Search Results (60)

Background and Clinical Significance: Marfan syndrome (MFS) is an autosomal-dominant connective-tissue disorder caused by pathogenic FBN1 variants. Aortic-root dilation and dissection are the canonical complications, whereas spontaneous vertebral artery dissection (VAD) is described only sporadically. Yet, cerebrovascular events are several-fold more common in MFS, and up to 74% of patients exhibit increased vertebral artery tortuosity, a validated predictor of dissection; Case Presentation: A 32-year-old African man with hypertension, type 2 diabetes mellitus, tobacco use, and headaches labelled as migraine presented with acute agitation, visual disturbance, vertigo, dysarthria, and right-sided weakness of two hours’ duration. Examination disclosed previously unrecognised marfanoid stigmata: arachnodactyly with positive wrist and thumb signs, reduced upper-to-lower segment ratio, increased arm-span-to-height ratio, dolichocephaly, pectus excavatum, and a high-arched palate. Non-contrast CT showed left occipital and posterior inferior cerebellar hypodensities. CT angiography demonstrated discontinuous intraluminal filling defects in the left vertebral artery at C4 and C2, and MR angiography confirmed long-segment occlusion/stenosis of the intracranial left vertebral artery. Echocardiography revealed mild aortic-root dilation (4.0 cm; Z-score +2.53) and a small patent foramen ovale (PFO) with a positive bubble study. The patient received intravenous thrombolysis followed by antiplatelet therapy, a high-intensity statin, antihypertensive therapy, and intensified glycaemic control. Because the infarct territory matched the dissected vessel and the small PFO carried no high-risk features (RoPE score 6; PASCAL category “unlikely”), VAD was designated the culprit lesion and the PFO incidental; Conclusions: Spontaneous VAD may be the inaugural manifestation of unrecognised MFS, antedating aortic complications. In young adults with cryptogenic posterior-circulation stroke and marfanoid features, early cervical imaging and Ghent assessment are warranted, and a coexistent PFO should not be assumed causal. Multidisciplinary evaluation supports accurate attribution and surveillance. Full article

Background: Asymptomatic intracranial atherosclerotic arterial stenosis (ICAS) is an underrecognized entity for which vascular risk-factor optimization is the primary management strategy, with no current indication for routine antiplatelet therapy or endovascular intervention for primary stroke prevention. Glucagon-like peptide-1 receptor agonists (GLP-1RAs) reduce major adverse cardiovascular events, including stroke, in high-risk cardiometabolic populations, but their association with outcomes in asymptomatic ICAS is yet to be evaluated. The present study aims to evaluate the association between GLP-1RA use and cerebrovascular outcomes in adults with asymptomatic ICAS. Materials and Methods: We used the TriNetX US Collaborative Network (71 healthcare organizations) to identify adults (≥18 years) with ICAS between 1 January 2016 and 31 December 2025, and excluded patients with prior cerebral infarction, intracranial hemorrhage, or cerebrovascular ischemic syndromes. Exposure was defined as initiation of any GLP-1 receptor agonist (lixisenatide, semaglutide, liraglutide, tirzepatide, dulaglutide) during the 6 months before or on the date of index ICAS diagnosis. Outcomes were assessed at 1 year, and included ischemic stroke, all-cause mortality, and a composite of ischemic stroke or mortality. Propensity-score matching (1:1) was performed, including demographics, vascular risk factors, comorbidities, antithrombotics, lipid/diabetes therapies, and cardiometabolic laboratory/physiologic measures. Results: Before matching, 1746 GLP-1RA users and 71,792 non-users met inclusion criteria; after matching, 1728 patients remained in each cohort. GLP-1RA use was associated with lower 1-year risk of ischemic stroke (4.40% vs. 6.10%; hazard ratio [HR] 0.70, 95% CI 0.52–0.95; p = 0.044), lower all-cause mortality (3.40% vs. 9.40%; HR 0.35, 95% CI 0.26–0.47; p < 0.001), and lower composite outcome risk (7.50% vs. 15.00%; HR 0.48, 95% CI 0.39–0.59; p < 0.001). Notably, these associations were observed despite matching for HbA1c, LDL cholesterol, BMI, and systolic blood pressure, suggesting potential effects beyond measured cardiometabolic risk profiles. Conclusions: In this large, propensity-matched cohort of adults with a-ICAS, GLP-1RA use was associated with lower ischemic stroke, all-cause mortality, and composite outcome at 1 year. These findings are hypothesis-generating and require further prospective studies to confirm this observation. Full article

