Genetical and Immunological Analysis on Moyamoya Disease

Abstract

To assess the genetical and immunological abnormalities in the pathogenesis of Moyamoya disease, we studied 23 patients with angiographically diagnosed Moyamoya disease including 15 child type and 8 adult type cases. A) In HLA-A, -B, -C stereotyping we have found significant association of AW24, BW46 and BW54 with relative risk of 3.83, 6.50 and 3.58 respectively. B) Natural T cell toxic autoantibody (NTA) was detected by FACS analysis in 5 of 23 patients examined. C) Millipore filter assay for double stranded DNA revealed high percent binding in 4 out of 18 patients with the disease. D) Anti-vessel antibody was not detected in any of 23 patients studied. Significant association with certain HLA types in addition to the presence of NTA and anti-double stranded DNA antibody in patients sera support the idea of genetical and immunological disturbances in the pathogenesis of Moyamoya disease.