• Kim SK, Yoo JI, Cho BK, et al. Elevation of CRABP-I in the cerebrospinal fluid of patients with moyamoya disease. Stroke. 2003;34(12):2835–2841.
   Web of Science ®Google Scholar
• Jeon JS, Ahn JH, Moon YJ, et al. Expression of cellular retinoic acid-binding protein-I (CRABP-I) in the cerebrospinal fluid of adult onset moyamoya disease and its association with clinical presentation and postoperative haemodynamic change. J Neurol Neurosurg Psychiatry. 2014;85(7):726–731.
   Web of Science ®Google Scholar
• Yamauchi T, Tada M, Houkin K, et al. Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke. 2000;31(4):930–935.
   PubMed Web of Science ®Google Scholar
• Xu J, Ismat FA, Wang T, Yang J, Epstein JA. NF1 regulates a Ras-dependent vascular smooth muscle proliferative injury response. Circulation. 2007;116(19):2148–2156.
   PubMed Web of Science ®Google Scholar
• Hamilton SJ, Friedman JM. Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet. 2000;58(5):341–344.
   PubMed Web of Science ®Google Scholar
• Nanba R, Tada M, Kuroda S, Houkin K, Iwasaki Y. Sequence analysis and bioinformatics analysis of chromosome 17q25 in familial moyamoya disease. Childs Nerv Syst. 2005;21(1):62–68.
   Web of Science ®Google Scholar
• Mineharu Y, Liu W, Inoue K, et al. Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology. 2008;70(24 Pt 2):2357–2363.
   Web of Science ®Google Scholar
• Liu W, Hashikata H, Inoue K, et al. A rare Asian founder polymorphism of Raptor may explain the high prevalence of moyamoya disease among East Asians and its low prevalence among Caucasians. Environ Health Prev Med. 2010;15(2):94–104.
   Google Scholar
• Kamada F, Aoki Y, Narisawa A, et al. A genome-wide association study identifies RNF213 as the first moyamoya disease gene. J Hum Genet. 2011;56(1):34–40.
   PubMed Web of Science ®Google Scholar
• Morito D, Nishikawa K, Hoseki J, et al. Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state. Sci Rep. 2015;4(1):4442. doi:10.1038/srep04442
   Web of Science ®Google Scholar
• Liu W, Morito D, Takashima S, et al. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One. 2011;6(7):e22542.
   PubMed Web of Science ®Google Scholar
• Miyatake S, Miyake N, Touho H, et al. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology. 2012;78(11):803–810.
   Web of Science ®Google Scholar
• Miyatake S, Touho H, Miyake N, et al. Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity. J Hum Genet. 2012;57(12):804–806.
   Web of Science ®Google Scholar
• Mineharu Y, Takagi Y, Takahashi JC, et al. Rapid progression of unilateral moyamoya disease in a patient with a family history and an RNF213 risk variant. Cerebrovasc Dis. 2013;36(2):155–157.
   Web of Science ®Google Scholar
• Itokawa K, Fukui M, Yamamoto T, Tamura N, Ishihara S, Araki N. Dural arteriovenous fistula as a possible cause of Tolosa-Hunt syndrome: a case report. J Neurol. 2010;257(5):846–847.
   Web of Science ®Google Scholar
• Yanagawa Y, Sugiura T, Suzuki K, Okada Y. Moyamoya disease associated with positive findings for rheumatoid factor and myeloperoxidase-anti-neutrophil cytoplasmic antibody. West Indian Med J. 2007;56(3):282–284.
   Web of Science ®Google Scholar
• Joutel A, Andreux F, Gaulis S, et al. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest. 2000;105(5):597–605.
   Web of Science ®Google Scholar
• Roder C, Peters V, Kasuya H, et al. Polymorphisms in TGFB1 and PDGFRB are associated with moyamoya disease in European patients. Acta Neurochir (Wien). 2010;152(12):2153–2160.
   Web of Science ®Google Scholar
• Pepper MS. Transforming growth factor-beta: vasculogenesis, angiogenesis, and vessel wall integrity. Cytokine Growth Factor Rev. 1997;8(1):21–43.