Background/Objectives: Acute carotid tandem lesions (TLs), defined by concurrent cervical internal carotid artery (ICA) stenosis or occlusion and intracranial large vessel occlusion, occur in 10–20% of patients undergoing mechanical thrombectomy (MT) for acute ischemic stroke (AIS). Optimal periprocedural antiplatelet management during emergent carotid artery stenting (eCAS) remains uncertain, particularly regarding the balance between preventing stent thrombosis and avoiding hemorrhagic complications. Methods: A narrative review was conducted using PubMed and Scopus (until 6 March 2026) to identify English-language studies evaluating antiplatelet therapies during eCAS for TLs. We included seven real-world studies and registry analyses. Data on study design, patient characteristics, procedural strategies, angiographic results, functional outcomes, and safety metrics were extracted. Results: No randomized controlled trials (RCTs) were identified. The available evidence is derived exclusively from observational studies. Across these cohorts, glycoprotein IIb/IIIa inhibitors (GPIs), particularly tirofiban, were generally associated with lower rates of in-stent thrombosis and higher reperfusion success, with symptomatic intracranial hemorrhage (sICH) rates that appeared comparable to or lower than those reported with acetylsalicylic acid (ASA). Cangrelor, an intravenous (IV) P2Y₁₂ inhibitor, was associated with improved stent patency and increased likelihood of complete reperfusion, although reported effects on clinical outcomes were inconsistent when compared with GPIs or ASA. Aside from abciximab, potent IV antiplatelet agents did not consistently show an increased sICH signal. Oral dual antiplatelet therapy was also associated with improved technical outcomes without a clear excess in bleeding complications. Conclusions: Current real-world observational data suggest that rapid-acting IV antiplatelet agents—particularly GPIs and, increasingly, cangrelor—may represent feasible periprocedural options during eCAS for TLs, with potential benefits for technical success and no consistent evidence of increased hemorrhagic risk. However, interpretation is limited by study heterogeneity and non-randomized designs. The absence of RCTs highlights the need for prospective comparative studies and standardized periprocedural antiplatelet protocols. Full article

Objective: To evaluate the performance of photon-counting detector CT (PCD-CT) angiography for the detection and quantification of vascular stenosis. Methods: Web of Science, PubMed, and Cochrane databases were searched from January 1980 to December 2025 to identify studies assessing PCD-CT angiography for the detection and quantification of vascular stenosis, using invasive angiography as the reference standard. The risk of bias of the included studies was assessed using the Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) tool. Diagnostic performance metrics, including sensitivity and specificity and quantification values, were extracted from the included studies and a formal narrative synthesis was performed. The meta-analysis included studies reporting true-positive, false-positive, true-negative, and false-negative data. A meta-analysis was conducted only when a minimum of two eligible studies assessed diagnostic performance within the given vascular territory. Statistical analyses were performed using R software (v4.5.0), applying a random-effects model for the meta-analysis. Results: Of 415 identified studies, 20 were included in the systematic review, comprising a total of 9165 participants, with the majority (17/20, 85%) focusing on coronary artery stenosis. In the meta-analysis of three studies, ultra-high-resolution (UHR) PCD-CT demonstrated excellent diagnostic performance for detecting coronary stenosis for patients with ≥50%, having a pooled sensitivity of 96.1% (95% confidence level (CI): 89.3–99.6), specificity of 87.5% (95% CI: 78.2–93.3), positive predictive value (PPV) of 91.9% (95% CI: 70.3–98.2), and negative predictive value (NPV) of 94.8% (95% CI: 86.0–98.6). Compared with conventional energy-integrating detector CT (EID-CT), PCD-CT consistently showed superior diagnostic performance, particularly in the specificity and PPV. In terms of stenosis quantification, PCD-CT showed closer agreement with reference standards than EID-CT, leading to the reclassification of coronary stenosis severity in up to 49% of patients. Evidence for non-coronary vascular territories, including intracranial and peripheral arteries remains limited but suggests promising diagnostic performance. For lower-limb arterial stenosis, the reported sensitivity was 77.4–91%, and specificity was 72.1–91%. For intracranial in-stent stenosis, PCD-CT demonstrated a sensitivity of 100% and a specificity of 89%. Conclusions: PCD-CT angiography provides high diagnostic performance and improved stenosis quantification for coronary artery stenosis. UHR PCD-CT has excellent diagnostic performance for detecting coronary stenosis and consistently outperforms conventional EID-CT, especially in the specificity and positive predictive value. Full article

