What is the etiology of moyamoya disease?

Updated: Nov 09, 2018
  • Author: Roy Sucholeiki, MD; Chief Editor: Amy Kao, MD  more...
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The cause of moyamoya disease is not known. The disease is believed to be genetic. Fukui reported a family history in 10% of patients with the disorder. Moreover, Mineharu suggested that familial moyamoya disease is autosomal dominant with incomplete penetrance that depends on age and genomic imprinting factors. [2] Genetically, susceptibility loci have been found on 3p, 6p, 17q, and band 8q23. Mineharu et al have found a specific gene locus, q25.3, on chromosome 17. [3] A genome-wide association study identified RNF213 as the first gene associated with moyamoya. [4] One meta-analysis demonstrated that there are strong associations between p.R4859K and p.R4810K polymorphisms of the RNF213 gene and moyamoya disease. [5]

People with moyamoya disease have been found to have a higher incidence of elevated thyroid antibodies. [6] While this is an association in some individuals, the significance is not clear. However, it suggests that immune abnormalities may play some role in moyamoya disease.

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