Stroke Events and Risk Factors in Older Patients with Moyamoya Disease.

We aimed to comprehensively analyze the epidemiology, natural history, stroke events and their risk factors, and the RNF213 p.Arg4810Lys variant in older patients with moyamoya disease (MMD). We enrolled patients with MMD followed-up at our hospital between 2000 and 2023. Those who developed MMD at age ≥60 years or were diagnosed at a younger age and followed-up after age 60 years were included. Baseline characteristics, onset type, radiologic features, and RNF213 p.Arg4810Lys variant status were investigated. Among 56 patients with 100 affected hemispheres, 62 were asymptomatic, 26 experienced ischemic onset, and 12 had hemorrhagic onset. A higher incidence of anterior choroidal artery (AchA) dilatation and lower proportion of favorable modified Rankin scale scores were detected in hemorrhagic onset, whereas greater prevalence of bypass surgery in ischemic onset. Of 76 asymptomatic hemispheres at the age of 60 years, subsequent stroke events occurred in 10 hemispheres, comprising 8 hemorrhages and 2 ischemias. Risk factors for de novo hemorrhage in asymptomatic hemispheres included AchA dilatation and choroidal anastomosis. Comparison of the RNF213 p.Arg4810Lys variant status showed no significant differences in baseline characteristics, onset types, or imaging findings, except for a higher percentage of patients in the GA group with a family history of MMD. Hemorrhagic events were the most prevalent and prognostically deteriorating factors in older patients with MMD aged ≥60 years. AchA dilatation and choroidal anastomosis were predictors of de novo hemorrhage in asymptomatic nonsurgical hemispheres in older patients with MMD.

Hirano Y ，Miyawaki S ，Imai H ，Hongo H ，Kiyofuji S ，Torazawa S ，Koizumi S ，Miyazawa R ，Saito N ... -  《-》

Association of rare variants in RNF213 with severe progression of intracranial artery stenosis in quasi-moyamoya disease.

Torazawa S ，Miyawaki S ，Imai H ，Hongo H ，Ishigami D ，Shimizu M ，Sakai Y ，Ogawa S ，Kiyofuji S ，Koizumi S ，Komura D ，Katoh H ，Ono H ，Nakatomi H ，Ishikawa S ，Saito N ... -  《-》

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

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. 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. 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. 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.

Liu SM ，Gao G ，Hao FB ，Liu ST ，Yang RM ，Zhang HD ，Wang MJ ，Zou ZX ，Yu D ，Zhang Q ，Guo QB ，Wang XP ，Fu HG ，Li JJ ，Han C ，Duan L ... -  《-》

Outcomes of Bypass Surgery in Adult Moyamoya Disease by Onset Type.

Lim YC ，Lee E ，Song J 《JAMA Network Open》

Stroke-Related Outcomes in Moyamoya Disease Compared with Moyamoya Syndromes: A Propensity-Matched Analysis.

Moyamoya syndrome (MMS) is a subset of moyamoya disease (MMD) with a systemic comorbidity. Due to the lack of direct comparisons between various MMS subgroups and their MMD counterparts, we aimed to analyze differences in stroke-related outcomes between MMS subgroups and patients with MMD through propensity score matching (PSM). We analyzed the National Inpatient Sample (NIS) from 2011 to 2020 for patients with MMD and common MMS-related comorbidities: Down syndrome (DS), sickle-cell disease (SCD), and type 1 neurofibromatosis (NF1). PSM was performed to match patients of each MMS subgroup to patients with MMD only, controlling for stroke risk factors. Rates of ischemic strokes, hemorrhagic strokes, and transient ischemic attacks (TIAs) were evaluated after matching. A total of 10,652 patients with a moyamoya diagnosis were identified: 7971 with MMD only, 2202 with MMS-SCD, 162 with MMS-NF1, and 317 with MMS-DS. PSM for MMD only and MMS-SCD resulted in 630 matched pairs. After matching, univariate analysis showed that patients with MMS-SCD had significantly lower rates of ischemic strokes (8.9% vs. 17.9%; P = 0.001), hemorrhagic strokes (5.1% vs. 8.1%; P = 0.031), and TIAs (2.2% vs. 4.6%; P = 0.020) than did patients with MMD only. For the MMS-DS subgroup, 92 matched pairs showed significantly lower rates of TIAs than did patients with MMD only (0% vs. 6.5%; P = 0.013). Comparing 54 matched pairs of patients with MMD only and patients with MMS-NF1 showed no significant differences in stroke-related outcomes. Patients with MMS-SCD had significantly lower rates of acute ischemic stroke, hemorrhagic stroke, and TIA compared with patients with MMD only. Future research should consider the source of these differences in improving stroke prevention in patients with MMD.

Wadhwa A ，Han K ，Ramirez-Velandia F ，Alwakaa O ，Riordan C ，McNeil E ，Granstein JH ，Taussky P ，Enriquez-Marulanda A ，Ogilvy CS ... -  《-》