Materiały źródłowe

• #1 Moyamoya disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/moyamoya-disease/symptoms-causes/syc-20355586

  In moyamoya disease, arteries to the brain become narrow and may even close, leading to reduced delivery of oxygen-rich blood to the brain. This lack of blood flow to the brain can cause a stroke and other symptoms. […] The exact cause of moyamoya disease isn’t known. Moyamoya disease is most commonly seen in Japan, Korea and China. But it also happens in other parts of the world. Because moyamoya disease is most common in these Asian countries, researchers believe this strongly suggests a genetic factor in some populations. […] Sometimes changes to the blood vessels, known as vascular changes, can happen that mimic moyamoya disease. These changes may have different causes and symptoms. This is known as moyamoya syndrome. […] Moyamoya syndrome can be linked to certain conditions, such as Down syndrome, sickle cell anemia, neurofibromatosis type 1 and hyperthyroidism.

• #1 Moyamoya Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/1180952-overview

  Moyamoya disease is a progressive, occlusive disease of the cerebral vasculature with particular involvement of the circle of Willis and the arteries that feed it. […] The cause of moyamoya disease is not known. The disease is believed to be genetic. Fukui reported a family history in 10% of patients with the disorder. Moreover, Mineharu suggested that familial moyamoya disease is autosomal dominant with incomplete penetrance that depends on age and genomic imprinting factors. […] Genetically, susceptibility loci have been found on 3p, 6p, 17q, and band 8q23. Mineharu et al have found a specific gene locus, q25.3, on chromosome 17. […] A genome-wide association study identified RNF213 as the first gene associated with moyamoya. […] One meta-analysis demonstrated that there are strong associations between p.R4859K and p.R4810K polymorphisms of the RNF213 gene and moyamoya disease.

• #1 Moyamoya disease – Wikipedia

  https://en.wikipedia.org/wiki/Moyamoya_disease

  Moyamoya disease is a disease in which certain arteries in the brain are constricted. Blood flow is blocked by constriction and blood clots (thrombosis). […] About 10% of cases of moyamoya disease are familial, and some cases result from specific genetic mutations. Susceptibility to moyamoya disease-2 (MYMY2; 607151) is caused by variation in the RNF213 gene (613768) on the long arm of chromosome 17 (17q25). Moyamoya disease-5 (MYMY5; 614042) is caused by mutation in the ACTA2 gene (102620) on the long arm of chromosome 10 (10q23.3); and moyamoya disease-6 with achalasia (MYMY6; 615750) is caused by mutation in the GUCY1A3 gene (139396) on the long arm of chromosome 4 (4q32). […] Moyamoya disease can be either congenital or acquired. Patients with Down syndrome, sickle cell anemia, neurofibromatosis type 1, congenital heart disease, fibromuscular dysplasia, activated protein C resistance, or head trauma can develop moyamoya malformations.

• #1 Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis – UpToDate

  https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis

  Moyamoya is an uncommon cerebrovascular condition characterized by the progressive narrowing of large intracranial arteries around the circle of Willis and the secondary development of prominent small-vessel collaterals. These collateral vessels produce a characteristic “smoky” appearance on digital subtraction angiography (DSA), which was first called „moyamoya,” a Japanese word meaning puffy, obscure, or hazy like a puff of smoke in the air. The progressive vascular changes in moyamoya may lead to ischemic stroke or intracranial hemorrhage in children and adults. […] This topic will review the etiologies, clinical features, and diagnosis of moyamoya. […] Moyamoya disease (MMD) is a condition characterized by the occurrence of moyamoya angiographic findings along with associated genetic susceptibilities but no underlying contributing medical conditions. MMD may also be called primary or idiopathic moyamoya as well and may also be referred to descriptively as the „spontaneous occlusion of the circle of Willis.” […] Moyamoya syndrome (MMS) is a condition characterized by the occurrence of moyamoya angiographic findings along with an associated medical condition implicated in the development of vascular changes.

• #1 Moyamoya Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK535455/

  Moyamoya disease (MMD) is an isolated chronic, usually bilateral, vasculopathy of undetermined etiology characterized by progressive narrowing of the terminal intracranial portion of the internal carotid artery and circle of Willis. […] MMD is an isolated chronic, usually bilateral, vasculopathy of undetermined etiology characterized by progressive narrowing of the terminal intracranial portion of the internal carotid artery (ICA) and circle of Willis. […] Inherited conditions and/or association: Sickle Cell Disease or trait, Down Syndrome (Association), Neurofibromatosis type 1 (Association). […] Acquired conditions: Head and/or neck irradiation, Chronic meningitis, Skull base tumor, Atherosclerosis of skull base arteries, Arteriosclerosis, Cerebral vasculitis. […] The pathophysiology of MMD remains unclear, though genetic predisposition is theorized in East Asian countries. Mutations in BRCC3/MTCP1 and GUCY1A3 genes are implicated in Moyamoya syndrome.

