Heterogeneity of Moyamoya disease After a decade of linkage, is there new hope for a gene?

摘要

Moyamoya disease is a rare sporadic disorder with a complex etiology. The high prevalence of moyamoya in Japan relative to other countries supports a heritable component to the disease, with about 10% of patients reporting a family history. An epidemiologic study performed in California and Washington state also showed that Asian Americans have a greater than fourfold increased incidence of moyamoya relative to whites, further supporting heritability.1 Classic linkage methods have elucidated chromosomal loci that effect susceptibility to familial moyamoya disease. Studies of Japanese affected sibling pairs and small nuclear families with moyamoya disease have suggested linkage to at least five chromosomal regions: 3p24.2-p26, 6q25, 8q23, 12pl2, and 17q25#