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The Lancet. Neurology Aug 2022Moyamoya disease is a rare cause of stroke, radiologically characterised by progressive stenosis of the terminal portion of the internal carotid arteries and... (Review)
Review
Moyamoya disease is a rare cause of stroke, radiologically characterised by progressive stenosis of the terminal portion of the internal carotid arteries and compensatory capillary collaterals. The discovery that RNF213, which encodes an unconventional E3 ubiquitin ligase, is the major susceptibility gene for moyamoya disease in people from east Asia has opened new avenues for investigation into the mechanisms of disease and potential treatment targets. The Arg4810Lys variant of the gene is most strongly associated with moyamoya disease, but the penetrance is lower than 1%, suggesting a synergistic relationship with additional environmental and genetic risk factors. White people carry less common non-Arg4810Lys variants of RNF213, which partly explains the lower prevalence of moyamoya disease in European countries and in the USA than in east Asian countries. Several monogenic moyamoya syndromes possess the radiological characteristics of moyamoya disease and have been associated with multiple genes and pathways involved in moyamoya angiopathy pathogenesis. Further clarification of the genetic and environmental factors that contribute to the emergence of moyamoya angiopathy could enable development of new treatment strategies for moyamoya disease.
Topics: Adenosine Triphosphatases; Genetic Predisposition to Disease; Humans; Moyamoya Disease; Ubiquitin-Protein Ligases
PubMed: 35605621
DOI: 10.1016/S1474-4422(22)00165-X -
Neurosurgical Review Apr 2020Moyamoya disease is characterized by progressive stenosis or occlusion of the intracranial portion of the internal carotid artery and their proximal branches, resulting... (Review)
Review
Moyamoya disease is characterized by progressive stenosis or occlusion of the intracranial portion of the internal carotid artery and their proximal branches, resulting in ischemic or hemorrhagic stroke with high rate of disability and even death. So far, available treatment strategies are quite limited, and novel intervention method is being explored. This review encapsulates current advances of moyamoya disease on the aspects of epidemiology, etiology, clinical features, imaging diagnosis and treatment. In addition, we also bring forward our conjecture, which needs to be testified by future research.
Topics: Humans; Moyamoya Disease; Neurosurgery; Neurosurgical Procedures
PubMed: 29911252
DOI: 10.1007/s10143-018-0994-5 -
Current Neuropharmacology 2022Moyamoya disease (MMD) is a chronic cerebrovascular disease characterized by progressive stenosis of the arteries of the circle of Willis, with the formation of... (Review)
Review
Moyamoya disease (MMD) is a chronic cerebrovascular disease characterized by progressive stenosis of the arteries of the circle of Willis, with the formation of collateral vascular network at the base of the brain. Its clinical manifestations are complicated. Numerous studies have attempted to clarify the clinical features of MMD, including its epidemiology, genetic characteristics, and pathophysiology. With the development of neuroimaging techniques, various neuroimaging modalities with different advantages have deepened the understanding of MMD in terms of structural, functional, spatial, and temporal dimensions. At present, the main treatment for MMD focuses on neurological protection, cerebral blood flow reconstruction, and neurological rehabilitation, such as pharmacological treatment, surgical revascularization, and cognitive rehabilitation. In this review, we discuss recent progress in understanding the clinical features, in the neuroimaging evaluation and treatment of MMD.
Topics: Brain; Disease Progression; Humans; Moyamoya Disease; Neuroimaging
PubMed: 34279201
DOI: 10.2174/1570159X19666210716114016 -
Stroke Oct 2023Adult moyamoya disease and syndrome are rare disorders with significant morbidity and mortality. A writing group of experts was selected to conduct a literature search,... (Review)
Review
Adult moyamoya disease and syndrome are rare disorders with significant morbidity and mortality. A writing group of experts was selected to conduct a literature search, summarize the current knowledge on the topic, and provide a road map for future investigation. The document presents an update in the definitions of moyamoya disease and syndrome, modern methods for diagnosis, and updated information on pathophysiology, epidemiology, and both medical and surgical treatment. Despite recent advancements, there are still many unresolved questions about moyamoya disease and syndrome, including lack of unified diagnostic criteria, reliable biomarkers, better understanding of the underlying pathophysiology, and stronger evidence for treatment guidelines. To advance progress in this area, it is crucial to acknowledge the limitations and weaknesses of current studies and explore new approaches, which are outlined in this scientific statement for future research strategies.
