Long-term follow-up study of patients with unilateral Moyamoya disease

A Genome-Wide Study of Moyamoya-Type Cerebrovascular Disease in the Korean Population

“…Our data corroborate previous reports from our group and others that many patients with unilateral moyamoya may develop disease on the non-affected side in a very delayed fashion or not at all 5,10,12,17) . The ability to accurately predict patients with unilateral moyamoya who are at greater risk for developing contralateral disease would be of substantial clinical advantage.…”

“…Although data on CNVs are still largely rudimentary, new developments in highresolution scanning technology will likely facilitate the establishment of comprehensive CNV maps. It is unlikely that any one technology alone will allow thorough identification of all CNVs, so future work should focus on verifying primary results, integrating multiple data sources, and assigning population frequencies to these genomic variants 1,5,6,17,19) . A genome-wide screen for CNVs by analysis of Illumina Human610 Quad v1.0 DNA analysis BeadChip (Illumina) for 17 patients with moyamoya disease and 3 controls was carried out.…”

“…Patients with unilateral moyamoya disease can be difficult to treat, particularly regarding predicting the likelihood of subsequent progression to the contralateral side. The speed of progression of the vasculopathy associated with moymoya type vascular disease is extremely variable 5,10,12) . Copy number variation (CNV) refers to an intermediate-scale genomic change in segments greater than 1.0 kilo base pairs but typically less than 5 mega bases in length.…”

Rapid Progression of Unilateral Moyamoya Disease

“…3,5,6,9) We reviewed the literature regarding the time and prevalence of progression from unilateral MMD to bilateral MMD and the methods used to treat this lesion (Table 1). [1][2][3][4][5][6][7][8][10][11][12][13][14] The duration of progression of unilateral MMD to bilateral MMD varies. Hirotsune et al…”

“…Rapid progression of unilateral MMD to bilateral MMD has most frequently been reported in infants. [2][3][4][5][6]14) In this study, we report a case of rapid progression from unilateral MMD to bilateral involvement, and prudently assume that definite MMD results from unilateral MMD.…”