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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 -
Trends in Molecular Medicine Nov 2022Moyamoya disease (MMD) is a rare cerebrovascular disorder with unknown etiology. MMD is characterized by progressive narrowing of arteries of the brain and the formation... (Review)
Review
Moyamoya disease (MMD) is a rare cerebrovascular disorder with unknown etiology. MMD is characterized by progressive narrowing of arteries of the brain and the formation of a compensatory network of fragile vessels. Genetic studies have identified RNF213, also known as mysterin, as a susceptibility gene for MMD, but the low penetrance in genetically susceptible individuals suggests that a second hit is necessary to trigger disease onset. Recently, several molecular studies uncovered RNF213 as a key antimicrobial protein with important functions in the immune system. In addition, an increasing number of clinical reports describe the development of moyamoya angiopathy (MMA) associated with infection or autoimmune disorders. Together, this growing body of molecular and clinical evidence points towards immune-related responses as second hits to trigger MMD onset.
Topics: Humans; Moyamoya Disease; Adenosine Triphosphatases; Ubiquitin-Protein Ligases; Genetic Predisposition to Disease; Transcription Factors
PubMed: 36115805
DOI: 10.1016/j.molmed.2022.08.009 -
Translational Stroke Research Feb 2022Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive spontaneous bilateral occlusion of the intracranial internal cerebral arteries... (Review)
Review
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive spontaneous bilateral occlusion of the intracranial internal cerebral arteries (ICA) and their major branches with compensatory capillary collaterals resembling a "puff of smoke" (Japanese: Moyamoya) on cerebral angiography. These pathological alterations of the vessels are called Moyamoya arteriopathy or vasculopathy and a further distinction is made between primary and secondary MMD. Clinical presentation depends on age and population, with hemorrhage and ischemic infarcts in particular leading to severe neurological dysfunction or even death. Although the diagnostic suspicion can be posed by MRA or CTA, cerebral angiography is mandatory for diagnostic confirmation. Since no therapy to limit the stenotic lesions or the development of a collateral network is available, the only treatment established so far is surgical revascularization. The pathophysiology still remains unknown. Due to the early age of onset, familial cases and the variable incidence rate between different ethnic groups, the focus was put on genetic aspects early on. Several genetic risk loci as well as individual risk genes have been reported; however, few of them could be replicated in independent series. Linkage studies revealed linkage to the 17q25 locus. Multiple studies on the association of SNPs and MMD have been conducted, mainly focussing on the endothelium, smooth muscle cells, cytokines and growth factors. A variant of the RNF213 gene was shown to be strongly associated with MMD with a founder effect in the East Asian population. Although it is unknown how mutations in the RNF213 gene, encoding for a ubiquitously expressed 591 kDa cytosolic protein, lead to clinical features of MMD, RNF213 has been confirmed as a susceptibility gene in several studies with a gene dosage-dependent clinical phenotype, allowing preventive screening and possibly the development of new therapeutic approaches. This review focuses on the genetic basis of primary MMD only.
Topics: Adenosine Triphosphatases; Genetic Predisposition to Disease; Humans; Moyamoya Disease; Ubiquitin-Protein Ligases
PubMed: 34529262
DOI: 10.1007/s12975-021-00940-2 -
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 -
Neurologia Medico-chirurgica Apr 2022
Topics: Cerebral Revascularization; Humans; Japan; Moyamoya Disease; Stroke; Treatment Outcome
PubMed: 35197402
DOI: 10.2176/jns-nmc.2021-0382 -
Scientific Reports Jul 2023Moyamoya disease (MMD) is a chronic and progressive cerebrovascular stenosis or occlusive disease that occurs near Willis blood vessels. The aim of this study was to...
Moyamoya disease (MMD) is a chronic and progressive cerebrovascular stenosis or occlusive disease that occurs near Willis blood vessels. The aim of this study was to investigate the mutation of DIAPH1 in Asian population, and to compare the angiographic features of MMD patients with and without the mutation of the DIAPH1 gene. Blood samples of 50 patients with MMD were collected, and DIAPH1 gene mutation was detected. The angiographic involvement of the posterior cerebral artery was compared between the mutant group and the non-mutant group. The independent risk factors of posterior cerebral artery involvement were determined by multivariate logistic regression analysis. DIAPH1 gene mutation was detected in 9 (18%) of 50 patients, including 7 synonymous mutations and 2 missense mutations. However, the incidence of posterior cerebral artery involvement in mutation positive group was very higher than that in mutation negative group (77.8% versus 12%; p = 0.001). There is an association between DIAPH1 mutation and PCA involvement (odds ratio 29.483, 95% confidence interval 3.920-221.736; p = 0.001). DIAPH1 gene mutation is not a major genetic risk gene for Asian patients with moyamoya disease but may play an important role in the involvement of posterior cerebral artery.
Topics: Humans; Moyamoya Disease; Posterior Cerebral Artery; Cerebral Angiography; Cerebrovascular Circulation; Formins
PubMed: 37400591
DOI: 10.1038/s41598-023-37665-1 -
The Neuroradiology Journal Dec 2021The neural crest is a transient structure present in early embryogenesis. Cephalic neural crest cells migrate into the pharyngeal arches and the frontonasal process that... (Review)
Review
BACKGROUND
The neural crest is a transient structure present in early embryogenesis. Cephalic neural crest cells migrate into the pharyngeal arches and the frontonasal process that becomes the forehead and midfacial structures. They also contribute to forming the media of the arteries of the circle of Willis and their branches. The cardiac neural crest produces vascular smooth muscle cells in the ascending aorta, cardiac septum and coronary arteries.
