Type Moyamoya Disease Research Articles

Clinical Characteristics and Multi-Model Imaging Analysis of Moyamoya Disease: An Observational Study.

Previous studies have lacked a comprehensive analysis of imaging modalities for diagnosing Moyamoya disease (MMD). This study aims to bridge this gap by utilizing multi-modal imaging to provide a more detailed understanding of the clinical and imaging characteristics of MMD. A retrospective analysis was conducted on seventy-eight adult MMD patients enrolled from March 2018 to March 2021. The study focused on clinical features, imaging findings, and treatment outcomes, with a particular emphasis on the comparative efficacy of different imaging modalities. In this series, clinical manifestations varied depending on the type of MMD, with intracerebral hemorrhage (ICH) being the most common (69.2%), followed by cerebral infarction (25.6%). Imaging techniques provided critical diagnostic insights: magnetic resonance imaging (MRI) demonstrated superior sensitivity over computed tomography (CT) in detecting hemorrhages, whereas computed tomography angiography (CTA) and digital subtraction angiography (DSA) identified intricate vascular lesions, including moyamoya vessels and aneurysms. Notably, cerebral perfusion imaging (CTP) highlighted significant differences in cerebral blood flow and volume between infarction and hemorrhage cases. This comprehensive imaging approach guided varied therapeutic strategies, including bypass surgery in 57 patients and interventional embolization for aneurysms in 14 patients. The authors' findings underscore the critical role of early diagnosis using DSA, whereas highlighting CTA and MRA as valuable noninvasive tools for screening and follow-up. The integration of multi-modal imaging provides a detailed vascular assessment crucial for individualized patient management, facilitating timely interventions and significantly improving clinical outcomes.

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

BackgroundThe 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....

Circulating choline pathway nutrients and risk of moyamoya disease

BackgroundCirculating choline pathway nutrients play a critical role in first stroke and recurrent stroke. However, there is limited information available on the effects of choline pathway nutrients on the risk of moyamoya disease (MMD) and its subtypes. We investigated the association between circulating choline and betaine and the incident risk of MMD and its subtypes.MethodsThe case-control study enrolled 385 patients with MMD [i.e., 110 transient ischemic attack (TIA)-type MMD, 157 infarction-type MMD, and 118 hemorrhagic-type MMD] and 89 matched healthy controls.ResultsSerum choline and betaine were inversely related to the risk of MMD and its subtypes. The risk of MMD was decreased with each increment in choline level [per 1 μmol increase: odds ratio (OR), 0.756; 95% CI, 0.678–0.843] and betaine level (per 1 μmol increase: OR, 0.952; 95% CI, 0.932–0.972), respectively. When choline and betaine were assessed as quartiles, compared with the lowest quartile of serum choline and betaine levels, those in the highest quartile had a significantly decreased risk of MMD (choline, Q4 vs. Q1: OR, 0.023; 95% CI, 0.005–0.118; betaine, Q4 vs. Q1: OR, 0.058; 95% CI, 0.018–0.184).ConclusionsSerum choline and betaine were associated with the decreased risk of MMD and its subtypes.

Postoperative incidence of seizure and cerebral infarction in pediatric patients with epileptic type moyamoya disease: a meta-analysis of single rate

BackgroundSurgery is a conventional mature treatment for moyamoya disease (MMD). However, whether surgery is also an effective therapy for epileptic type MMD has seldom been investigated systematically. The study aims to summarize the pooled postoperative incidence of seizure and cerebral infarction in pediatric patients with epileptic type moyamoya disease.MethodThe study was a systematic review and critical appraisal with a meta-analysis of cohort studies, both prospective and retrospective. Studies were identified by a computerized search of PubMed, Embase, Web of Science, Wanfang, and CNKI databases. In a literature search, a total of 7 cohort studies were identified. The I2statistic was used to quantify heterogeneity. A fixed-effect model was used to synthesize the results. The linear regression test of funnel plot asymmetry was used to estimate the potential publication bias.ResultsThe pooled estimated postoperative incidence of seizure in pediatric patients with epileptic type moyamoya disease was 23.44%. The pooled estimated postoperative incidence of cerebral infarction in pediatric patients with epileptic type moyamoya disease was 9.12%. Low substantial heterogeneity and potential publication bias were present.ConclusionsEvidence from this study suggests that the postoperative incidence of seizure and cerebral infarction is relatively low. Surgery is an effective and secure therapy for pediatric patients with epileptic type moyamoya disease.