• #1 Moyamoya disease | STROKE MANUAL

  https://www.stroke-manual.com/moyamoya-disease/

  idiopathic with possible inherited abnormalities (several mutations have already been described) […] known inherited disorders associated with moyamoya angiopathy (e.g., Grange syndrome, ACTA2 mutations, etc.) […] moyamoya syndrome acquired conditions […] vasculitis […] atherosclerosis (typically involving the carotid siphon with pronounced calcifications) […] radiation-induced angiopathy […] fibromuscular dysplasia (FMD) […] sickle cell disease (SCD) […] aplastic anemia […] parasellar tumors […] dissecting/saccular aneurysms […] arteriovenous malformations […] Systemic Lupus Erythematosus (SLE) […] immunologic diseases (such as Graves disease and Hashimotos thyroiditis) [Kim, 2010] […] infections (leptospirosis, tuberculosis)

• #1 Moyamoya syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/moyamoya-syndrome-1?lang=us

  Moyamoya syndrome, also termed moyamoya pattern or phenomenon or angiopathy, is due to numerous conditions that can cause arterial occlusion of the circle of Willis, with resultant collaterals, and appearances reminiscent of moyamoya disease. […] These conditions include vessel wall abnormalities, phakomatoses, connective tissue disorders, blood dyscrasias, infection, and less common causes. […] Vessel wall abnormalities include intracranial atherosclerotic disease, radiation induced vasculopathy, fibromuscular dysplasia, Marfan syndrome, and Ehlers-Danlos syndrome. […] Blood dyscrasias include sickle cell disease, essential thrombocytopenia, polycythemia rubra vera, aplastic anemia, and Fanconi anemia. […] Infection can be due to tuberculous meningitis, bacterial meningitis, post-varicella vasculitis, and leptospirosis. […] Less common causes include Graves disease, Down syndrome, ulcerative colitis, Apert syndrome, and oral contraceptive use.

• #1 Moyamoya Disease | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/moyamoya-disease.html

  Moyamoya disease is a rare, progressive disorder that causes a blockage to the main blood vessels serving the brain as they enter the skull. […] The cause of moyamoya disease is unknown. The narrowing of the brain’s blood vessels may be due to injuries or genetic abnormalities. There may be some links between the condition and neurofibromatosis, or to procedures such as X-rays of the skull or heart surgery, or treatments such as chemotherapy. […] Moyamoya disease is most commonly diagnosed in children, but it can affect adults as well. There appears to be a higher rate of incidence in Japan and other Asian countries; however cases have been diagnosed in the United States, Europe, Australia and Africa.

• #1 Moyamoya disease – Wikipedia

  https://en.wikipedia.org/wiki/Moyamoya_disease

  The disease causes constrictions primarily in the internal carotid artery, and often extends to the middle and anterior cerebral arteries, branches of the internal carotid artery inside the skull. […] The arterial constrictions in moyamoya disease are unlike the constrictions in atherosclerosis. In atherosclerosis, the walls of arteries are damaged, leading to the deposition of fat and immune cells, and ultimately the accumulation of immune cells laden with fat. In moyamoya, the inner layer of the carotid artery proliferates within the arterial lumen. […] The disease moyamoya, which is a Japanese mimetic word, gets its characteristic name due to the appearance of smoke on relevant angiographs resultant from the tangle of tiny vessels in response to stenosis. […] The research into the pathogenesis of moyamoya disease has found a breakthrough with the proposal of a „Mechano-biological theory” of pathogenesis of this disease.

• #1 Moyamoya Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK535455/

  Chronic brain ischemia resulting from the narrowing is believed to be causing an overexpression of proangiogenic factors (fibroblast growth factor and hepatocyte growth factor) which, in turn, would cause the development of a fragile network of collateral vessels. […] Factors that may show a poor prognosis could be but not limited to: hemorrhagic strokes at presentation, female gender, familial form of onset and pediatric age of onset.