   PubMedGoogle Scholar
• McCartney-Francis N, Mizel D, Wong H, Wahl L, Wahl S. TGF-beta regulates production of growth factors and TGF-beta by human peripheral blood monocytes. Growth Factors. 1990;4(1):27–35.
   Web of Science ®Google Scholar
• Yamamoto M, Aoyagi M, Tajima S, et al. Increase in elastin gene expression and protein synthesis in arterial smooth muscle cells derived from patients with Moyamoya disease. Stroke. 1997;28(9):1733–1738.
   Web of Science ®Google Scholar
• Massague J. TGFbeta signalling in context. Nat Rev Mol Cell Biol. 2012;13(10):616–630.
   PubMed Web of Science ®Google Scholar
• Nakamura Y, Morishita R, Higaki J, et al. Expression of local hepatocyte growth factor system in vascular tissues. Biochem Biophys Res Commun. 1995;215(2):483–488.
   Web of Science ®Google Scholar
• Liu C, Roder C, Schulte C, et al. Analysis of TGFB1 in European and Japanese moyamoya disease patients. Eur J Med Genet. 2012;55(10):531–534.
   Web of Science ®Google Scholar
• Winkler DT, Bondolfi L, Herzig MC, et al. Spontaneous hemorrhagic stroke in a mouse model of cerebral amyloid angiopathy. J Neurosci. 2001;21(5):1619–1627.
   PubMed Web of Science ®Google Scholar
• Leno C, Mateo I, Cid C, Berciano J, Sedano C. Autoimmunity in Down’s syndrome: another possible mechanism of moyamoya disease. Stroke. 1998;29(4):868–869.
   Web of Science ®Google Scholar
• Aoyagi M, Fukai N, Sakamoto H, et al. Altered cellular responses to serum mitogens, including platelet-derived growth factor, in cultured smooth muscle cells derived from arteries of patients with moyamoya disease. J Cell Physiol. 1991;147(2):191–198.
   PubMed Web of Science ®Google Scholar
• Lim M, Cheshier S, Steinberg GK. New vessel formation in the central nervous system during tumor growth, vascular malformations, and moyamoya. Curr Neurovasc Res. 2006;3(3):237–245.
   Web of Science ®Google Scholar
• Herve D, Touraine P, Verloes A, et al. A hereditary moyamoya syndrome with multisystemic manifestations. Neurology. 2010;75(3):259–264.
   Web of Science ®Google Scholar
• Meyer S, Zanardo L, Kaminski WE, et al. Elastosis perforans serpiginosa-like pseudoxanthoma elasticum in a child with severe Moya Moya disease. Br J Dermatol. 2005;153(2):431–434.
   Web of Science ®Google Scholar
• Johnson C, Sung HJ, Lessner SM, Fini ME, Galis ZS. Matrix metalloproteinase-9 is required for adequate angiogenic revascularization of ischemic tissues: potential role in capillary branching. Circ Res. 2004;94(2):262–268.
   PubMed Web of Science ®Google Scholar
• Fujimura M, Watanabe M, Narisawa A, Shimizu H, Tominaga T. Increased expression of serum Matrix Metalloproteinase-9 in patients with moyamoya disease. Surg Neurol. 2009;72(5):476–480.
   Google Scholar
• Sonobe S, Fujimura M, Niizuma K, et al. Increased vascular MMP-9 in mice lacking RNF213: moyamoya disease susceptibility gene. Neuroreport. 2014;25(18):1442–1446.
   Web of Science ®Google Scholar
• Asahara T, Chen D, Takahashi T, et al. Tie2 receptor ligands, angiopoietin-1 and angiopoietin-2, modulate VEGF-induced postnatal neovascularization. Circ Res. 1998;83(3):233–240.
   PubMed Web of Science ®Google Scholar
• Eklund L, Saharinen P. Angiopoietin signaling in the vasculature. Exp Cell Res. 2013;319(9):1271–1280.
