Moyamoya disease

Definition:

Moyamoya disease is a rare cerebrovascular disease characterized by a progressive stenosis or occlusion of the terminal portion of the internal carotid artery. This disease is associated with the compensatory development of abnormally thin and fragile collateral vessels at the base of the brain.

References:

[1]. Dominique Hervé, et al. Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. Am J Hum Genet. 2014 Mar 6;94(3):385-94. [Content Brief]

[2]. Dong-Chuan Guo, et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009 May;84(5):617-27. [Content Brief]

[3]. Fumiaki Kamada, et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet. 2011 Jan;56(1):34-40. [Content Brief]

[4]. M Komiyama, et al. Moyamoya Disease is a Progressive Occlusive Arteriopathy of the Primitive Internal Carotid Artery. Interv Neuroradiol. 2003 Mar 30;9(1):39-45. [Content Brief]

[5]. S Miyatake, et al. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology. 2012 Mar 13;78(11):803-10. [Content Brief]

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