• #1 Moyamoya disease | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/moyamoya-disease-1?lang=us

  Moyamoya disease is an idiopathic, non-inflammatory, non-atherosclerotic progressive vaso-occlusive disease involving the terminal supraclinoid internal carotid arteries and circle of Willis. […] The underlying pathological and genetic basis for moyamoya disease is not well understood. Fibrocellular proliferation and thickening of the intima is the main process responsible for vascular stenosis and occlusion. The associated neo-vascularization may be a compensatory mechanism or part of the disease process itself, with the moyamoya vessels demonstrating various histopathological abnormalities including fibrin deposition, microaneurysm formation, among other abnormalities. […] RNF213 has been identified as a susceptibility gene.

• #1 Moyamoya Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/1180952-overview

  People with moyamoya disease have been found to have a higher incidence of elevated thyroid antibodies. […] While this is an association in some individuals, the significance is not clear. However, it suggests that immune abnormalities and several others as listed below may play some role in moyamoya disease.

• #1 SciELO Brazil – Moyamoya disease and syndrome: a review Moyamoya disease and syndrome: a review

  https://www.scielo.br/j/rb/a/RnSpk536gD9rhd3QX7HykHj/

  A genetic contribution is suspected on the basis of the familial cases observed and the aforementioned strong link with ethnicity. […] In East Asian populations, the ring finger protein 213 on 17q25.3 is considered to be a susceptibility gene for MMD, ring finger protein 213 variant p.R4810K being strongly associated with familial MMD in Japan, China and Korea. […] Autoimmune responses have been implicated as the underlying mechanism of MMD. […] Plasma inflammatory factors, including interleukin-1 beta, monocyte chemoattractant protein-1, and stromal cell-derived factor-1 alpha, have been found to be elevated in patients with MMD, suggesting immune-mediated inflammation as a contributing factor in this equation. […] Furthermore, the role of immunological and inflammatory mediators in the pathogenesis of MMD includes abnormal IgG deposition into elastic layers and infiltration by T cells, macrophages, and S100A4-positive smooth muscle cells in the intimal layer.

• #1 Moyamoya Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17244-moyamoya-disease

  Moyamoya disease is a type of cerebrovascular disease a condition that affects the blood vessels in your brain. […] Researchers dont know the exact causes of moyamoya disease. But there appear to be genetic and acquired forms of the condition. […] Researchers have discovered mutations, or changes, in one gene RNF213 that may be responsible for at least some cases of moyamoya disease. […] As many as 15% of people of Japanese descent with moyamoya disease have one or more biological family members with the condition. […] Moyamoya disease is rare. Although the genetic forms occur mostly in people of Japanese ancestry, healthcare providers see it more and more in people from other ethnic backgrounds. […] For reasons that scientists dont understand, moyamoya disease is two times more common in females.

• #1 Moyamoya Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17244-moyamoya-disease

  You can get moyamoya disease at any age, but youre more likely to get it if youre between five and 10 years old or between 30 and 50 years old. […] Sometimes, moyamoya disease occurs with other conditions and is called moyamoya syndrome or phenomenon. Examples of these other conditions include: Down syndrome, Graves disease, Neurofibromatosis type 1, Sickle cell disease, Atherosclerosis.

• #1 Moyamoya disease | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/moyamoya-disease

  Family history of moyamoya disease. If you have a family member with moyamoya disease, your risk of having the condition is 30 to 40 times higher than that of the general population. This strongly suggests a genetic link. […] Medical conditions. Moyamoya syndrome sometimes happens with other disorders, including neurofibromatosis type 1, sickle cell disease and Down syndrome, among many others.

• #1 What Is Moyamoya Disease?

  https://www.webmd.com/brain/moyamoya-disease

  Age. Moyamoya disease can occur at any age. Its most common in kids between 5 and 15 years old. Adults can get it, too, but thats less common. Those who do have moyamoya disease are often diagnosed between 30 and 50 years old. […] Theres some research into earlier detection methods. A recently discovered urinary panel may be helpful in young people.

• #1 Moyamoya Disease

  https://practicalneurology.com/diseases-diagnoses/stroke/moyamoya-disease/31617/

  Moyamoya disease is a cerebrovascular condition characterized by idiopathic chronic progressive steno-occlusive changes of the terminal portions and proximal branches of the internal carotid arteries (ICAs). […] Recently, it has become increasingly apparent that the term moyamoya encompasses many different arteriopathies with distinct genetic and environmental drivers that share a common end-stage radiographic appearance. […] A family history was present in 10% to 15% of people from Japan with moyamoya and in 3% to 6% of people from western countries. […] Indeed, the ethnicity pattern and familial penetration suggest that genetic predisposition plays a major role in moyamoya disease. […] Although most pediatric moyamoya cases are idiopathic, there are population-based patterns. Historically, Asian ancestry is an increased risk factor for moyamoya, with up to 56% of Asian-Americans with moyamoya harboring a specific mutation of RNF213.