Topics: United States; Humans; Adult; American Heart Association; Moyamoya Disease; Stroke
PubMed: 37609846
DOI: 10.1161/STR.0000000000000443 -
Frontiers of Neurology and Neuroscience 2016Moyamoya disease (MMD) is a chronic occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an... (Review)
Review
Moyamoya disease (MMD) is a chronic occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology is unknown, recent genetic studies have identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. A c.14576G>A polymorphism in RNF213 was identified in 95% of MMD patients with a family history and in 79% of sporadic cases, and patients carrying this polymorphism exhibited significantly earlier disease onset and a more-severe form of MMD. Due possibly to genetic differences, the prevalence of MMD is higher in East Asia (e.g., Korea and Japan) than in Western countries. The MMD prevalence peaks at two ages with different clinical presentations: around 10 years and at 30-45 years. Ischemic symptoms, including transient ischemic attacks, are the most important clinical manifestation in both children and adults. Intracranial hemorrhages are more frequent in adults than in children. Catheter angiography is a diagnostic method of choice. Magnetic resonance angiography and computed tomography angiography are noninvasive diagnostic methods. High-resolution vessel-wall magnetic resonance imaging also helps in diagnosing MMD by revealing concentric vessel-wall narrowing with basal collaterals. Surgical revascularization such as extracranial-intracranial bypass is the preferred procedure for MMD patients presenting with ischemic stroke. Surgical therapy may also be effective in patients with hemorrhages, based on recent observations in the Japan Adult Moyamoya trial. Procedure-related cerebral infarction and hyperperfusion syndrome are potential complications that can lead to neurological deterioration.
Topics: Catheter Ablation; Humans; Moyamoya Disease; Neuroimaging
PubMed: 27960175
DOI: 10.1159/000448314 -
No Shinkei Geka. Neurological Surgery Nov 2022Treatment for moyamoya disease in infants and toddlers is challenging, because of the progressiveness of the disease. Revascularization surgery is the first-line therapy... (Review)
Review
Treatment for moyamoya disease in infants and toddlers is challenging, because of the progressiveness of the disease. Revascularization surgery is the first-line therapy and should be performed as early as possible after diagnosis to prevent additional cerebral infarction. This review describes in detail the changes in the new "Diagnostic Criteria 2021 for moyamoya disease", and discusses the concept of treatment including indirect and combined bypass surgery in infants and toddlers. Surgical technique and perioperative management based on our experience are also precisely described.
Topics: Child, Preschool; Humans; Moyamoya Disease; Cerebral Revascularization; Cerebral Infarction
PubMed: 36426527
DOI: 10.11477/mf.1436204693 -
World Neurosurgery Feb 2019Pregnancy is a potential risk factor for stroke in women with Moyamoya disease. However, the rarity of the disease has limited clinical expertise to ensure a healthy... (Review)
Review
BACKGROUND
Pregnancy is a potential risk factor for stroke in women with Moyamoya disease. However, the rarity of the disease has limited clinical expertise to ensure a healthy pregnancy. The aim of the present study was to explore the possible risk factors for hemorrhagic and ischemic stroke in pregnant women with Moyamoya disease.
METHODS
A retrospective review of cases in our hospital during a 20-year period and a review of the reported data were conducted to investigate pregnancy-related cerebrovascular events in women with Moyamoya disease.