Background: Arterial stenosis produces nonlinear changes in vascular impedance that are challenging to investigate in real time using either benchtop flow phantoms or high-fidelity computational fluid dynamics (CFD) models. Objective: This study aimed to develop and evaluate a low-cost printed circuit board (PCB) analog capable of reproducing the hemodynamic effects of progressive arterial stenosis through an R–L–C mapping of vascular mechanics. Methods: A lumped-parameter (0D) electrical network was constructed in which voltage represented pressure, current represented flow, resistance modeled viscous losses, capacitance corresponded to vessel compliance, and inductance represented fluid inertance. A variable resistor simulated focal stenosis and was adjusted incrementally to represent progressive narrowing. Input U_in, output U_out, peak-to-peak V_pp, and mean V_avg voltages were recorded at a driving frequency of 50 Hz. Physiological correspondence was established using the canonical relationships. $R={\displaystyle \frac{8\mu l}{\pi r^4}}$, $L={\displaystyle \frac{pl}{\pi r^2}}$, $C={\displaystyle \frac{3\pi r^3}{2Eh}}$, where μ is blood viscosity, ρ is density, E is Young’s modulus, and h is wall thickness. A calibration constant was applied to convert measured voltage differences into pressure differences. Results: As simulated stenosis increased, the circuit exhibited a monotonic rise in U_out and V_pp, with a precise inflection beyond mid-range narrowing—consistent with the nonlinear growth in pressure loss predicted by fluid dynamic theory. Replicate measurements yielded stable, repeatable traces with no outliers under nominal test conditions. Qualitative trends matched those of surrogate 0D and CFD analyses, showing minimal changes for mild narrowing (≤25%) and a sharp increase in pressure loss for moderate to severe stenoses (≥50%). The PCB analog uses a simplified, lumped-parameter representation driven by a fixed-frequency sinusoidal excitation and therefore does not reproduce fully characterized physiological systolic–diastolic waveforms or heart–arterial coupling. In addition, the present configuration is intended for relatively straight peripheral arterial segments and is not designed to capture the complex geometry and branching of specialized vascular beds (e.g., intracranial circulation) or strongly curved elastic vessels (e.g., the thoracic aorta). Conclusions: The PCB analog successfully reproduces the characteristic hemodynamic signatures of arterial stenosis in real time and at low cost. The model provides a valuable tool for educational and research applications, offering rapid and intuitive visualization of vascular behavior. Current accuracy reflects assumptions of Newtonian, laminar, and lumped flow; future work will refine calibration, quantify uncertainty, and benchmark results against physiological measurements and full CFD simulations. Full article

