Abstract

MOYAMOYA DISEASE: UNDERSTANDING THE SILENT CEREBROVASCULAR THREAT

R. Redlin Jani*, K. Aishwarya, Raveena Rajesh Kumar and J. Subiksha

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Abstract

Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis of the internal carotid artery (ICA) and its branches, leading to ischemia and hemorrhagic events. Although its precise etiology remains unclear, genetic and environmental factors play a role in the disease's development. Recent advances in diagnostic imaging, including dynamic susceptibilityweighted contrast-enhanced MRI, have improved the early detection and monitoring of MMD. Surgical revascularization techniques, such as direct and indirect revascularization, remain the primary treatment, although their long-term efficacy in preventing hemorrhagic events is still under investigation. Research into the disease’s genetic and epigenetic mechanisms, including non-coding RNAs and DNA methylation, holds promise for enhancing diagnostic accuracy and developing personalized treatment strategies. This review consolidates the current understanding of MMD’s genetic and epigenetic underpinnings, diagnostic challenges, and the future directions for clinical management.

Keywords: Moyamoya disease, Ischemia, Hemorrhage, RNF213 gene, Genetic factors, angiogenesis, Revascularization, Epigenetics, DNA methylation, Non-coding RNAs, cerebrovascular disorders, Vascular remodeling.