• #1 Genetics of Moyamoya disease | Journal of Human Genetics

  https://www.nature.com/articles/jhg2010103

  MMD has also been reported in patients with other diseases of known genetic origin, such as neurofibromatosis type I and Down syndrome, among others, highlighting the evidence for a possible genetic etiology for this severe disease. […] The concentration of affected patients in Asian countries, as well as published familial cases strengthens the hypothesis that genetics have a role in the development of the disease. […] Genetic studies have been performed in Japanese and Korean cohorts without convincing evidence for a genetic basis, and while linkage studies have suggested 17q25 as a region of interest, subsequent attempts to identify a single causal gene have failed. […] The rarity of MMD and likely multifactorial nature of the disease poses a tremendous challenge in the search for a disease-causing gene.

• #2 Moyamoya Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK535455/

  Moyamoya disease (MMD) is an isolated chronic, usually bilateral, vasculopathy of undetermined etiology characterized by progressive narrowing of the terminal intracranial portion of the internal carotid artery and circle of Willis. […] MMD is an isolated chronic, usually bilateral, vasculopathy of undetermined etiology characterized by progressive narrowing of the terminal intracranial portion of the internal carotid artery (ICA) and circle of Willis. […] Inherited conditions and/or association: Sickle Cell Disease or trait, Down Syndrome (Association), Neurofibromatosis type 1 (Association). […] Acquired conditions: Head and/or neck irradiation, Chronic meningitis, Skull base tumor, Atherosclerosis of skull base arteries, Arteriosclerosis, Cerebral vasculitis. […] The pathophysiology of MMD remains unclear, though genetic predisposition is theorized in East Asian countries. Mutations in BRCC3/MTCP1 and GUCY1A3 genes are implicated in Moyamoya syndrome.

• #2 Moyamoya Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17244-moyamoya-disease

  Moyamoya disease is a type of cerebrovascular disease a condition that affects the blood vessels in your brain. […] Researchers dont know the exact causes of moyamoya disease. But there appear to be genetic and acquired forms of the condition. […] Researchers have discovered mutations, or changes, in one gene RNF213 that may be responsible for at least some cases of moyamoya disease. […] As many as 15% of people of Japanese descent with moyamoya disease have one or more biological family members with the condition. […] Moyamoya disease is rare. Although the genetic forms occur mostly in people of Japanese ancestry, healthcare providers see it more and more in people from other ethnic backgrounds. […] For reasons that scientists dont understand, moyamoya disease is two times more common in females.

• #2 Moyamoya disease: Causes, symptoms, diagnosis and treatments | Health – Hindustan Times

  https://www.hindustantimes.com/lifestyle/health/moyamoya-disease-causes-symptoms-diagnosis-and-treatments-101675228288905.html

  A polymorphism in RNF213 variant p.R4810K is being strongly associated with familial MMD and is identified in 95% of familial patients with MMD and 79% of sporadic cases. This genetic abnormality correlates with the early-onset and severe forms of MMD thus serving as a predictive good biomarker. […] According to Dr VR Roopesh Kumar, Moyamoya disease (MMD) is a chronic progressive cerebral angiopathy involving anterior circulation characterised by bilateral stenosis internal carotid arteries (ICA) and its proximal branches with development of a fine network of abnormal compensatory collateral vessels subsequently. […] When such vasculopathy is associated with any secondary causes like down syndrome, cranial irradiation, sickle cell disease, neurofibromatosis type etc, it is termed as Moyamoya Syndrome (MMS).

• #2 What is Moyamoya Disease? | Barrow Neurological InstituteSecond Opinion IconGroup 49Group 49

  https://www.barrowneuro.org/condition/moyamoya-disease/

  The cause of moyamoya disease is unknown, although genetic and environmental factors are thought to be involved. […] Between six percent and 12 percent of patients with moyamoya disease have a family history of the condition. […] Abnormalities on chromosomes 3, 6, 8, and 17 have been linked to familial (inherited) moyamoya disease. […] Moreover, a specific abnormality in a gene that codes for a smooth muscle protein called alpha actin (ACTA2) has been found in patients with familial (inherited) and nonfamilial (uninherited) forms of moyamoya disease. […] This ACTA2 abnormality is called a susceptibility gene for moyamoya disease and is also linked to early onset coronary artery disease. […] Between six percent and 12 percent of moyamoya disease cases are considered familial, meaning that a first-degree relative of yours (i.e., your parents, your siblings, or your children) also will have the condition.