Background: Although large-vessel vasculitis (LVV) can affect both the anterior and posterior intracranial circulation, routine neurosonographic follow-up, including transcranial duplex sonography, has not been established. We aimed to characterize patients with giant cell arteritis (GCA) and Takayasu arteritis (TAK) regarding the detection of progressive or new-onset inflammatory vessel changes by using neurosonography, and to assess the impact on medical or interventional treatment strategies. Methods: We retrospectively identified all patients with LVV treated at our neurological department between January 2015 and October 2025 with at least one neurosonographic follow-up examination. Baseline and follow-up sonographic data, clinical characteristics, medical therapy, and interventional treatments were analyzed. Results: In total, 21 LVV patients (GCA, n = 16; TAK, n = 5) underwent sonographic follow-up (GCA: median 28 (2–106) months, 4.5 (2–33) sonographic assessments; TAK: 75 (33–255) months, 14 (4–60) sonographic assessments). Isolated or combined, progressive or new-onset intra- and extracranial arterial disease was detected in seven of the 16 GCA patients (43.8%), of whom three (18.8%) presented with ischemic stroke. Medical treatment was adapted in four progressive cases. In two patients, additional interventional treatment was performed. Among TAK, two of five (40%) patients showed progressive sonographic changes, with one patient experiencing an ischemic stroke requiring endovascular treatment for progressive common carotid artery stenosis and one patient showing asymptomatic intracranial ICA involvement. Conclusions: Progressive and symptomatic involvement of intracranial carotid and vertebral arteries is a frequent finding in patients with LVV. These changes can be effectively detected through comprehensive neurosonographic follow-up, including transcranial ultrasound assessment. Full article

Background/Objectives: Parent artery disease (PAD) is a significant yet often overlooked contributor to ischemic strokes, particularly affecting the perforating arteries. This study aims to evaluate the impact of PAD on endovascular treatment outcomes in patients with intracranial atherosclerosis. Methods: A narrative review was conducted, synthesizing the existing literature on PAD and its relationship with endovascular interventions. Key studies were analyzed to assess the effectiveness of imaging techniques like high-resolution Magnetic Resonance Imaging (MRI) and the implications of plaque morphology on treatment strategies. Results: The findings indicate that PAD significantly complicates endovascular procedures, often leading to perforating artery occlusions and increased rates of stroke recurrence. Patients with PAD-related strokes demonstrated larger lesion volumes and more severe neurological deficits compared to those with small vessel disease. The review highlights the challenges of accurately diagnosing PAD using conventional imaging techniques, emphasizing the need for advanced modalities to identify atheromatous plaques that may not cause significant stenosis. Conclusions: The study underscores the necessity for a shift in clinical practice towards recognizing and managing PAD in patients with ischemic strokes. Enhanced imaging techniques and tailored endovascular strategies are essential to improve patient outcomes and minimize the risk of recurrent strokes. Further research is needed to establish comprehensive guidelines for addressing PAD in acute stroke management. Full article

Background/Objectives: After the negative results of the SAMMPRIS trial, the indication for endovascular treatment of atherosclerotic intracranial artery stenosis (ICAS) was widely restricted. It was the aim of our study to report whether intracranial arterial percutaneous transluminal angioplasty and stenting (PTAS) as ultima ratio therapy is still effective and safe enough. Methods: Between February 2011 and June 2019, 63 consecutive patients with and without emergent large vessel occlusion (ELVO) who received PTAS for symptomatic ICAS in the anterior or vertebrobasilar circulation were included in our study. Results: A total of 32 patients had ELVO. In the remaining 31 patients, a known ICAS was treated with PTAS either because of recurrent stroke despite aggressive medical therapy with dual antiplatelet inhibition (n = 24) or due to progressive hemodynamic ischemia (n = 7). Stenting was successful in all 63 cases. Successful reperfusion was achieved in 94% of ELVO patients. Complications with new neurologic deficits, including dissection, subarachnoid hemorrhage, intracerebral hemorrhage (PH2), and stent thrombosis, were seen in five ELVO patients (16%). At discharge, neurological status improved in 16 patients (50%) and deteriorated in 7 patients (22%). In-hospital mortality happened in 5 of 32 ELVO cases (16%), and all of them had lesions in the vertebrobasilar circulation. Regarding non-ELVO cases, two patients (6%) developed new neurologic deficits due to perforator strokes. There was no in-hospital mortality in this group. Conclusions: Even in unfavorable situations with acute atherothrombotic occlusions or recurrent strokes under aggressive medical therapy of known ICAS, PTAS remains a treatment option with reasonable effectiveness. This should be balanced against other treatment options, taking into account the complication rate, which is not negligible. Full article

