Isolated anterior cerebral artery occlusion: an atypical form of moyamoya disease
Si-Meng Liu1,2,3, Gan Gao1,2,3, Fang-Bin Hao1,2,3
1Department of Neurosurgery, the First Medical Center of Chinese PLA General Hospital, Beijing, China.
Background:
The relationship between anterior cerebral artery (ACA) occlusion and moyamoya disease (MMD) has rarely been studied. In this study, we focused on a special type of MMD: isolated ACA-occlusive MMD. We investigated clinical attributes, genotypes and progression risk factors in patients with ACA-occlusive MMD, providing initial insights into the relationship between ACA occlusion and MMD.
Methods:
We retrospectively analysed digital subtraction angiography (DSA) from 2486 patients and diagnosed 139 patients with ACA-occlusive MMD. RNF213 p.R4810K (rs112735431) mutation analysis was performed. Patients were categorised into progression and non-progression groups based on whether they progressed to typical MMD. Differences in clinical characteristics, neuropsychological assessment, radiological findings and genotypes were evaluated. Logistic regression analyses identified risk factors for ACA-occlusive MMD progression.
Results:
The median age of patients with ACA-occlusive MMD was 36 years, and the primary symptom was transient ischaemic attack (TIA). 72.3% of ACA-occlusive MMD patients had cognitive decline. Of 116 patients who underwent RNF213 gene mutation analysis, 90 patients (77.6%) carried the RNF213 p.R4810K GG allele and 26 (22.4%) carried the GA allele. Of 102 patients with follow-up DSA data, 40 patients (39.2%) progressed. Kaplan-Meier curve estimates indicated a higher incidence of ischaemic stroke in the progression group during follow-up (p=0.035). Younger age (p=0.041), RNF213 p.R4810K GA genotype (p=0.037) and poor collateral compensation from the middle cerebral artery (MCA) to ACA (p<0.001) were risk factors of ACA-occlusive MMD progression to typical MMD.
Conclusions:
Cognitive decline and TIA might be the main manifestations of ACA-occlusive MMD. Isolated ACA occlusion may be an early signal of MMD. The initial lesion site of MMD is not strictly confined to the terminal portion of the internal carotid artery. Younger patients, patients with RNF213 p.R4810K GA genotype or those with inadequate MCA-to-ACA compensation are more likely to develop typical MMD.
Insights
Isolated anterior cerebral artery (ACA) occlusion may signal early moyamoya disease (MMD). Younger age, specific RNF213 genotypes, and poor collateral compensation are risk factors for progression to typical MMD.
Area of Science:
- Neurology
- Vascular Neurology
- Genetics
Background:
- Moyamoya disease (MMD) and anterior cerebral artery (ACA) occlusion relationship is understudied.
- Focus on isolated ACA-occlusive MMD to understand its clinical attributes, genotypes, and progression.
- Provides insights into ACA occlusion's role in MMD development.
Purpose of the Study:
- Investigate clinical characteristics, genotypes, and progression risk factors in ACA-occlusive MMD.
- Determine if isolated ACA occlusion is an early indicator of MMD.
- Identify factors predicting progression to typical MMD.
Main Methods:
- Retrospective analysis of digital subtraction angiography (DSA) in 2486 patients, identifying 139 with ACA-occlusive MMD.
- RNF213 p.R4810K mutation analysis performed on patients.
- Logistic regression used to identify risk factors for progression to typical MMD.
Main Results:
- Median age of 36 years, with transient ischemic attack (TIA) as the primary symptom.
- 72.3% of patients experienced cognitive decline; 39.2% progressed to typical MMD.
- Younger age, RNF213 p.R4810K GA genotype, and inadequate MCA-to-ACA collateral compensation were significant progression risk factors.
Conclusions:
- Cognitive decline and TIA are key indicators of ACA-occlusive MMD.
- Isolated ACA occlusion may represent an early stage of MMD.
- Younger patients, specific RNF213 genotypes, and poor collateral status increase the likelihood of developing typical MMD.
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