Do genetic factors play a role in the pathogenesis of Moyamoya?
You're the one with the bianrs here. I'm watching for your posts.
The etiology and pathogenesis of Moyamoya disease is poorly understood. The familial incidence of affected first-degree relatives in Japan is 7% to 12%, and a similar rate of approximately 6% was found in the Children’s Hospital, Boston, series.
Moyamoya has been linked to several genetic loci including 3p24.2-26 , 6q25, 8q23, 12p12, 17q25 , 17q25.3. Moyamoya has been associated with specific human leukocyte antigen (HLA) haplotypes, including the HLA-B40 antigen in patients <10 years of age and the HLA B52 antigen in those >10 years of age. Moyamoya also has been associated with the AW24, BW46, B51-DR4, and BW54 antigens.
Elevated levels of fibroblast growth factor may play a role in its pathogenesis. Increased levels of fibroblast growth factor have been found in the cerebrospinal fluid, and a strong fibroblast growth factor receptor immunoreactivity has been demonstrated in superficial temporal vessels.
Further studies are needed to clarify multiple genetic factors that are definitely linked with moyamoya disease