   PubMed Web of Science ®Google Scholar
• Fagiani E, Christofori G. Angiopoietins in angiogenesis. Cancer Lett. 2013;328(1):18–26.
   PubMed Web of Science ®Google Scholar
• Kim M, Allen B, Korhonen EA, et al. Opposing actions of angiopoietin-2 on Tie2 signaling and FOXO1 activation. J Clin Invest. 2016;126(9):3511–3525.
   PubMed Web of Science ®Google Scholar
• Scheufler KM, Drevs J, van Velthoven V, et al. Implications of vascular endothelial growth factor, sFlt-1, and sTie-2 in plasma, serum and cerebrospinal fluid during cerebral ischemia in man. J Cereb Blood Flow Metab. 2003;23(1):99–110.
   PubMed Web of Science ®Google Scholar
• Tadros A, Hughes DP, Dunmore BJ, Brindle NP. ABIN-2 protects endothelial cells from death and has a role in the antiapoptotic effect of angiopoietin-1. Blood. 2003;102(13):4407–4409.
   Web of Science ®Google Scholar
• Jasmin JF, Malhotra S, Singh Dhallu M, Mercier I, Rosenbaum DM, Lisanti MP. Caveolin-1 deficiency increases cerebral ischemic injury. Circ Res. 2007;100(5):721–729.
   Web of Science ®Google Scholar
• Morais C, Ebrahem Q, Anand-Apte B, Parat MO. Altered angiogenesis in caveolin-1 gene-deficient mice is restored by ablation of endothelial nitric oxide synthase. Am J Pathol. 2012;180(4):1702–1714.
   Web of Science ®Google Scholar
• Sonveaux P, Martinive P, DeWever J, et al. Caveolin-1 expression is critical for vascular endothelial growth factor-induced ischemic hindlimb collateralization and nitric oxide-mediated angiogenesis. Circ Res. 2004;95(2):154–161.
   Web of Science ®Google Scholar
• Xu L, Guo R, Xie Y, Ma M, Ye R, Liu X. Caveolae: molecular insights and therapeutic targets for stroke. Expert Opin Ther Targets. 2015;19(5):633–650.
   PubMed Web of Science ®Google Scholar
• Jung KH, Chu K, Lee ST, et al. Circulating endothelial progenitor cells as a pathogenetic marker of moyamoya disease. J Cereb Blood Flow Metab. 2008;28(11):1795–1803.
   Web of Science ®Google Scholar
• Kang HS, Wang KC, Kim SK. Circulating vascular progenitor cells in moyamoya disease. J Korean Neurosurg Soc. 2015;57(6):428–431.
   Web of Science ®Google Scholar
• Kim JH, Jung JH, Phi JH, et al. Decreased level and defective function of circulating endothelial progenitor cells in children with moyamoya disease. J Neurosci Res. 2010;88(3):510–518.
   PubMed Web of Science ®Google Scholar
• Rafat N, Beck G, Pena-Tapia PG, Schmiedek P, Vajkoczy P. Increased levels of circulating endothelial progenitor cells in patients with moyamoya disease. Stroke. 2009;40(2):432–438.
   Web of Science ®Google Scholar
• Sugiyama T, Kuroda S, Nakayama N, Tanaka S, Houkin K. Bone marrow-derived endothelial progenitor cells participate in the initiation of moyamoya disease. Neurol Med Chir (Tokyo). 2011;51(11):767–773.
   Web of Science ®Google Scholar
• Yoshihara T, Taguchi A, Matsuyama T, et al. Increase in circulating CD34-positive cells in patients with angiographic evidence of moyamoya-like vessels. J Cereb Blood Flow Metab. 2008;28(6):1086–1089.
   Web of Science ®Google Scholar
• Zhang W, Wang X, Wang Z, Shang J, Wang H, Yin G. Effectiveness of superficial temporal artery-to-middle cerebral artery anastomosis in treating moyamoya disease by reducing endothelial progenitor cells. World Neurosurg. 2016;93:365–370.