• #2 Moyamoya Disease, Basic Concepts of Diagnostics, and Treatment | SpringerLink

  https://link.springer.com/chapter/10.1007/978-981-10-8950-3_26

  It is also reported that autosomal dominant inheritance may play a role up to 15% of MMD patients, and some genome are widely studied from the family who carry the inheritance of MMD. The result shows some association with certain chromosomal regions including 3p24.2-p26, 6q25, 8q23, 12p12, and 17q25.

• #2 Moyamoya disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/moyamoya-disease/

  Up to 15 percent of Japanese people with moyamoya disease have one or more family members with the condition, indicating that the condition can be passed through generations in families; however, the inheritance pattern is unknown. Research suggests that the condition follows an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, some people who have a copy of the altered gene never develop the condition, which is a situation known as reduced penetrance.

• #2 Moyamoya disease and moyamoya syndrome: Etiology, clinical features, and diagnosis – UpToDate

  https://www.uptodate.com/contents/moyamoya-disease-and-moyamoya-syndrome-etiology-clinical-features-and-diagnosis/print

  Moyamoya disease (MMD) is a condition characterized by the occurrence of moyamoya angiographic findings along with associated genetic susceptibilities but no underlying contributing medical conditions. MMD may also be called primary or idiopathic moyamoya as well and may also be referred to descriptively as the „spontaneous occlusion of the circle of Willis.” […] Moyamoya syndrome (MMS) is a condition characterized by the occurrence of moyamoya angiographic findings along with an associated medical condition implicated in the development of vascular changes.

• #2 Moyamoya Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17244-moyamoya-disease

  You can get moyamoya disease at any age, but youre more likely to get it if youre between five and 10 years old or between 30 and 50 years old. […] Sometimes, moyamoya disease occurs with other conditions and is called moyamoya syndrome or phenomenon. Examples of these other conditions include: Down syndrome, Graves disease, Neurofibromatosis type 1, Sickle cell disease, Atherosclerosis.

• #2 Is Moyamoya Disease Curable?

  https://www.emedicinehealth.com/is_moyamoya_disease_curable/article_em.htm

  Moyamoya is a genetic disease that results in blocked arteries to the brain. […] The cause of Moyamoya disease is unknown but it is believed to be genetic, along with possible immune abnormalities. […] Other possible causes of Moyamoya disease include: injuries, heart surgery, chemotherapy, neurofibromatosis (genetic disorder of the nervous system), procedures such as X-rays of the skull. […] Moyamoya syndrome may occur as a secondary disorder in association with other conditions, such as: infections such as leptospirosis and tuberculosis, autoimmune conditions such as Lupus and thyroid disorders, heart disease, high blood pressure (hypertension), vascular disease, hardening of the arteries (atherosclerosis), blood disorders such as sickle cell disease or beta thalassemia, connective tissue disorders such as von Recklinghausen disease (neurofibromatosis type 1) or tuberous sclerosis, metabolic diseases, Graves disease, chromosome disorders, head trauma, radiation therapy of the brain, brain tumors, congenital disorders such as Down syndrome, Williams syndrome, Marfan syndrome, Turner syndrome, Hirschsprung disease.

• #2 Moyamoya disease | STROKE MANUAL

  https://www.stroke-manual.com/moyamoya-disease/

  idiopathic with possible inherited abnormalities (several mutations have already been described) […] known inherited disorders associated with moyamoya angiopathy (e.g., Grange syndrome, ACTA2 mutations, etc.) […] moyamoya syndrome acquired conditions […] vasculitis […] atherosclerosis (typically involving the carotid siphon with pronounced calcifications) […] radiation-induced angiopathy […] fibromuscular dysplasia (FMD) […] sickle cell disease (SCD) […] aplastic anemia […] parasellar tumors […] dissecting/saccular aneurysms […] arteriovenous malformations […] Systemic Lupus Erythematosus (SLE) […] immunologic diseases (such as Graves disease and Hashimotos thyroiditis) [Kim, 2010] […] infections (leptospirosis, tuberculosis)