Background/Objectives: The efficacy of mechanical thrombectomy in large vessel occlusion has been established in multiple clinical trials as the standard of care for acute ischemic stroke. However, the incidence of refractory thrombectomy (RT), as well as related factors, remains unclear. Methods: We designed a retrospective study based on our prospective database from December 2014 to December 2023, collecting together the data on patients with large/medium vessel occlusion and reperfusion technique failure. We analyzed clinical, laboratory, histopathological, and radiological markers, as well as predictive variables of RT, mRS at three months, and symptomatic intracranial hemorrhage (sICH). Results: Among 733 patients, the incidence of refractory thrombectomy was 7.4% (n = 54). The most relevant causes were technical difficulties in passing through the occlusion (33.3%), clot resistance to extraction despite correct device placement (31.5%), and underlying intracranial stenosis (13%). A total of 20 recalcitrant thrombi were analyzed. Both atherotrombotic cause (OR 4.22, CI 95% 1.1–16.25; p = 0.04) and the absence of hyperdense artery sign (HAS) on CT (OR 0.26, 95% CI 0.09–0.79; p = 0.02) were independent predictors of RT outcome. For sICH, independent predictors were NIHSS at admission (OR 1.1; 95% CI 1.02–1.18; p = 0.008), protective effect in M1 occlusions (OR 0.28; 95% CI 0.09–0.88; p = 0.03), and prior IV thrombolysis (OR 0.38; 95% CI 0.16–0.93; p = 0.03). Finally, for favorable clinical outcome (mRS 0-2), a correlation was found with the NIHSS score at admission (OR 1.11; 95% CI 1.08–1.14; p = 0.0001), a history of diabetes (OR 0.53, 95% CI 1.02–1.18; p= 0.004), and RT status (OR 0.06, 95% CI 0.01–0.31; p = 0.001). No direct relationship was found between the clot composition and prognostic variables or first-line recanalization strategy. Conclusions: In our cohort, the incidence of refractory thrombectomies was low and associated with a worse clinical outcome. Absence of the hyperdense artery sign and the atherothrombotic stroke subtype were found to be independent predictors of refractory recanalization. Full article

Background/Objectives: Despite the reported correlation between white matter hyperintensity (WMH) and intracranial atherosclerosis (ICAS), little is known about the association between intracranial plaque imaging characteristics and the severity of WMH. This study aimed to investigate the relationship between plaque imaging features in the major intracranial large arteries and the severity of WMH by high-resolution magnetic resonance imaging (HR-MRI) in a local community-based cohort. Methods: Stroke-free Chinese aged over 45 years old were recruited. Plaque imaging features of intracranial arteries identified in middle cerebral arteries (MCAs), vertebral arteries (VAs), and basilar arteries (BAs) were analyzed. The plaque characteristics were compared between subjects with or without moderate-to-severe WMH (Fazekas score > 2), and their independent association with the severity of WMH was also assessed using multivariate logistic regression analysis. Results: In the cohort of 272 subjects (mean age, 63.4 ± 6.8 years old; males, n = 118), 24.6% with moderate-to-severe WMH had a significantly higher prevalence of ICAS, eccentric lesions, diffuse thickening pattern, and a heavier plaque burden in the intracranial major arteries compared to those without moderate-to-severe WMH. After adjusting for confounding factors, multivariate logistic regression analysis showed that an eccentric pattern of plaque lesion was independently associated with moderate-to-severe WMH. Conclusions: Eccentric lesions in the major intracranial large arteries, but not diffuse thickening patterns, luminal stenosis, and plaque burden, were independently associated with a greater burden of WMHs among middle-aged or older adults. Eccentricity of major intracranial large artery lesions may be a potential imaging marker to assess WMH burden. Understanding the correlation between atherosclerotic patterns and the severity of WMH would aid in early stratifying the future clinical risk of cerebrovascular events and support the development of individualized treatment strategies. Further studies are warranted to investigate its value in predicting future cerebrovascular events. Full article