   Web of Science ®Google Scholar
• Kang HS, Moon YJ, Kim YY, et al. Smooth-muscle progenitor cells isolated from patients with moyamoya disease: novel experimental cell model. J Neurosurg. 2014;120(2):415–425.
   Web of Science ®Google Scholar
• Bernard TJ, Fenton LZ, Apkon SD, et al. Biomarkers of hypercoagulability and inflammation in childhood-onset arterial ischemic stroke. J Pediatr. 2010;156(4):651–656.
   Web of Science ®Google Scholar
• Fujimura M, Fujimura T, Kakizaki A, et al. Increased serum production of soluble CD163 and CXCL5 in patients with moyamoya disease: involvement of intrinsic immune reaction in its pathogenesis. Brain Res. 2018;1679:39–44.
   Web of Science ®Google Scholar
• Phi JH, Suzuki N, Moon YJ, et al. Chemokine ligand 5 (CCL5) derived from endothelial colony-forming cells (ECFCs) mediates recruitment of smooth muscle progenitor cells (SPCs) toward critical vascular locations in moyamoya disease. PLoS One. 2017;12(1):e0169714.
   Web of Science ®Google Scholar
• Ogawa K, Nagahiro S, Arakaki R, Ishimaru N, Kobayashi M, Hayashi Y. Anti-alpha-fodrin autoantibodies in moyamoya disease. Stroke. 2003;34(12):e244–e246.
   Web of Science ®Google Scholar
• Ruggeberg S, Horn P, Li X, Vajkoczy P, Franz T. Detection of a gamma-carboxy-glutamate as novel post-translational modification of human transthyretin. Protein Pept Lett. 2008;15(1):43–46.
   Web of Science ®Google Scholar
• Koh EJ, Kim HN, Ma TZ, Choi HY, Kwak YG. Comparative analysis of serum proteomes of moyamoya disease and normal controls. J Korean Neurosurg Soc. 2010;48(1):8–13.
   Web of Science ®Google Scholar
• Kashiwazaki D, Uchino H, Kuroda S. Downregulation of apolipoprotein-E and apolipoprotein-J in moyamoya disease - a proteome analysis of cerebrospinal fluid. J Stroke Cerebrovasc Dis. 2017;26(12):2981–2987.
   Web of Science ®Google Scholar
• Maruwaka M, Yoshikawa K, Okamoto S, et al. Biomarker research for moyamoya disease in cerebrospinal fluid using surface-enhanced laser desorption/ionization time-of-flight mass spectrometry. J Stroke Cerebrovasc Dis. 2015;24(1):104–111.
   Web of Science ®Google Scholar
• Houkin K, Ito M, Sugiyama T, et al. Review of past research and current concepts on the etiology of moyamoya disease. Neurol Med Chir (Tokyo). 2012;52(5):267–277.
   Web of Science ®Google Scholar
• Chen JB, Liu Y, Zhou LX, Sun H, He M, You C. Increased prevalence of autoimmune disease in patients with unilateral compared with bilateral moyamoya disease. J Neurosurg. 2016;124(5):1215–1220.
   Web of Science ®Google Scholar
• Suzuki J, Kodama N. Moyamoya disease–a review. Stroke. 1983;14(1):104–109.
   Web of Science ®Google Scholar
• Hishikawa T, Tokunaga K, Sugiu K, Date I. Assessment of the difference in posterior circulation involvement between pediatric and adult patients with moyamoya disease. J Neurosurg. 2013;119(4):961–965.
   Web of Science ®Google Scholar
• Fujimura M, Tominaga T. Current status of revascularization surgery for moyamoya disease: special consideration for its ‘internal carotid-external carotid (IC-EC) conversion’ as the physiological reorganization system. Tohoku J Exp Med. 2015;236(1):45–53.
   PubMed Web of Science ®Google Scholar
• Bower RS, Mallory GW, Nwojo M, Kudva YC, Flemming KD, Meyer FB. Moyamoya disease in a primarily white, midwestern US population: increased prevalence of autoimmune disease. Stroke. 2013;44(7):1997–1999.
