Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging ... Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by Roder et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).
Guo et al. (2009) reported 3 unrelated families segregating both thoracic aneurysms with dissection (TAAD) and moyamoya disease. Onset of stroke in these families ranged from 5 to 46 years. Some patients had isolated moyamoya, some had isolated ... Guo et al. (2009) reported 3 unrelated families segregating both thoracic aneurysms with dissection (TAAD) and moyamoya disease. Onset of stroke in these families ranged from 5 to 46 years. Some patients had isolated moyamoya, some had isolated thoracic aneurysm, and some had both conditions.
In affected members of 3 unrelated families with moyamoya disease, Guo et al. (2009) identified 3 different heterozygous mutations in the ACTA2 gene (see, e.g., R258H, 102620.0002 and R258C, 102620.0003). Several members of all families also had TAAD, ... In affected members of 3 unrelated families with moyamoya disease, Guo et al. (2009) identified 3 different heterozygous mutations in the ACTA2 gene (see, e.g., R258H, 102620.0002 and R258C, 102620.0003). Several members of all families also had TAAD, but isolated moyamoya disease was found in 1 member of each family. Roder et al. (2011) identified a heterozygous mutation in the ACTA2 gene (R179H; 102620.0004) in 1 of 39 unrelated patients of European descent with moyamoya disease and no family history of the disorder. The patient had onset of stroke at age 3 years. No other previously described ACTA2 mutations associated with moyamoya disease (Guo et al., 2009) were found in this cohort.