• #2 Moyamoya Disease Causes, Symptoms, Treatment, Surgery

  https://www.medicinenet.com/moyamoya_disease/article.htm

  Moyamoya disease (MMD) is a rare, progressive cerebrovascular disease that causes stenosis or a blockage to one or both of the primary blood vessels (internal carotid arteries) that supply the brain as they enter the skull. […] The cause of Moyamoya disease is unknown. It is believed there may be a genetic factor, as up to 15 percent of Japanese people with Moyamoya have family members with the condition. […] The cause of Moyamoya disease is unknown. In some cases, there appears to be a genetic factor and the disease seems to run in families. Other possible causes of Moyamoya disease include: Injuries, Neurofibromatosis (nf), Procedures such as X-rays of the skull, Heart surgery, Chemotherapy, Moyamoya syndrome is a secondary disorder that may occur in association with some conditions, such as: Infections, Atherosclerosis, Heart disease, Vasculitis, Blood disorders (such as sickle cell disease or beta thalassemia), Autoimmune conditions (such as Lupus, thyroid disorders, Sneddon syndrome), Connective tissue disorders (such as neurofibromatosis type 1 or Tuberous sclerosis), Chromosome disorders, Metabolic diseases, Head trauma, Radiation therapy of the brain, Brain tumors, Down syndrome or Williams syndrome. […] Without surgery, most patients with Moyamoya disease will suffer from multiple strokes and a mental decline because of the progressive narrowing of arteries. If left untreated, Moyamoya disease can be fatal as the result of intracerebral hemorrhage (bleeding within the brain).

• #2 Moyamoya disease | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/moyamoya-disease-1?lang=us

  Moyamoya disease is an idiopathic, non-inflammatory, non-atherosclerotic progressive vaso-occlusive disease involving the terminal supraclinoid internal carotid arteries and circle of Willis. […] The underlying pathological and genetic basis for moyamoya disease is not well understood. Fibrocellular proliferation and thickening of the intima is the main process responsible for vascular stenosis and occlusion. The associated neo-vascularization may be a compensatory mechanism or part of the disease process itself, with the moyamoya vessels demonstrating various histopathological abnormalities including fibrin deposition, microaneurysm formation, among other abnormalities. […] RNF213 has been identified as a susceptibility gene.

• #2 Moyamoya Disease, Basic Concepts of Diagnostics, and Treatment | SpringerLink

  https://link.springer.com/chapter/10.1007/978-981-10-8950-3_26

  Moyamoya disease (MMD) is a rare condition where the supraclinoid part of internal carotid artery is slowly and progressively becoming stenotic, and also it often involves both middle cerebral arteries and anterior cerebral arteries. […] Its etiology still remains unknown. The moyamoya syndrome (MMS) has similar clinical and angiographic characteristics to MMD but might be associated with Downs syndrome, neurofibromatosis type 1 (NF-1), prior irradiation, and sickle-cell disease. […] It has been reported that the aneurysm formation might be associated with over-expression of several growth factors such as matrix metalloproteinases (MMPs), hypoxia-inducible factor 1 (HIF-1), vascular endothelial growth factor (VEGF), basic fibroblast growth factor (bFGF), transforming growth factor-beta (TGF-beta), and hepatocyte growth factor (HGF).

• #2 Moyamoya Disease

  https://practicalneurology.com/diseases-diagnoses/stroke/moyamoya-disease/31617/

  Moyamoya disease is a cerebrovascular condition characterized by idiopathic chronic progressive steno-occlusive changes of the terminal portions and proximal branches of the internal carotid arteries (ICAs). […] Recently, it has become increasingly apparent that the term moyamoya encompasses many different arteriopathies with distinct genetic and environmental drivers that share a common end-stage radiographic appearance. […] A family history was present in 10% to 15% of people from Japan with moyamoya and in 3% to 6% of people from western countries. […] Indeed, the ethnicity pattern and familial penetration suggest that genetic predisposition plays a major role in moyamoya disease. […] Although most pediatric moyamoya cases are idiopathic, there are population-based patterns. Historically, Asian ancestry is an increased risk factor for moyamoya, with up to 56% of Asian-Americans with moyamoya harboring a specific mutation of RNF213.

• #2 Moyamoya Disease | University of Michigan Health

  https://www.uofmhealth.org/conditions-treatments/brain-neurological-conditions/moyamoya-disease

  Moyamoya disease is a chronic, progressive cerebrovascular disease that affects the blood vessels in your brain. More specifically, the internal carotid arteries become narrowed or blocked. […] There are genetic forms of moyamoya that occur most commonly in patients of Asian ancestry, but the disease is being diagnosed more and more in patients of all ethnicities. […] For reasons unknown, moyamoya disease is two times more common in patients assigned female at birth compared to those assigned male at birth.