Dl-3-n-butylphthalide for alleviation of neurological deficit after combined extracranial-intracranial revascularization for moyamoya disease: a propensity score-matched analysis.

Postoperative neurological deficits impair the overall outcome of revascularization surgery for patients with moyamoya disease (MMD). dl-3-n-butylphthalide (NBP) is approved for the treatment of ischemic stroke in China. This pilot study evaluated the effect of NBP on perioperative stroke and neurological deficits in patients with MMD. The authors studied cases in which patients underwent combined revascularization surgery for MMD at their institution, with or without NBP administration. The overall study group included 164 patients (213 surgically treated hemispheres), including 49 patients who received NBP (25 mg twice daily) for 7 postoperative days. The incidence of perioperative stroke and transient neurological deficit (TND) and the severity of neurological deficits were compared between 49 propensity score-matched case pairs with or without NBP treatment. Subgroup analyses by type of onset and preoperative neurological status were also performed to determine specific characteristics of patients who might benefit from NBP administration. In the overall cohort, baseline characteristics differed with respect to preoperative stroke and modified Rankin Scale (mRS) score between patients who received NBP and those who did not receive it. In the 49 propensity score-matched pairs, postoperative stroke was observed in 11 patients and TND occurred in 21 patients, with no significant difference in incidence between the 2 groups. However, the TND was less severe in the NBP-treated group (p = 0.01). At 1 month after surgery, the neurological outcome was more favorable (p = 0.001) and the disability-free recovery rate was higher in patients with NBP treatment (p < 0.001). The number of patients who experienced an improved neurological function, compared to preoperative function, as measured by mRS, was greater in the NBP group than in the no-NBP group (p < 0.001). Multivariable analysis revealed that NBP administration was associated with decreased severity of TND (OR 0.28, p = 0.02), improved neurological function (OR 65.29, p = 0.04), and lower postoperative mRS score (OR 0.06, p < 0.001). These beneficial effects of NBP remained significant in ischemic type MMD and patients with preoperative mRS scores of 2 or greater. Postoperative administration of NBP may alleviate perioperative neurological deficits after revascularization surgery for MMD, especially in patients with ischemic MMD and unfavorable preoperative status. The results of this study suggest that randomized controlled trials to assess the potential benefit of NBP in patients with MMD may be warranted.

Cerebrovascular Events During Pregnancy and Puerperium Resulting from Preexisting Moyamoya Disease: Determining the Risk of Ischemic Events Based on Hemodynamic Status Assessment Using Brain Perfusion Single-Photon Emission Computed Tomography

The purposes of this study were to review the cerebrovascular events (CVE) during pregnancy and puerperium in adults with moyamoya disease (MMD) and to evaluate its risk factors. We reviewed electronic medical records on 141 pregnancies in 71 women diagnosed with MMD and this study included only 27 pregnancies (23 patients) diagnosed with MMD before pregnancy. Basal and acetazolamide-stress brain perfusion single-photon emission computed tomography (SPECT) was conducted for 40 hemispheres in 21 pregnancies within 1 year of the gestational period, ranging from 22 months before delivery to 12 months after delivery for evaluation of the hemodynamic status of the patients to devise the MMD treatment strategy. Twelve pregnancies (44.4%) showed CVE during pregnancy or puerperium in the group diagnosed with MMD before pregnancy. All the 12 CVE were ischemic, without any hemorrhagic events. A decreased cerebral vascular reserve capacity (CVRC) on stress SPECT was observed in 25 (62.5%) of the 40 hemispheres, and 18 of these 25 hemispheres showed TIA. In contrast, only 2 of 15 hemispheres which revealed normal CVRC on stress SPECT showed TIA. Overall, a decreased CVRC on stress SPECT imaging was statistically associated with development of CVE (P < 0.001). Furthermore, the clinical type of MMD was also regarded as predictive factor for CVE in this study. Especially, ischemic type MMD revealed a statistical association with the development of CVE (P= 0.014, odds ratio= 16.50). Assessment of cerebral hemodynamic status with stress SPECT may predict CVE during pregnancy and puerperium.