Background and Clinical Significance: Moyamoya disease (MMD) is a progressive intracranial vasculopathy characterized by stenosis or occlusion of the terminal internal carotid arteries and the development of fragile collateral networks. It predisposes patients to ischemic and hemorrhagic strokes. Although both direct and indirect revascularization procedures are recommended to restore cerebral blood flow, recurrent cerebrovascular events may still occur, and delayed hemorrhage following revascularization is particularly uncommon. Case Description: We report the case of a 42-year-old woman who presented with seizure, syncope, and aphasia. Cranial computed tomography (CT) revealed a large left temporal–insular intraparenchymal hematoma with a midline shift. Computed tomography angiography (CTA) demonstrated bilateral internal carotid artery narrowing and collateral vessel proliferation, without aneurysm. Her history indicated a hemorrhagic stroke 15 years earlier, at which time MMD was diagnosed by magnetic resonance angiography (MRA) and managed with multiple burr hole surgeries. She remained free of cerebrovascular events until the current presentation. The patient underwent emergent hematoma evacuation, followed by intensive care management. Postoperatively, she demonstrated neurological improvement, though with residual motor aphasia and right-sided weakness, and was discharged for rehabilitation. Conclusions: This case underscores the rare occurrence of delayed intracerebral hemorrhage 15 years after indirect revascularization in MMD. Although revascularization surgery remains the standard therapeutic approach, this report highlights the importance of sustained long-term surveillance, strict risk factor management, and careful postoperative follow-up. The key point is that late hemorrhagic complications, though uncommon, must be considered in the long-term care of MMD patients following revascularization. Full article

Background: Concurrent atherosclerosis (AS) in peripheral arteries may worsen the prognosis of ischemic cerebrovascular disease (ICVD) patients. Although cervicocephalic atherosclerotic burden (AB) has demonstrated strong risk stratification capabilities, whether peripheral arterial evaluation provides incremental prognostic value remains unclear. This study aimed to determine whether cervicocephalic–peripheral AB (CPAB) improves risk stratification in ICVD patients. Methods: This prospective cohort study consecutively included acute ICVD patients. AB scores for intracranial, cervical, renal, and lower extremity arteries were assigned as 0 (no stenosis), 1 (significant stenosis in one segment), or 2 (significant stenosis in ≥2 segments). The total score (range 0–8) was trisected into low, medium, and high CPAB levels. The primary endpoint was a composite of ischemic stroke, acute coronary syndrome, and vascular death. Model performance was evaluated using Harrell’s C and Somers’ D. Results: Among 403 patients (mean follow-up: 9.6 ± 5.4 months), 41 primary endpoints occurred, and 21 (5.2%) were lost to follow-up. Of 382 patients analyzed, 30.6% had significant peripheral AS. Patients with concurrent peripheral-cervicocephalic AS had a higher risk of vascular events (p = 0.001) than those with single-territory AS. CPAB was independently associated with the primary endpoint (HR = 2.22, p < 0.001) and stroke recurrence (HR = 1.90, p = 0.013). While cervicocephalic AB also independently predicted outcomes, the CPAB-based multivariate Cox model had improved discriminative performance (Harrell’s C = 0.678 vs. 0.653 for primary endpoint, p = 0.02; 0.646 vs. 0.634 for stroke recurrence, p = 0.03). Conclusions: Peripheral AS is common in ICVD patients and contributes independently to vascular risk. The CPAB score, which integrates atherosclerotic burden from both cervicocephalic and peripheral territories, could improve prognostic stratification compared to single-territory or cervicocephalic AB alone, supporting comprehensive multiterritorial AS assessment to guide risk-based management strategies. Full article

