New classification of occlusive cerebrovascular diseases by combining diagnostic imaging and genetic analysis of RNF213

The aim of the study is to unravel the genetic and environmental background of moyamoya disease and to understand the pathophysiology of the disease by utilizing radiological evaluations. We will identify susceptibility genes other than RNF213. We also assess whether genetics affects radiological characteristics including collateral development, tortuosity of the main trunk of the arteries and the extent of stenosis. Environmental factors will be evaluated such as feces, urea, and cerebrospinal fluid.

• Type: Case-Control
• Archiver: Japanese Genotype-phenotype Archive (JGA)