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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Genetic and immunologic analysis on moya-moya.

The genetic and immunologic abnormalities associated with the pathogenesis of moya-moya were assessed in 23, 13 children and 10 adults with angiographically diagnosed moya-moya. In HLA-A, -B, -C stereotyping, an association was found of AW24, BW46, and BW54 with relative risks of 3.83, 6.50, and 3.58 respectively. Natural T cell toxic autoantibody was detected by FACS analysis in sera from five out of 23 patients. Millipore filter assay for autoantibody against double-stranded DNA revealed higher than normal binding in sera from four out of 18 patients. Anti-vessel antibody which might be responsible for vascular change associated with moya-moya was not detected in any of the 23 patients studied. Significant association of the disease with certain HLA types, in addition to the presence of natural T cell toxic autoantibody and anti-double-stranded DNA antibody in patients' sera, supports the theory that genetic and immunologic disturbances may underly the pathogenesis of moya-moya.[1]


  1. Genetic and immunologic analysis on moya-moya. Kitahara, T., Okumura, K., Semba, A., Yamaura, A., Makino, H. J. Neurol. Neurosurg. Psychiatr. (1982) [Pubmed]
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