Moyamoya Disease research updates in adults
Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by the narrowing or occlusion of the arteries at the base of the brain, specifically the internal carotid arteries and their branches. This condition leads to the development of a network of tiny collateral vessels that attempt to compensate for reduced blood flow, giving a “puff of smoke” appearance on angiographic imaging—hence the name “moyamoya,” which means “hazy” or “puff of smoke” in Japanese. While traditionally considered a pediatric disease, moyamoya also significantly affects adults, presenting unique challenges and opportunities for ongoing research.
In recent years, research into moyamoya disease in adults has expanded, driven by advances in neuroimaging, genetics, and surgical techniques. One of the key areas of investigation is understanding the disease’s underlying pathophysiology. Although the exact cause remains elusive, genetic studies have identified mutations, particularly in the RNF213 gene, which seem to predispose individuals to the disease. These genetic insights have opened new avenues for exploring targeted therapies and early diagnosis, especially in adult populations where the disease may present differently than in children.
Clinically, moyamoya in adults often manifests with ischemic strokes, transient ischemic attacks (TIAs), or hemorrhagic strokes. Hemorrhagic events are more prevalent among adults than children, possibly due to the rupture of fragile collateral vessels or aneurysms that develop over time. Recognizing these patterns has prompted researchers to refine diagnostic criteria and improve imaging techniques such as high-resolution magnetic resonance angiography (MRA) and digital subtraction angiography (DSA). These tools enable detailed visualization of arterial stenosis and collateral formations, facilitating early detection and risk stratification.
Surgical revascularization remains the mainstay treatment for moyamoya in adults. Recent research emphasizes the importance of individualized surgical strategies, such as direct bypass procedures like superficial temporal artery to middle cerebral artery (STA-MCA) anastomosis, and indirect methods like encephaloduroarteriosynangiosis (EDAS). Studies have shown that timely surgical intervention can significantly reduce the risk of recurrent strokes and improve quality of life. Moreover, ongoing trials are comparing the efficacy of different surgical techniques and exploring minimally invasive approaches to optimize outcomes and reduce perioperative risks.
Beyond surgery, medical management continues to evolve. Researchers are investigating medications that could stabilize or slow disease progression, including antiplatelet agents and agents targeting angiogenesis. However, the role of pharmacotherapy remains adjunctive, with surgical revascularization being the cornerstone for preventing ischemic and hemorrhagic events. Additionally, studies are exploring the impact of lifestyle factors and comorbidities—such as hypertension and hyperlipidemia—on disease progression and outcomes.
The future of moyamoya research in adults lies in integrating genetic, imaging, and clinical data to develop personalized treatment plans. Advances in neuroimaging and biomarker discovery may enable earlier diagnosis and risk prediction, while ongoing clinical trials aim to refine surgical techniques and optimize postoperative care. As our understanding deepens, the hope is to improve prognosis, reduce stroke recurrence, and enhance the quality of life for adult patients living with moyamoya disease.
Overall, the research landscape is dynamic, with multidisciplinary efforts promising to translate scientific discoveries into meaningful clinical improvements. Continued collaboration across neurology, neurosurgery, genetics, and radiology is essential to unravel the complexities of moyamoya disease in adults and to develop targeted, effective therapies.
