Abstract
Most patients with moyamoya disease are sporadic cases, but in Japan, 10–15% of patients with moyamoya disease have affected first-degree relatives [1– 3]. In the United States, 6% of patients have a family history of the disease [4, 5]. The presence of familial cases in many countries suggests that genetic factors participate in the etiology of moyamoya disease. There may be some minor differences of clinical presentations between familial and sporadic cases. The ratio of women to men is 5.0 in familial cases and 1.6 in sporadic cases. Age of onset (mean ± SD) was 11.8 ± 11.7 in familial cases while in sporadic cases it was 30.0 ± 20.9 [6].
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Ikezaki K, Han DH, Kawano T et al (1997) A clinical comparison of definite moyamoya disease between South Korea and Japan. Stroke 28:2513–2517
Wakai K, Tamakoshi A, Ikezaki K et al (1997) Epidemiological features of moyamoya disease in Japan: findings from a nationwide survey. Clin Neurol Neurosurg 99:S1–S5
Yamauchi T, Houkin K, Tada M et al (1997) Familial occurrence of moyamoya disease. Clin Neurol Neurosurg 99:S162–S167
Fukui M, Kono S, Sueishi K et al (2000) Moyamoya disease. Neuropathology 20:S61–S64
Scott RM, Smith JL, Robertson RL et al (2004) Long-term outcome in children with moyamoya syndrome after cranial revascularization by pial synangiosis. J Neurosurg 100 (2 Suppl Pediatrics): 142–149
Nanba R, Kuroda S, Tada M et al (2006) Clinical features of familial moyamoya disease. Childs Nerv Syst 22:258–262
Hashikata H, Liu W, Mineharu Y et al (2008) Current knowledge on the genetic factors involved in moyamoya disease. Brain Nerve 60:1261–1269
Tanghetti B, Capra R, Giunta F et al (1983) Moyamoya syndrome in only one of two identical twins. Case report. J Neurosurg 59:1092–1094
Ikezaki K (2001) Clinical manifestation: epidemiology, symptoms and signs, laboratory findings. In: Ikezaki K, Loftus C (eds) Moyamoya disease. Thieme, New York, p43–75
Baba T, Houkin K, Kuroda S (2008) Novel epidemiological features of moyamoya disease. J Neurol Neurosurg Psychiatry 79:900–904
Uchino K, Johnston SC, Becker KJ et al (2005) Moyamoya disease in Washington State and California. Neurology 65:956–958
Yonekawa Y, Ogata N, Kaku Y et al (1997) Moyamoya disease in Europe, past and present status. Clin Neurol Neurosurg 99:S58–S60
Ikezaki k, Loftus C (2001) Quasi-moyamoya disease: definition, classification, and therapy. In: Ikezaki k, Loftus C (eds) Moyamoya disease. Thieme, New York, p 2341
Yamamoto M, Aoyagi M, Tajima S et al (1997) Increase in elastin gene expression and protein synthesis in arterial smooth muscle cells derived from patients with moyamoya disease. Stroke 28:1733–1738
Mineharu Y, Takenaka K, Yamakawa H et al (2006) Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting. J Neurol Neurosurg Psychiatry 77:1025–1029
Ikeda H, Sasaki T, Yoshimoto T et al (1999) Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. Am J Hum Genet 64:533–537
Inoue TK, Ikezaki K, Sasazuki T et al (1997) DNA typing of HLA in the patients with moyamoya disease. Jpn J Hum Genet 42:507–515
Sakurai K, Horiuchi Y, Ikeda H et al (2004) A novel susceptibility locus for moyamoya disease on chromosome 8q23. J Hum Genet 49:278–281
Yamauchi T, Tada M, Houkin K et al (2000) Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke 31:930–935
Mineharu Y, Liu W, Inoue K et al (2008) Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology 70:2357–2363
Yamamoto M, Aoyagi M, Fukai N et al (1998) Differences in cellular responses to mitogens in arterial smooth muscle cells derived from patients with moyamoya disease. Stroke 29:1188–1193
Yamamoto M, Aoyagi M, Fukai N et al (1999) Increase in prostaglandin E(2) production by interleukin-1beta in arterial smooth muscle cells derived from patients with moyamoya disease. Circ Res 85:912–918
Johnson C, Galis ZS (2004) Matrix metalloproteinase-2 and -9 differentially regulate smooth muscle cell migration and cell-mediated collagen organization. Arterioscler Thromb Vasc Biol 24:54–60
Kang HS, Kim SK, Cho BK et al (2006) Single nucleotide polymorphisms of tissue inhibitor of metalloproteinase genes in familial moyamoya disease. Neurosurgery 58:1074–1080; discussion-80
Guo DC, Pannu H, Tran-Fadulu V et al (2007) Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 39:1488–1493
Guo DC, Papke CL, Tran-Fadulu V et al (2009) Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and moyamoya disease, along with thoracic aortic disease. Am J Hum Genet 84:617–627
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer
About this chapter
Cite this chapter
Kure, S. (2010). Overview. In: Cho, BK., Tominaga, T. (eds) Moyamoya Disease Update. Springer, Tokyo. https://doi.org/10.1007/978-4-431-99703-0_6
Download citation
DOI: https://doi.org/10.1007/978-4-431-99703-0_6
Publisher Name: Springer, Tokyo
Print ISBN: 978-4-431-99702-3
Online ISBN: 978-4-431-99703-0
eBook Packages: MedicineMedicine (R0)