Angiographic characteristics in Moyamoya disease with the p.R4810K variant: a propensity score-matched analysis
P Ge1,2,3,4,5, Q Zhang1,2,3,4,5, X Ye1,2,3,4,5
1Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Background And Purpose:
The p.R4810K variant was identified as a strong susceptibility in patients with Moyamoya disease (MMD). The aim of this study was to investigate the angiographic characteristics in MMD with the p.R4810K variant.
Methods:
Angiographic characteristics were compared between patients with wild-type p.R4810K variant (GG) and patients with heterozygous p.R4810K variant (GA) after 1:1 propensity score matching, including Suzuki stage, collateral circulation and external carotid artery (ECA) collateral. Collateral circulation was graded with scores ranging from 0 to 12: posterior collateral circulation from the posterior cerebral artery to the middle cerebral artery and anterior cerebral artery was scored from 0 to 6; anterior collateral circulation was scored as 6 to 0 corresponding to Suzuki stages 0 to 6.
Results:
A total of 489 patients were screened; 133 pairs were obtained after 1:1 propensity score matching. Compared with the patients in the GA group, unilateral MMD was more frequent in the GG group (P = 0.026). Hemispheres in the GA group (86/266) had more posterior cerebral artery involvement than hemispheres in the GG group (48/266) (P < 0.001). Hemispheres in the GA group had a lower grade in collateral circulation than hemispheres in the GG group (P = 0.011), but ECA collateral was more frequently observed in the GA group than in the GG group (53.4% vs. 39.8%, P = 0.002). Superficial temporal artery and occipital artery collateral was more frequently observed in the GA group than in the GG group (P < 0.05).
Conclusions:
Patients in the GA group had lower grades in collateral circulation than patients in the GG group, but ECA collateral was more frequently observed in the GA group than in the GG group.
Insights
The p.R4810K variant influences Moyamoya disease (MMD) progression. Heterozygous carriers (GA) show distinct angiographic features, including less collateral circulation but more external carotid artery involvement compared to wild-type (GG) MMD patients.
Area of Science:
- Genetics and Neurology
- Vascular Diseases
Background:
- Moyamoya disease (MMD) is a rare cerebrovascular disorder.
- The p.R4810K variant has been identified as a significant genetic susceptibility factor in MMD patients.
Purpose of the Study:
- To investigate the specific angiographic characteristics associated with the p.R4810K variant in Moyamoya disease patients.
- To compare vascular features between MMD patients with wild-type p.R4810K (GG) and heterozygous p.R4810K (GA) variants.
Main Methods:
- A cohort of 489 patients with Moyamoya disease were screened.
- 133 pairs of patients were matched using propensity score matching (1:1 ratio) based on the p.R4810K variant status (GG vs. GA).
- Angiographic features, including Suzuki stage, collateral circulation (graded 0-12), and external carotid artery (ECA) collateral, were analyzed and compared between the two groups.
Main Results:
- Unilateral MMD was more prevalent in the GG group compared to the GA group (P=0.026).
- The GA group exhibited significantly more posterior cerebral artery involvement (86/266 hemispheres) than the GG group (48/266 hemispheres) (P<0.001).
- While the GA group showed lower overall collateral circulation grades (P=0.011), they had a higher frequency of external carotid artery (ECA) collateral (53.4% vs. 39.8%, P=0.002), including superficial temporal and occipital artery collaterals.
Conclusions:
- MMD patients with the heterozygous p.R4810K variant (GA) present with reduced overall collateral circulation compared to wild-type (GG) patients.
- External carotid artery (ECA) collateralization is more frequently observed in MMD patients carrying the heterozygous p.R4810K variant.
