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Genetic and immunologic analysis on moya-moya

T Kitahara, K Okumura, A Semba

Journal of Neurology, Neurosurgery, and Psychiatry

|November 1, 1982

Summary

Genetic and immunologic factors are linked to moya-moya disease. Specific human leukocyte antigen (HLA) types and autoantibodies suggest these disturbances play a role in the condition

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Area of Science:

Neurology
Immunology
Genetics

Background:

Moya-moya disease is a rare cerebrovascular disorder characterized by progressive stenosis of the intracranial arteries.
The underlying pathogenesis involving genetic and immunologic factors remains incompletely understood.

Purpose of the Study:

To investigate potential genetic predispositions and immunologic abnormalities in patients with angiographically diagnosed moya-moya disease.
To explore the association of specific human leukocyte antigen (HLA) types and autoantibodies with moya-moya pathogenesis.

Main Methods:

Human leukocyte antigen (HLA)-A, -B, -C stereotyping was performed on 23 patients (13 children, 10 adults).
Flow cytometry (FACS) analysis was used to detect natural T cell toxic autoantibodies.
Millipore filter assay assessed autoantibodies against double-stranded DNA (anti-dsDNA).

Main Results:

Significant associations were found between moya-moya disease and specific HLA types: AW24 (RR 3.83), BW46 (RR 6.50), and BW54 (RR 3.58).
Natural T cell toxic autoantibodies were detected in 5 of 23 patients.
Elevated anti-dsDNA antibody binding was observed in 4 of 18 patients; anti-vessel antibodies were not detected.

Conclusions:

The findings support a theory implicating genetic and immunologic disturbances in the pathogenesis of moya-moya disease.
Specific HLA associations and the presence of autoantibodies suggest an immune-mediated component in the disease's development.

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