   Web of Science ®Google Scholar
• Chen JB, Liu Y, Zhou LX, Sun H, He M, You C. Prevalence of autoimmune disease in moyamoya disease patients in Western Chinese population. J Neurol Sci. 2015;351(1–2):184–186.
   Web of Science ®Google Scholar
• Suzuki S, Mitsuyama T, Horiba A, Fukushima S, Hashimoto N, Kawamata T. Moyamoya disease complicated by Graves’ disease and type 2 diabetes mellitus: report of two cases. Clin Neurol Neurosurg. 2011;113(4):325–329.
   Web of Science ®Google Scholar
• Mejia-Munne JC, Ellis JA, Feldstein NA, Meyers PM, Connolly ES. Moyamoya and inflammation. World Neurosurg. 2017;100:575–578.
   Web of Science ®Google Scholar
• Takagi Y, Hermanto Y, Takahashi JC, et al. Histopathological characteristics of distal middle cerebral artery in adult and pediatric patients with moyamoya disease. Neurol Med Chir (Tokyo). 2016;56(6):345–349.
   PubMed Web of Science ®Google Scholar
• Masuda J, Ogata J, Yutani C. Smooth muscle cell proliferation and localization of macrophages and T cells in the occlusive intracranial major arteries in moyamoya disease. Stroke. 1993;24(12):1960–1967.
   Web of Science ®Google Scholar
• Chalouhi N, Ali MS, Jabbour PM, et al. Biology of intracranial aneurysms: role of inflammation. J Cereb Blood Flow Metab. 2012;32(9):1659–1676.
   PubMed Web of Science ®Google Scholar
• Yu X, Li Z. MicroRNAs regulate vascular smooth muscle cell functions in atherosclerosis (review). Int J Mol Med. 2014;34(4):923–933.
   Web of Science ®Google Scholar
• Oka K, Yamashita M, Sadoshima S, Tanaka K. Cerebral haemorrhage in moyamoya disease at autopsy. Virchows Arch a Pathol Anat Histol. 1981;392(3):247–261.
   Web of Science ®Google Scholar
• Czabanka M, Pena-Tapia P, Schubert GA, Woitzik J, Vajkoczy P, Schmiedek P. Characterization of cortical microvascularization in adult moyamoya disease. Stroke. 2008;39(6):1703–1709.
   Web of Science ®Google Scholar
• Baltsavias G, Khan N, Valavanis A. The collateral circulation in pediatric moyamoya disease. Childs Nerv Syst. 2015;31(3):389–398.
   Web of Science ®Google Scholar
• Kim SJ, Son TO, Kim KH, et al. Neovascularization precedes occlusion in moyamoya disease: angiographic findings in 172 pediatric patients. Eur Neurol. 2014;72(5–6):299–305.
   Web of Science ®Google Scholar
• Hou K, Ji T, Guo Y, Xu K, Yu J. The coexistence of persistent primitive trigeminal artery, moyamoya disease, and multiple intracranial aneurysms: a case report and literature review. World Neurosurg. 2019;23.
   Google Scholar
• Nishino K, Ito Y, Sorimachi T, Shimbo J, Fujii Y. Sturge-Weber syndrome associated with arteriovenous malformation in a patient presenting with progressive brain edema and cyst formation. J Neurosurg Pediatr. 2010;5(5):529–534.
   Web of Science ®Google Scholar
• Wu Z, Jiang H, Zhang L, et al. Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population. PLoS One. 2012;7(10):e48179.
   Web of Science ®Google Scholar
• Mikami T, Suzuki H, Komatsu K, Mikuni N. Influence of inflammatory disease on the pathophysiology of moyamoya disease and quasi-moyamoya disease. Neurol Med Chir (Tokyo). 2019;59(10):361–370.
   Web of Science ®Google Scholar
• Choi EH, Lee H, Chung JW, et al. Ring finger protein 213 variant and plaque characteristics, vascular remodeling, and hemodynamics in patients with intracranial atherosclerotic stroke: a high-resolution magnetic resonance imaging and hemodynamic study. J Am Heart Assoc. 2019;8(20):e011996.