RESULTS
Thirty pregnancies in 20 women with Moyamoya disease were identified in the case review of our hospital. All were previously diagnosed cases, and no stroke had occurred during the study period. In the reported data review, pregnancy-related stroke in women with Moyamoya disease was identified in 54 (44 intracranial hemorrhage and 10 cerebral infarction). Intracranial hemorrhage occurred most commonly during the antepartum period (n = 39; 88.6%), with most events occurring at ≥24 weeks. Of the intracranial hemorrhage cases, 7 (15.9%) were complicated by hypertensive disorders of pregnancy, and 8 patients (18.2%) died of stroke. The onset of cerebral infarction was either in the antepartum (n = 4; 40.0%) or postpartum (n = 6; 60.0%) period. All postpartum cases occurred within 3-7 days after delivery.
CONCLUSION
Pregnancy-related stroke in patients with Moyamoya disease might be susceptible to gestational age. Intracranial hemorrhage is prone to occur during the antepartum period, especially at ≥24 weeks, and cerebral infarction tends to occur postpartum.
Topics: Adult; Female; Humans; Moyamoya Disease; Pregnancy; Pregnancy Complications; Retrospective Studies; Time Factors; Young Adult
PubMed: 30347298
DOI: 10.1016/j.wneu.2018.10.071 -
No Shinkei Geka. Neurological Surgery Mar 2021In this educational article for young neurosurgeons, the author highlights the characteristic CT and MRI findings for diagnosing moyamoya disease. The author also...
In this educational article for young neurosurgeons, the author highlights the characteristic CT and MRI findings for diagnosing moyamoya disease. The author also provides guidelines for the systematic interpretation of angiographic findings in patients with moyamoya disease.
Topics: Cerebral Angiography; Humans; Magnetic Resonance Imaging; Moyamoya Disease
PubMed: 33762446
DOI: 10.11477/mf.1436204387 -
Child's Nervous System : ChNS :... Aug 1988The authors reviewed the Japanese literature on moyamoya disease. In the article we discuss the history of such investigations in Japan, the signs and symptoms, the... (Review)
Review
The authors reviewed the Japanese literature on moyamoya disease. In the article we discuss the history of such investigations in Japan, the signs and symptoms, the diagnosis (especially concerning diagnostic criteria and magnetic resonance imaging), the pathology in relation to its etiology, and the current methods of treatment. On the whole, the main aim of the paper was to introduce our concept of moyamoya disease that is now current in Japan.
Topics: Adolescent; Adult; Arterial Occlusive Diseases; Child; Humans; Japan; Magnetic Resonance Imaging; Moyamoya Disease; Prognosis
PubMed: 3048657
DOI: 10.1007/BF00270916 -
Frontiers in Endocrinology 2023Moyamoya disease (MMD), also known as abnormal cerebral vascular network disease, is characterized by progressive occlusion or stenosis of the internal carotid and... (Review)
Review
Moyamoya disease (MMD), also known as abnormal cerebral vascular network disease, is characterized by progressive occlusion or stenosis of the internal carotid and cerebral arteries, as well as the formation of an abnormal cerebral vascular network. It can occur anywhere in the world but is most common in China, Japan, and the Republic of Korea. In recent years, there have been increasing reports on the coexistence of thyroid diseases and MMD, but the mechanism of their coexistence is still unclear. For this article, we used keywords such as "moyamoya disease", "thyroid", "Grave disease", "thyrotoxicosis", and "thyroid autoimmune antibodies" to search for 52 articles that met the requirements in medical databases such as PubMed and Web of Science. This article also reviews the research on the role of thyroid hormone, the mechanism of immune antibodies, the possible correlation between thyroid diseases and MMD disease genes, and the treatment methods, and discusses the possible relationship between MMD and thyroid diseases to provide a reference for the pathogenesis and treatment of MMD with thyroid diseases.
Topics: Humans; Moyamoya Disease; Thyroid Diseases; Thyrotoxicosis; Japan
PubMed: 37900127
DOI: 10.3389/fendo.2023.1233567