Abstract
Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery. Moyamoya disease is prevalent among patients <10 years of age. Although most cases appear to be sporadic, approximately 10% occur as familial cases. The incidence of familial cases has been increasing because noninvasive diagnostic equipment, such as magnetic-resonance imaging and magnetic-resonance angiography, can detect the disease in almost all affected patients, including asymptomatic patients, during screening studies. In this study, we performed a total genome search to identify the location of a familial moyamoya disease gene in 16 families, assuming an unknown mode of inheritance. A linkage was found between the disease and markers located at 3p24.2-26. A maximum NPL score of 3.46 was obtained with marker D3S3050. This is the first genetic locus found to be involved in the molecular pathogenesis of familial moyamoya disease.
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- Collod G., Babron M. C., Jondeau G., Coulon M., Weissenbach J., Dubourg O., Bourdarias J. P., Bonaïti-Pellié C., Junien C., Boileau C. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet. 1994 Nov;8(3):264–268. doi: 10.1038/ng1194-264. [DOI] [PMC free article] [PubMed] [Google Scholar]
- EDWARDS J. H. The simulation of mendelism. Acta Genet Stat Med. 1960;10:63–70. doi: 10.1159/000151119. [DOI] [PubMed] [Google Scholar]
- Fukui M. Current state of study on moyamoya disease in Japan. Surg Neurol. 1997 Feb;47(2):138–143. doi: 10.1016/s0090-3019(96)00358-8. [DOI] [PubMed] [Google Scholar]
- Goto Y., Yonekawa Y. Worldwide distribution of moyamoya disease. Neurol Med Chir (Tokyo) 1992 Nov;32(12):883–886. doi: 10.2176/nmc.32.883. [DOI] [PubMed] [Google Scholar]
- Ikezaki K., Han D. H., Kawano T., Kinukawa N., Fukui M. A clinical comparison of definite moyamoya disease between South Korea and Japan. Stroke. 1997 Dec;28(12):2513–2517. doi: 10.1161/01.str.28.12.2513. [DOI] [PubMed] [Google Scholar]
- Lander E., Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 1995 Nov;11(3):241–247. doi: 10.1038/ng1195-241. [DOI] [PubMed] [Google Scholar]
- Latif F., Tory K., Gnarra J., Yao M., Duh F. M., Orcutt M. L., Stackhouse T., Kuzmin I., Modi W., Geil L. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993 May 28;260(5112):1317–1320. doi: 10.1126/science.8493574. [DOI] [PubMed] [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. doi: 10.1007/BF02155663. [DOI] [PubMed] [Google Scholar]
- Suzuki J., Takaku A. Cerebrovascular "moyamoya" disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol. 1969 Mar;20(3):288–299. doi: 10.1001/archneur.1969.00480090076012. [DOI] [PubMed] [Google Scholar]
- Takiyama Y., Igarashi S., Rogaeva E. A., Endo K., Rogaev E. I., Tanaka H., Sherrington R., Sanpei K., Liang Y., Saito M. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet. 1995 Jul;4(7):1137–1146. doi: 10.1093/hmg/4.7.1137. [DOI] [PubMed] [Google Scholar]
- Yamamoto M., Aoyagi M., Tajima S., Wachi H., Fukai N., Matsushima Y., Yamamoto K. Increase in elastin gene expression and protein synthesis in arterial smooth muscle cells derived from patients with Moyamoya disease. Stroke. 1997 Sep;28(9):1733–1738. doi: 10.1161/01.str.28.9.1733. [DOI] [PubMed] [Google Scholar]