Global Perspectives on Moyamoya Disease: Genetic Origins, Clinical Diversity and Innovations in Diagnosis and Surgical Management
Year: 2025
Type: article
Abstract: 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.
Author: Arnab Roy*1, Deep Jyoti Shah1, Abhinav Kumar1, Abhijit Kumar1, Shruti Kumari1, Niraj Kumar1, Abhinav Keshri1, Vivek Prajapati1, Mukti Oraon1, Pinky Kumari1, Divya Kumari1, Vishal Kumar1, Bharti Kumari1, Manvi Kumari1, Aliya Neshab1, Bunty Verma1, Rajni Mariyam Marandi1, Nikhil Kumar Sharma2
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7085696283
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