• #2 What Is Moyamoya Disease?

  https://www.webmd.com/brain/moyamoya-disease

  Age. Moyamoya disease can occur at any age. Its most common in kids between 5 and 15 years old. Adults can get it, too, but thats less common. Those who do have moyamoya disease are often diagnosed between 30 and 50 years old. […] Theres some research into earlier detection methods. A recently discovered urinary panel may be helpful in young people.

• #2 Moyamoya Disease: Causes, Symptoms, Risk Factors, Diagnosis

  https://www.prepladder.com/neet-pg-study-material/medicine/moyamoya-disease-causes-symptoms-risk-factors-diagnosis-treatment-and-complications

  Moyamoya disease is an uncommon blood vessel ailment that results in constriction or obstruction of the carotid artery in the head. […] The disease moyamoya exists throughout the world. Nonetheless, the prevalence is higher in East Asian countries, including China, Japan, and Korea. This could be due to some genetic factors present in those populations. […] Researchers say that the increased frequency in various Asian countries strongly suggests that some populations have a genetic component. […] A hereditary history of Moyamoya disease: If any member of your family has Moyamoya disease, you are 30 to 40 times more likely to get the illness than the general population. This unequivocally indicates a genetic component. […] Sometimes, a number of diseases, including neurofibromatosis type 1, sickle cell disease, and Down syndrome, coexist with moyamoya syndrome.

• #2 Moyamoya Disease

  https://practicalneurology.com/diseases-diagnoses/stroke/moyamoya-disease/31617/

  In contrast, only 3.6% to 29% of non-Asian individuals with moyamoya harbor RNF213 mutations. […] Current moyamoya-associated mutations are noted in Box 2. […] Moyamoya represents a constellation of arteriopathies that vary in genetic and environmental drivers but share a common end-pathway of progressive internal carotid artery narrowing and collateral development that leads to stroke if untreated.

• #3 Moyamoya Disease | Causes, Symptoms & Treatment

  https://www.cincinnatichildrens.org/health/m/moyamoya

  Moyamoya disease is a rare but very serious condition affecting one or both of the internal carotid arteries. These arteries are located at the base of the brain. Moyamoya disease causes them to become narrowed over time. This restricts blood flow to the brain. As a result, blood clots may form, and the risk of having a stroke, mini-stroke or seizure may increase. […] Researchers are still trying to understand what causes Moyamoya disease. Some believe that an inherited, defective blood vessel may cause the disease. The cause may also be related to associated conditions, including Down syndrome and sickle cell disease, among others.

• #3 Moyamoya Disease

  https://practicalneurology.com/diseases-diagnoses/stroke/moyamoya-disease/31617/

  Moyamoya disease is a cerebrovascular condition characterized by idiopathic chronic progressive steno-occlusive changes of the terminal portions and proximal branches of the internal carotid arteries (ICAs). […] Recently, it has become increasingly apparent that the term moyamoya encompasses many different arteriopathies with distinct genetic and environmental drivers that share a common end-stage radiographic appearance. […] A family history was present in 10% to 15% of people from Japan with moyamoya and in 3% to 6% of people from western countries. […] Indeed, the ethnicity pattern and familial penetration suggest that genetic predisposition plays a major role in moyamoya disease. […] Although most pediatric moyamoya cases are idiopathic, there are population-based patterns. Historically, Asian ancestry is an increased risk factor for moyamoya, with up to 56% of Asian-Americans with moyamoya harboring a specific mutation of RNF213.

• #3 Is Moyamoya Disease Curable?

  https://www.emedicinehealth.com/is_moyamoya_disease_curable/article_em.htm

  Moyamoya is a genetic disease that results in blocked arteries to the brain. […] The cause of Moyamoya disease is unknown but it is believed to be genetic, along with possible immune abnormalities. […] Other possible causes of Moyamoya disease include: injuries, heart surgery, chemotherapy, neurofibromatosis (genetic disorder of the nervous system), procedures such as X-rays of the skull. […] Moyamoya syndrome may occur as a secondary disorder in association with other conditions, such as: infections such as leptospirosis and tuberculosis, autoimmune conditions such as Lupus and thyroid disorders, heart disease, high blood pressure (hypertension), vascular disease, hardening of the arteries (atherosclerosis), blood disorders such as sickle cell disease or beta thalassemia, connective tissue disorders such as von Recklinghausen disease (neurofibromatosis type 1) or tuberous sclerosis, metabolic diseases, Graves disease, chromosome disorders, head trauma, radiation therapy of the brain, brain tumors, congenital disorders such as Down syndrome, Williams syndrome, Marfan syndrome, Turner syndrome, Hirschsprung disease.

