Moyamoya Disease
Conditions
Keywords
Moyamoya Disease, RNF213 Variants, Collateral Vessels
Brief summary
The purpose of this study is to detect the association between RNF213 variants and collateral vessels in patients with moyamoya disease.
Detailed description
Moyamoya disease (MMD) is a chronic cerebrovascular disorder characterized by the presence of occlusion which occurs at the internal carotid arteries and their main branches during the development of a basal collateral network. The ring finger 213 (RNF213) was identified as a strong susceptibility gene in patients with MMD in East Asia. The role of RNF213 variants in pathogenesis of MMD is still unclear. Specific moyamoya vessels correlate with the onset of stroke. The purpose of this study is to investigate the relationship between RNF213 variants and collateral vessels in patients with moyamoya disease, and provide potential pathogenesis of moyamoya disease.
Interventions
Identification of genetic variants
Sponsors
Beijing Tiantan Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
4 Years to 60 Years
Healthy volunteers
No
Inclusion criteria
* Written informed consent is obtained * Patients with age between 4-60 years * Cerebral digital subtraction contrast angiography (DSA) reveal severe stenosis or occlusion of the distal internal carotid or proximal middle and anterior cerebral arteries with prominent lenticulostriate 'moyamoya collaterals'
Exclusion criteria
* There are other vascular diseases, including systemic vasculitis, neurofibroma, meningitis, sickle cell disease, down's syndrome, and previous basilar radiotherapy * Patients with cardiogenic embolism, including a history of atrial fibrillation, valvular disease or cardiac valve replacement * Physical or subjective failure to cooperate with the examination or serious comorbid diseases
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of RNF213 variants and different types of collateral vessels | Baseline |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Identification of serum biomarkers and different types of collateral vessels | Baseline | Hcy, HDL, LDL, ApoA, ApoB et al. |
| Identification of clinical characteristics and different types of collateral vessels | Baseline | Age, Gender, Clinical manifestations, Comorbidities, BMI et al. |
| Identification of RNF213 variants, serum biomarkers, clinical characteristics and different types of postoperative collateral vessels | 6-12 months | — |
Countries
China
Outcome results
None listed