The Efficacy of Single Barrel Superficial Temporal Artery-middle Cerebral Artery Bypass in Treatment of Adult Patients with Ischemic-type Moyamoya Disease.

ObjectiveSo far, there is no study answering the question of which type of surgical technique is practically the most useful in the treatment of adult patients with ischemic type moyamoya disease (MMD). We evaluated the efficacy of single barrel superficial temporal artery (STA)-middle cerebral artery (MCA) bypass in the treatment of adult patients with ischemic type MMD by retrospectively collecting clinical and radiological data.Materials and MethodsA retrospective review identified 31 adult patients who underwent 43 single barrel STA-MCA bypass procedures performed for treatment of ischemic-type MMD between 2006 and 2014. The male to female ratio was 17:14 and the mean age was 41 years (range, 21-65 years). Peri-operative complications, angiographic and clinical outcomes were analyzed retrospectively.ResultsThe permanent neurological morbidity and mortality rates were 2.3% and 0%, respectively. During the observation period of a mean of 35 months (range, 12-73 months), 29 patients (93.5%) had no further cerebrovascular events and transient ischemic attack occurred in two patients (6.5%), resulting in an annual stroke risk of 2.2%. Follow-up computed tomography perfusion (CTP) (mean, 18.4 months after surgery) documented improved cerebral hemodynamics in the revascularized hemispheres (p < 0.001). Post-operative patency was clearly verified in 38 bypasses (88.4%) of 43 bypasses on follow-up imaging (mean, 16.5 months).ConclusionOur results suggest that single barrel STA-MCA bypass with wide dural opening is safe and durable method of cerebral revascularization in adult patients with ischemic type MMD and can be considered as a potential treatment option for adult patients with ischemic type MMD.

Abstract T MP59: Symptomatic and Silent Cerebral Infarct following Combined Bypass for Moyamoya Disease evaluated with Diffusion-Weighted Image: A Multivariate Analysis

Background: The clinical features of cerebral infarct detected by diffusion-weighted image (DWI) following combined direct and indirect bypass for moyamoya disease (MMD) is still not fully understood. This study aims to study the incidence and risk correlates of symptomatic and silent cerebral infarct following combined bypass in MMD. Methods: A retrospective survey was conducted with a sample size of 95 consecutive patients with MMD treated by combined bypass in Hokkaido University since 2002. DWI that was evaluated within 2 weeks after surgery was available in 111 of 131 surgeries (85%). Demographics, preoperative radiological findings, procedure-related data and postoperative symptomatic hyperperfusion were assessed. A multivariate logistic regression analysis was used to study the related variables on postoperative cerebral infarct on DWI. Results: Postoperative DWI detected a total of 21 instances (18.9%/surgery) of cerebral infarct, with no significant difference between generations (21.9 and 13.2%/surgery in adults and pediatrics, respectively). Symptomatic and silent cerebral infarct was occurred more frequently when surgery was performed following the ischemic events within 6 months prior to the surgery (recent ischemic events) compared to when performed without the recent ones (15.3 and 3.6%/surgery, respectively, P = 0.0078). Preemptive antiplatelet use and procedure-related variables, including craniotomy size and the number of direct bypass did not have any relationships with cerebral infarct. After adjustment of above-mentioned variables, symptomatic and silent cerebral infarct was found to associate significantly with recent ischemic events (P = 0.032; OR = 5.5; 95%CI 1.2-26) and preoperative FLAIR ivy sign (P = 0.047; OR = 5.9; 95%CI 1.02-33.9). Cerebral infarct detected by DWI was likely to be observed beyond the area covered by combined bypass. Conclusions: Symptomatic and silent cerebral infarct occurred in 18.9% of combined bypasses for MMD. It may be associated with recent ischemic events and preoperative FLAIR ivy sign. Surgical management to avoid postoperative infarct after the combined bypass beyond the bypassed area would be essential to further improve the outcome of ischemic type of MMD.

