Isolated anterior cerebral artery occlusion: an atypical form of moyamoya disease

Autor: Dan Yu, Qian Zhang, Ri-Miao Yang, Zheng-Xing Zou, Xiao-Peng Wang, Lian Duan, Cong Han, Si-Meng Liu, Gan Gao, Fang-bin Hao, Shi-tong Liu, Hou-di Zhang, Min-Jie Wang, Qing-Bao Guo, He-guan Fu, Jing-Jie Li
Jazyk: angličtina
Předmět:
Zdroj: Stroke and Vascular Neurology, Vol , Iss
Druh dokumentu: article
ISSN: 2059-8696
DOI: 10.1136/svn-2023-002992
Popis: 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
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