Etiology and pathogenesis of Moyamoya Disease: An update on disease prevalence

Huang, Shuo; Guo, Zhen‐Ni; Shi, Mingchao; Yang, Yi; Rao, Mingli

doi:10.1177/1747493017694393

Cited by 90 publications

(69 citation statements)

References 66 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The development of MMD is a result of interplay between genetic, inflammatory, and autoimmune factors . Patients with MMD were reported to show positivity of several autoantibodies or concomitantly have other autoimmune diseases including Grave’s disease, systemic lupus erythematosus, Sjogren’s syndrome, antiphospholipid antibody syndrome, and type 1 diabetes . Our patient with AQP4‐positive NMOSD further supports the role of autoimmune factors in MMD.…”

Section: Discussionsupporting

confidence: 77%

“…8,9 In fact, the two diseases share similar epidemiological features, with Asians and females more likely affected. 5,10 Genetic factors, therefore, may also explain the coexistence of the two diagnoses to some extent.…”

Section: Discussionmentioning

confidence: 99%

“…The exact etiology and pathogenesis of MMD remain largely unknown. 5 However, the coexistence with immunological diseases has been found among patients with MMD in recent reports. 6 But there are few reports of patients with both diseases.…”

Section: Moyamoya Disease Presenting As Thalamic Infarction In a Patimentioning

confidence: 99%

“…Cerebral ischemia and intracranial hemorrhage are two major hazards of the disease. The exact etiology and pathogenesis of MMD remain largely unknown . However, the coexistence with immunological diseases has been found among patients with MMD in recent reports .…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Moyamoya disease presenting as thalamic infarction in a patient with neuromyelitis optica spectrum disorder

et al. 2019

View full text Add to dashboard Cite

Section: Discussionsupporting

confidence: 77%

Section: Discussionmentioning

confidence: 99%

Section: Moyamoya Disease Presenting As Thalamic Infarction In a Patimentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Moyamoya disease presenting as thalamic infarction in a patient with neuromyelitis optica spectrum disorder

et al. 2019

View full text Add to dashboard Cite

“…Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease with an uncertain 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 [1][2][3]. It is a relatively important and common disease, especially in East Asian children [1][2][3]. Clinical experience and basic knowledge about MMD have increased considerably since 1969 when Suzuki and Takaku firstly reported this disease [4].…”

Section: Introductionmentioning

confidence: 99%

Electroencephalographic features in pediatric patients with moyamoya disease in China

et al. 2020

View full text Add to dashboard Cite

Background: Moyamoya disease (MMD) is a relatively important and common disease, especially in East Asian children. There are few reports about EEG in children with MMD in China till now. This study is aimed to analyze the electroencephalographic features of MMD in pediatric patients in China preliminarily. Methods: Pediatric patients with MMD who were hospitalized in Peking University International Hospital and Beijing Tiantan Hospital from January 2016 to December 2018 were collected. Clinical and electroencephalography (EEG) findings were analyzed retrospectively. Results: A total of 110 pediatric patients with MMD were involved, and 17 (15.5%) cases had a history of seizure or epilepsy. Ischemic stroke was associated with a 1.62-fold relative risk of seizure. A subset of 15 patients with complete EEG data was identified. Indications for EEG in patients with MMD included limb shaking, unilateral weakness, or generalized convulsion. Abnormal EEG was seen in 14 (93.3%) cases, with the most common findings being focal slowing 12 (80.0%), followed by epileptiform discharge 10 (66.7%), and diffuse slowing 9 (60.0%). "Rebuild up" phenomenon on EEG was observed in one patient. Conclusions: Seizure and abnormal background activity or epileptiform discharge on EEG were common in pediatric patients with MMD. EEG may play a role in differential diagnosis among the transient neurological events in MMD such as transient ischemic attack and seizure.

show abstract

DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease

et al. 2021

View full text Add to dashboard Cite

IMPORTANCE Moyamoya disease (MMD), a progressive vasculopathy leading to narrowing and ultimate occlusion of the intracranial internal carotid arteries, is a cause of childhood stroke. The cause of MMD is poorly understood, but genetic factors play a role. Several familial forms of MMD have been identified, but the cause of most cases remains elusive, especially among non-East Asian individuals. OBJECTIVE To assess whether ultrarare de novo and rare, damaging transmitted variants with large effect sizes are associated with MMD risk. DESIGN, SETTING, AND PARTICIPANTSA genetic association study was conducted using whole-exome sequencing case-parent MMD trios in a small discovery cohort collected over 3.5 years (2016)(2017)(2018)(2019); data were analyzed in 2020. Medical records from US hospitals spanning a range of 1 month to 1.5 years were reviewed for phenotyping. Exomes from a larger validation cohort were analyzed to identify additional rare, large-effect variants in the top candidate gene. Participants included patients with MMD and, when available, their parents. All participants who met criteria and were presented with the option to join the study agreed to do so; none were excluded. Twenty-four probands (22 trios and 2 singletons) composed the discovery cohort, and 84 probands (29 trios and 55 singletons) composed the validation cohort.MAIN OUTCOMES AND MEASURES Gene variants were identified and filtered using stringent criteria. Enrichment and case-control tests assessed gene-level variant burden. In silico modeling estimated the probability of variant association with protein structure. Integrative genomics assessed expression patterns of MMD risk genes derived from single-cell RNA sequencing data of human and mouse brain tissue. RESULTSOf the 24 patients in the discovery cohort, 14 (58.3%) were men and 18 (75.0%) were of European ancestry. Three of 24 discovery cohort probands contained 2 do novo (1-tailed Poisson P = 1.1 × 10 −6 ) and 1 rare, transmitted damaging variant (12.5% of cases) in DIAPH1 (mammalian diaphanous-1), a key regulator of actin remodeling in vascular cells and platelets. Four additional ultrarare damaging heterozygous DIAPH1 variants (3 unphased) were identified in 3 other patients in an 84-proband validation cohort (73.8% female, 77.4% European). All 6 patients were non-East Asian. Compound heterozygous variants were identified in ena/vasodilator-stimulated phosphoproteinlike protein EVL, a mammalian diaphanous-1 interactor that regulates actin polymerization. DIAPH1 and EVL mutant probands had severe, bilateral MMD associated with transfusion-dependent thrombocytopenia. DIAPH1 and other MMD risk genes are enriched in mural cells of midgestational human brain. The DIAPH1 coexpression network converges in vascular cell actin cytoskeleton regulatory pathways.CONCLUSIONS AND RELEVANCE These findings provide the largest collection to date of non-East Asian individuals with sporadic MMD harboring pathogenic variants in the same gene. The results suggest that DIAPH1 is a novel MMD risk...

show abstract

Etiology and pathogenesis of Moyamoya Disease: An update on disease prevalence

Cited by 90 publications

References 66 publications

Moyamoya disease presenting as thalamic infarction in a patient with neuromyelitis optica spectrum disorder

Moyamoya disease presenting as thalamic infarction in a patient with neuromyelitis optica spectrum disorder

Electroencephalographic features in pediatric patients with moyamoya disease in China

DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease

Contact Info

Product

Resources

About