Global Perspectives on Moyamoya Disease: Genetic Origins, Clinical Diversity and Innovations in Diagnosis and Surgical Management

Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis of the internal carotid arteries and their proximal branches, leading to the formation of characteristic collateral vessels that appear as a "puff of smoke" on angiography. This comprehensive review examines the global perspectives on MMD, focusing on its genetic underpinnings, diverse clinical presentations across different populations, and recent advances in diagnostic and surgical management approaches. The disease shows significant geographical and ethnic variations, with the highest prevalence observed in East Asian populations, particularly in Japan and Korea. Recent genetic studies have identified multiple susceptibility loci, including RNF213, ACTA2, and GUCY1A3, which contribute to our understanding of disease pathogenesis. Clinical manifestations vary considerably between pediatric and adult populations, with children typically presenting with ischemic symptoms and adults more commonly experiencing hemorrhagic complications. Diagnostic approaches have evolved with advanced neuroimaging techniques, including high-resolution MRI and computational fluid dynamics modeling. Surgical management strategies, particularly direct and indirect revascularization procedures, have shown significant improvements in patient outcomes. This review synthesizes current knowledge on MMD from a global perspective, highlighting regional differences in disease characteristics and management approaches while identifying areas for future research and collaborative efforts.