METHODS
In this review, we evaluate the role of the neural crest in moyamoya disease and the pathological implications from the concurrence of moyamoya disease and cardiovascular diseases from the point of view of neural crest cell distributions.
RESULTS
Midline craniofacial and central nervous system anomalies with eye anomalies, morning glory disc anomaly in patients with moyamoya disease can both be explained as a subtype of cephalic neurocristopathy. Further, the association between moyamoya disease and cardiac manifestations (congenital cardiac defects and coronary artery disease) have also been reported. Both the cephalic neural crest and cardiac neural crest contribute to these concurrent arterial diseases, as cardio-cephalic neurocristopathy.
CONCLUSION
The concept of cephalic/cardio-cephalic neurocristopathy provides a new perspective to understanding the underlying aetiological associations and to developing future therapeutic approaches for concomitant moyamoya disease and cardiovascular diseases.
Topics: Cardiovascular Diseases; Humans; Moyamoya Disease; Neural Crest
PubMed: 34078151
DOI: 10.1177/19714009211021780 -
International Journal of Molecular... Feb 2021Moyamoya disease (MMD) is a cerebrovascular disease that presents with vascular stenosis and a hazy network of collateral formations in angiography. However, the... (Review)
Review
Moyamoya disease (MMD) is a cerebrovascular disease that presents with vascular stenosis and a hazy network of collateral formations in angiography. However, the detailed pathogenic pathway remains unknown. Studies have indicated that in addition to variations in the of genetic factor , unusual circulating angiogenetic factors observed in patients with MMD may play a critical role in producing "Moyamoya vessels". Circulating angiogenetic factors, such as growth factors, vascular progenitor cells, cytokines, inflammatory factors, and other circulating proteins, could promote intimal hyperplasia in vessels and excessive collateral formation with defect structures through endothelial hyperplasia, smooth muscle migration, and atypical neovascularization. This study summarizes the hypothesized pathophysiology of how these circulating factors affect MMD and the interactive modulation between them.
Topics: Animals; Biomarkers; Humans; Moyamoya Disease; Neovascularization, Pathologic
PubMed: 33567654
DOI: 10.3390/ijms22041696 -
Neurologia Oct 2021Moyamoya disease (MD) is a progressive, occlusive disease of the arteries of the anterior cerebral circulation that may cause ischaemia or haemorrhage. Patient...
INTRODUCTION
Moyamoya disease (MD) is a progressive, occlusive disease of the arteries of the anterior cerebral circulation that may cause ischaemia or haemorrhage. Patient management aims to prevent new cerebrovascular events through surgical revascularisation and/or pharmacological treatment.
MATERIALS AND METHODS
We studied a series of 17 patients with MD (n = 14) or moyamoya syndrome (MS; n = 3), who were evaluated between January 1989 and December 2016; 11 patients were women and 6 were men. Thirteen patients had definitive MD (76%), one had unilateral MD (5.2%), and 3 had MS (18%). The condition manifested as intraparenchymal haemorrhage (in 35.2% of patients), brain ischaemia (29.4%), subarachnoid haemorrhage (17.6%), seizures (11.7%), and headache with no associated haemorrhage (1 patient).
RESULTS
Ten patients (58.8%) underwent revascularisation and 7 (41.2%) received pharmacological treatment. All patients were evaluated with the modified Rankin Scale (mRs) at admission and at the last consultation; mRs scores were significantly lower in the group undergoing surgery (P < .04). During follow-up, none of the patients undergoing revascularisation experienced recurrences, whereas 2 patients receiving pharmacological treatment did experience a new vascular event (one ischaemic and one haemorrhagic) (P < .05). No significant differences were observed between the treatment outcomes of different revascularisation techniques.
CONCLUSIONS
Although our population has different demographic characteristics from those of other non-Asian populations, ours is the largest published series of Hispanic individuals with MD. Our results support the use of revascularisation procedures to improve these patients' neurological status and to prevent new cerebrovascular events.
Topics: Brain Ischemia; Cerebral Revascularization; Cerebrovascular Circulation; Female; Humans; Male; Mexico; Moyamoya Disease
PubMed: 34654535
DOI: 10.1016/j.nrleng.2020.08.002 -
Neurologia Medico-chirurgica 2015Moyamoya disease is a chronic, occlusive cerebrovascular disease with unknown etiology characterized by bilateral steno-occlusive changes at the terminal portion of the... (Review)
Review
Moyamoya disease is a chronic, occlusive cerebrovascular disease with unknown etiology characterized by bilateral steno-occlusive changes at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. These diagnostic criteria of the moyamoya disease, stated by the Research Committee on Spontaneous Occlusion of the Circle of Willis (moyamoya disease) in Japan, are well established and generally accepted as the definition of this rare entity. On the contrary to the diagnosis of definitive moyamoya disease, there is some confusion in the terminology and understanding of quasi-moyamoya disease; moyamoya disease in association with various disease entities, such as atherosclerosis, autoimmune diseases, Down syndrome, etc. Although the clinical management is not affected by these semantic distinctions, terminological confusion may interfere with the international collaboration of the clinical investigation of these rare conditions. In this article, we sought to review the international standard and regional differences in the diagnosis of moyamoya disease and quasi-moyamoya disease.
Topics: Humans; Moyamoya Disease
PubMed: 25739428
DOI: 10.2176/nmc.ra.2014-0307