   Web of Science ®Google Scholar
• Zhu B, Liu X, Zhen X, et al. RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population. Ann Transl Med. 2020;8(14):851.
   Web of Science ®Google Scholar
• Cecchi AC, Guo D, Ren Z, et al. RNF213 rare variants in an ethnically diverse population with moyamoya disease. Stroke. 2014;45(11):3200–3207.
   Web of Science ®Google Scholar
• Zhang Q, Liu Y, Zhang D, et al. RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance. J Neurosurg. 2017;126(4):1106–1113.
   Web of Science ®Google Scholar
• Hitomi T, Habu T, Kobayashi H, et al. Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients. Biochem Biophys Res Commun. 2013;438(1):13–19.
   Web of Science ®Google Scholar
• Hitomi T, Habu T, Kobayashi H, et al. The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality. Biochem Biophys Res Commun. 2013;439(4):419–426.
   Web of Science ®Google Scholar
• Sonobe S, Fujimura M, Niizuma K, et al. Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: a susceptibility gene for moyamoya disease. Brain Res. 2014;1552:64–71.
   Web of Science ®Google Scholar
• Kanoke A, Fujimura M, Niizuma K, et al. Temporal profile of the vascular anatomy evaluated by 9.4-tesla magnetic resonance angiography and histological analysis in mice with the R4859K mutation of RNF213, the susceptibility gene for moyamoya disease. Brain Res. 2015;1624:497–505.
   Web of Science ®Google Scholar
• Kanoke A, Fujimura M, Niizuma K, et al. Temporal profile of magnetic resonance angiography and decreased ratio of regulatory T cells after immunological adjuvant administration to mice lacking RNF213, a susceptibility gene for moyamoya disease. Brain Res. 2016;1642:1–9.
   Web of Science ®Google Scholar
• Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007;39(12):1488–1493.
   Web of Science ®Google Scholar
• Milewicz DM, Ostergaard JR, Ala-Kokko LM, et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A. 2010;152A(10):2437–2443.
   Web of Science ®Google Scholar
• Heyer GL, Dowling MM, Licht DJ, et al. The cerebral vasculopathy of PHACES syndrome. Stroke. 2008;39(2):308–316.
   Web of Science ®Google Scholar
• Siegel DH, Tefft KA, Kelly T, et al. Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature. Stroke. 2012;43(6):1672–1674.
   Web of Science ®Google Scholar
• Ganesan V, Kirkham FJ. Noonan syndrome and moyamoya. Pediatr Neurol. 1997;16(3):256–258.
   Web of Science ®Google Scholar
• Hinnant CA. Noonan syndrome associated with thromboembolic brain infarcts and posterior circulation abnormalities. Am J Med Genet. 1995;56(2):241–244.
   Web of Science ®Google Scholar
• Paez MT, Yamamoto T. Single nucleotide polymorphisms of tissue inhibitor of metalloproteinase genes in familial moyamoya disease. Neurosurgery. 2007;60(3):E582.
   Google Scholar
• Bersano A, Guey S, Bedini G, et al. Research progresses in understanding the pathophysiology of moyamoya disease. Cerebrovasc Dis. 2016;41(3–4):105–118.
   Web of Science ®Google Scholar
• Aoyagi M, Fukai N, Matsushima Y, Yamamoto M, Yamamoto K. Kinetics of 125I-PDGF binding and down-regulation of PDGF receptor in arterial smooth muscle cells derived from patients with moyamoya disease. J Cell Physiol. 1993;154(2):281–288.
   Web of Science ®Google Scholar
• Saharinen P, Kerkela K, Ekman N, et al. Multiple angiopoietin recombinant proteins activate the Tie1 receptor tyrosine kinase and promote its interaction with Tie2. J Cell Biol. 2005;169(2):239–243.