• #3 SciELO Brazil – Moyamoya disease and syndrome: a review Moyamoya disease and syndrome: a review

  https://www.scielo.br/j/rb/a/RnSpk536gD9rhd3QX7HykHj/

  Moyamoya disease is a chronic occlusive cerebrovascular disease that is non-inflammatory and non-atherosclerotic. It is characterized by endothelial hyperplasia and fibrosis of the intracranial portion of the carotid artery and its proximal branches, leading to progressive stenosis and occlusion, often clinically manifesting as ischemic or hemorrhagic stroke with high rates of morbidity and mortality. […] Despite many advances, the exact pathophysiological triggers and precise timeframe of the progression of MMD remain unknown, although lines of evidence have indicated pathogenic pathways as diverse as those of angiogenesis, genetics, the immune system, and inflammation. […] The pathogenesis of MMD has been associated with several angiogenesis-related factors, such as endothelial colony-forming cells and cytokines, including vascular endothelial growth factor, transforming growth factor beta 1, basic fibroblast growth factor, and hepatocyte growth factor.

• #4 Moyamoya disease – Wikipedia

  https://en.wikipedia.org/wiki/Moyamoya_disease

  The disease causes constrictions primarily in the internal carotid artery, and often extends to the middle and anterior cerebral arteries, branches of the internal carotid artery inside the skull. […] The arterial constrictions in moyamoya disease are unlike the constrictions in atherosclerosis. In atherosclerosis, the walls of arteries are damaged, leading to the deposition of fat and immune cells, and ultimately the accumulation of immune cells laden with fat. In moyamoya, the inner layer of the carotid artery proliferates within the arterial lumen. […] The disease moyamoya, which is a Japanese mimetic word, gets its characteristic name due to the appearance of smoke on relevant angiographs resultant from the tangle of tiny vessels in response to stenosis. […] The research into the pathogenesis of moyamoya disease has found a breakthrough with the proposal of a „Mechano-biological theory” of pathogenesis of this disease.

• #4 Moyamoya Disease Causes, Symptoms, Treatment, Surgery

  https://www.medicinenet.com/moyamoya_disease/article.htm

  Moyamoya disease (MMD) is a rare, progressive cerebrovascular disease that causes stenosis or a blockage to one or both of the primary blood vessels (internal carotid arteries) that supply the brain as they enter the skull. […] The cause of Moyamoya disease is unknown. It is believed there may be a genetic factor, as up to 15 percent of Japanese people with Moyamoya have family members with the condition. […] The cause of Moyamoya disease is unknown. In some cases, there appears to be a genetic factor and the disease seems to run in families. Other possible causes of Moyamoya disease include: Injuries, Neurofibromatosis (nf), Procedures such as X-rays of the skull, Heart surgery, Chemotherapy, Moyamoya syndrome is a secondary disorder that may occur in association with some conditions, such as: Infections, Atherosclerosis, Heart disease, Vasculitis, Blood disorders (such as sickle cell disease or beta thalassemia), Autoimmune conditions (such as Lupus, thyroid disorders, Sneddon syndrome), Connective tissue disorders (such as neurofibromatosis type 1 or Tuberous sclerosis), Chromosome disorders, Metabolic diseases, Head trauma, Radiation therapy of the brain, Brain tumors, Down syndrome or Williams syndrome. […] Without surgery, most patients with Moyamoya disease will suffer from multiple strokes and a mental decline because of the progressive narrowing of arteries. If left untreated, Moyamoya disease can be fatal as the result of intracerebral hemorrhage (bleeding within the brain).

• #4 Moyamoya Disease

  https://practicalneurology.com/diseases-diagnoses/stroke/moyamoya-disease/31617/

  In contrast, only 3.6% to 29% of non-Asian individuals with moyamoya harbor RNF213 mutations. […] Current moyamoya-associated mutations are noted in Box 2. […] Moyamoya represents a constellation of arteriopathies that vary in genetic and environmental drivers but share a common end-pathway of progressive internal carotid artery narrowing and collateral development that leads to stroke if untreated.

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