Background: Intracranial atherosclerosis disease (ICAD) represents a significant etiology of stroke. This study aimed to evaluate correlations between intracranial atherosclerotic burden and risk of ischemic events. Methods: In this prospective observational study, all enrolled patients underwent High-Resolution Magnetic Resonance vessel wall Imaging (HR MR-VMI) within two weeks of onset, or of enrollment. Baseline assessments included modified American Heart Association plaque type, stenosis degree, intra-plaque hemorrhage (IPH), plaque thickness, plaque length, and vessel wall enhancement. Modified Rankin Scale (mRS) was followed with one-year treatment in adherence to the guidelines. Comparative analyses were conducted between symptomatic and asymptomatic groups, culprit versus non-culprit plaques, and favorable versus poor prognosis groups. Results: The study included 129 symptomatic and 42 asymptomatic patients. Hypertension, diabetes, and smoking were more prevalent in patients in the symptomatic group. Vulnerable plaque (97.7% vs. 64.3%, p = 0.003), IPH (17.8% vs. 4.8%, p = 0.022) and higher stenosis degree (χ² = 2.675, p = 0.008) were significantly more prevalent in the symptomatic group. Culprit plaques were predominantly located in the superior wall of the middle cerebral artery (MCA) (χ² = 15.561, p = 0.001) and the left wall of the basilar artery (χ² = 34.138, p = 0.008). Factors associated with poor prognosis included older age (63.63 ± 8.19 vs. 55.63 ± 13.15, p = 0.001), presence of IPH (31.82% vs. 14.29%, p = 0.037), and elevated D-dimer levels (0.77 ± 0.60 vs. 0.40 ± 0.36, p = 0.022). Conclusions: Vulnerable plaque, specific lesion locations, and higher stenosis degree are significantly associated with ischemic events in ICAD. While plaque enhancement and stenosis correlate with stroke occurrence, they show no clear association with prognosis. Neither the length nor the thickness of plaques manifests a significant correlation with either stroke events or the prognostic outcomes. Full article

Moyamoya disease (MMD) is a cerebrovascular condition characterized by progressive stenosis of intracranial arteries, leading to stroke. While MMD was long considered a genetic disorder, emerging evidence suggests autoimmune mechanisms may contribute to its pathogenesis. The role of non-coding RNAs (ncRNAs) in the pathogenesis of MMD is under heated discussion, and a competitive endogenous RNA (ceRNA) network involving MMD-related ncRNAs has not been constructed. In this study, we integrated multiple bioinformatic analyses on transcriptomic data from the middle cerebral arteries of MMD patients and controls. Our analysis revealed a significant enrichment of innate immune system pathways, including antigen processing and macrophage activation, in MMD tissue. We constructed a robust ceRNA network centered on the long non-coding RNA MALAT1, identifying 15 core mRNA targets. A classifier built from these MALAT1-related genes accurately distinguished MMD patients from controls, with an area under the curve of 0.869 in independent validation. Furthermore, immune deconvolution analysis showed a marked increase in microvascular endothelial cells and a decrease in CD4⁺ memory T cells and regulatory T cells in MMD arteries. The expression of the MALAT1 network genes strongly correlated with these shifts in cellular composition, positively with endothelial cells and negatively with T cells. Our findings uncover a MALAT1-driven ceRNA network that links immune dysregulation to vascular changes in MMD, highlighting MALAT1 as a potential biomarker and therapeutic target. Full article

The ring finger protein 213 (RNF213) Arg4810Lys variant has been previously identified as a significant risk factor for Moyamoya disease (MMD), particularly in East Asian populations. This review explores the broader impact of the Arg4810Lys mutation on various cerebrovascular conditions, including Moyamoya syndrome (MMS), intracranial artery stenosis, quasi-Moyamoya syndromes, ischemic stroke, and intracranial atherosclerosis. Beyond the brain, it is also implicated in pulmonary arterial hypertension, coronary artery disease, and renal artery stenosis, emphasizing its systemic effects. Functional studies suggest that RNF213 Arg4810Lys alters angiogenic signaling, endothelial cell function, vascular remodeling, and immune response pathways, especially when influenced by environmental stressors, like hypoxia or inflammation. The gene dosage of Arg4810Lys significantly affects disease phenotypes, with homozygous carriers typically experiencing earlier onset with increased severe symptoms. The variant also exhibits incomplete penetrance and frequently co-occurs with additional genetic alterations, including trisomy, KIF1A, FLNA, and PCSK9 mutations, which complicates its pathogenicity. A comprehensive understanding of RNF213 Arg4810Lys’s systemic impact is essential to developing effective risk assessment strategies, personalized treatments, and targeted therapies for associated vascular diseases. Full article