   PubMed Web of Science ®Google Scholar
• Blecharz KG, Frey D, Schenkel T, et al. Autocrine release of angiopoietin-2 mediates cerebrovascular disintegration in moyamoya disease. J Cereb Blood Flow Metab. 2016;5.
   Web of Science ®Google Scholar
• Yu J, Huang K, Pan J, Shen J, Zhan R. Significance of serum angiopoietin-2 in patients with hemorrhage in adult-onset moyamoya disease. Biomed Res Int. 2020;2020:8209313.
   Web of Science ®Google Scholar
• Bang OY, Chung JW, Kim SJ, et al. Caveolin-1, Ring finger protein 213, and endothelial function in moyamoya disease. Int J Stroke. 2016;11(9):999–1008.
   Web of Science ®Google Scholar
• Chung JW, Kim DH, Oh MJ, et al. Cav-1 (caveolin-1) and arterial remodeling in adult moyamoya disease. Stroke. 2018;49(11):2597–2604.
   Web of Science ®Google Scholar
• Taylor CT, Doherty G, Fallon PG, Cummins EP. Hypoxia-dependent regulation of inflammatory pathways in immune cells. J Clin Invest. 2016;126(10):3716–3724.
   PubMed Web of Science ®Google Scholar
• Zhang Z, Yao L, Yang J, Wang Z, Du G. PI3K/Akt and HIF1 signaling pathway in hypoxiaischemia (Review). Mol Med Rep. 2018;18(4):3547–3554.
   PubMed Web of Science ®Google Scholar
• Soriano SG, Cowan DB, Proctor MR, Scott RM. Levels of soluble adhesion molecules are elevated in the cerebrospinal fluid of children with moyamoya syndrome. Neurosurgery. 2002;50(3):544–549.
   Web of Science ®Google Scholar
• Hamauchi S, Shichinohe H, Uchino H, et al. Cellular functions and gene and protein expression profiles in endothelial cells derived from moyamoya disease-specific iPS cells. PLoS One. 2016;11(9):e0163561.
   Web of Science ®Google Scholar
• Strimbu K, Tavel JA. What are biomarkers? Curr Opin HIV AIDS. Nov. 2010;5(6):463–466.
   Google Scholar
• Bang OY, Goyal M, Liebeskind DS. Collateral circulation in ischemic stroke: assessment tools and therapeutic strategies. Stroke. 2015;46(11):3302–3309.
   PubMed Web of Science ®Google Scholar
• Navarro G, Borroto-Escuela DO, Fuxe K, Franco R. Potential of caveolae in the therapy of cardiovascular and neurological diseases. Front Physiol. 2014;5:370.
   Web of Science ®Google Scholar
• Lin N, Baird L, Koss M, et al. Discovery of asymptomatic moyamoya arteriopathy in pediatric syndromic populations: radiographic and clinical progression. Neurosurg Focus. 2011;31(6):E6.
   Web of Science ®Google Scholar
• Koss M, Scott RM, Irons MB, Smith ER, Ullrich NJ. Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization. J Neurosurg Pediatr. 2013;11(4):417–425.
   Web of Science ®Google Scholar
• Kuroda S, Hashimoto N, Yoshimoto T, Iwasaki Y. Research Committee on Moyamoya Disease in Japan. Radiological findings, clinical course, and outcome in asymptomatic moyamoya disease: results of multicenter survey in Japan. Stroke. 2007;38(5):1430–1435.
   Web of Science ®Google Scholar
• Kuroda S, Group AS. Asymptomatic moyamoya disease: literature review and ongoing AMORE study. Neurol Med Chir (Tokyo). 2015;55(3):194–198.
   Web of Science ®Google Scholar
• Lee JY, Kim SK, Cheon JE, et al. Posterior cerebral artery involvement in moyamoya disease: initial infarction and angle between PCA and basilar artery. Childs Nerv Syst. 2013;29(12):2263–2269.
   Web of Science ®Google Scholar
• Smith ER, Scott RM. Progression of disease in unilateral moyamoya syndrome. Neurosurg Focus. 2008;24(2):E17.
   Web of Science ®Google Scholar