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Infections in Moyamoya Phenomenon: Current Evidence and Future Horizons-Narrative Review
Sheng Wang1,2, Qian Jiang1,2, Yuan Liu1,2
1Department of Neurosurgery, Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology, Wuhan, People's Republic of China.
Abstract:
Moyamoya Disease (MMD) is a progressive cerebrovascular disorder characterized by the stenosis or occlusion of the terminal portions of the internal carotid arteries and fragile collateral vessel formation. While its etiology remains elusive, emerging evidence strongly implicates infections as key environmental triggers, particularly through immune-mediated vascular injury and interactions with genetic susceptibility (eg, RNF213 variants). This review explores the current understanding of the relationship between infections and MMD, examines epidemiological data, molecular and immunological mechanisms, genetic predispositions, and specific infections implicated in the disease. Critical limitations include causality ambiguity from reliance on anecdotal reports, methodological heterogeneity across studies, and mechanistic gaps in validating infection-endothelial dysfunction relationships. Future research must prioritize prospective cohorts and therapeutic strategies targeting infection-responsive pathways.
Insights
Infections may trigger Moyamoya Disease (MMD), a rare brain vessel disorder, especially in genetically susceptible individuals. Further research is needed to confirm this link and develop targeted treatments.
Area of Science:
- Neurology
- Immunology
- Genetics
Background:
- Moyamoya Disease (MMD) is a progressive cerebrovascular disorder.
- It involves stenosis/occlusion of internal carotid arteries and fragile collateral vessels.
- The exact cause of MMD is unknown, but infections are suspected triggers.
Purpose of the Study:
- To review the current understanding of the link between infections and MMD.
- To examine epidemiological, molecular, immunological, and genetic factors.
- To identify specific infections implicated in MMD.
Main Methods:
- Review of existing literature on infections and MMD.
- Analysis of epidemiological data.
- Exploration of molecular and immunological mechanisms.
- Examination of genetic predispositions, including RNF213 variants.
Main Results:
- Emerging evidence suggests infections act as environmental triggers for MMD.
- Immune-mediated vascular injury and genetic susceptibility (e.g., RNF213 variants) play a role.
- Limitations include ambiguity in causality and mechanistic gaps.
Conclusions:
- Infections are strongly implicated as key environmental triggers in MMD.
- Future research should focus on prospective studies and therapies targeting infection-responsive pathways.
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