Molecular Analysis of RNF213 Gene for Moyamoya Disease in the Chinese Han Population

BackgroundMoyamoya disease (MMD) is an uncommon cerebrovascular disorder characterized by progressive occlusion of the internal carotid artery causing cerebral ischemia and hemorrhage. Genetic factors in the etiology and pathogenesis of MMD are being increasingly recognized. Previous studies have shown that the RNF213 gene was related to MMD susceptibility in the Japanese population. However, there is no large scale study of the association between this gene and MMD in the Chinese Han population. Thus we designed this case-control study to validate the R4810K mutation and to define the further spectrum of RNF213 mutations in Han Chinese.Methodology/Principal FindingsGenotyping of the R4810K mutation in the RNF213 gene was performed in 170 MMD cases and 507 controls from a Chinese Han population. The R4810K mutation was identified in 22 of 170 MMD cases (13%), including 21 heterozygotes and a single familial homozygote. Two of the 507 controls (0.4%) were heterozygous R4810K carriers. The R4810K mutation greatly increased the risk for MMD (OR = 36.7, 95% CI: 8.6∼156.6, P = 6.1 E-15). The allele frequency of R4810K was significantly different between patients with ischemia and hemorrhage (OR = 5.4, 95% CI: 1.8∼16.1, P = 0.001). Genomic sequencing covering RNF213 exon 40 to exon 68 also identified eight other non-R4810K variants; P4007R, Q4367L, A4399T, T4586P, L4631V, E4950D, A5021V and M5136I. Among them A4399T polymorphism was found in 28/170 cases (16.5%) and 45/507 controls (8.9%) and was associated with MMD (OR = 2.0, 95% CI: 1.2∼3.3, P = 0.004), especially with hemorrhage (OR = 2.8, 95% CI: 1.2∼6.5, P = 0.014).Conclusions RNF213 mutations are associated with MMD susceptibility in Han Chinese. The ischemic type MMD is particularly related to the R4810K mutation. However, A4399T is also a susceptible variant for MMD, primarily associated with hemorrhage. Identification of novel variants in the RNF213 gene further highlights the genetic heterogeneity of MMD.

Homozygous c.14576G&gt;A variant of RNF213 predicts early-onset and severe form of moyamoya disease

RNF213 was recently reported as a susceptibility gene for moyamoya disease (MMD). Our aim was to clarify the correlation between the RNF213 genotype and MMD phenotype. The entire coding region of the RNF213 gene was sequenced in 204 patients with MMD, and corresponding variants were checked in 62 pairs of parents, 13 mothers and 4 fathers of the patients, and 283 normal controls. Clinical information was collected. Genotype-phenotype correlations were statistically analyzed. The c.14576G>A variant was identified in 95.1% of patients with familial MMD, 79.2% of patients with sporadic MMD, and 1.8% of controls, thus confirming its association with MMD, with an odds ratio of 259 and p < 0.001 for either heterozygotes or homozygotes. Homozygous c.14576G>A was observed in 15 patients but not in the controls and unaffected parents. The incidence rate for homozygotes was calculated to be >78%. Homozygotes had a significantly earlier age at onset compared with heterozygotes or wild types (median age at onset 3, 7, and 8 years, respectively). Of homozygotes, 60% were diagnosed with MMD before age 4, and all had infarctions as the first symptom. Infarctions at initial presentation and involvement of posterior cerebral arteries, both known as poor prognostic factors for MMD, were of significantly higher frequency in homozygotes than in heterozygotes and wild types. Variants other than c.14576G>A were not associated with clinical phenotypes. The homozygous c.14576G>A variant in RNF213 could be a good DNA biomarker for predicting the severe type of MMD, for which early medical/surgical intervention is recommended, and may provide a better monitoring and prevention strategy.