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Diagnosis and Treatment of Moyamoya Disease

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".

Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 11980

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Dr. Sophia Vassilopoulou

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Department of Neurology Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece
Interests: stroke, rare cerebral vasculopathies; stroke in young patients; cerebral venous thrombosis; intracerebral hemorrhage

Dr. Georgios Velonakis

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Research Unit of Radiology and Medical Imaging, 2nd Department of Radiology, Attikon General University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece
Interests: stroke, rare cerebral vasculopathies; stroke in young patients; cerebral venous thrombosis; intracerebral hemorrhage

Dr. Argyro Tountopoulou

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1st Department of Neurology, University of Athens, Athens, Greece
Interests: stroke, rare cerebral vasculopathies; stroke in young patients; cerebral venous thrombosis; intracerebral hemorrhage

Dr. Dimitrios Kasselimis

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Psychology Department, Panteion University, Athens, Greece
Interests: language functions; aphasia; executive functions; memory; neurological disorders
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Dear Colleagues,

Moyamoya Vasculopathy (MMV) is a rare netlike vascular disease of the brain characterized by steno-occlusive lesions of intracranial arteries with an unknown etiology.

MMV affects both children and adults, and it can be presented either without an accompanying disease, which is then characterized as Disease, or with an accompanying disease, which is characterized as Syndrome.

The vasculopathy is quite well described in the Asian population, especially in Japan, due to its high incidence in this country. On the contrary, few Western studies have been reported, but differences in incidence, clinical and radiological presentation and in genetic background among different populations are emerging. Moreover, scarce studies have underlined the neuropsychological implications of MMV.

Overall, there is a need for more research on MMV to elucidate its possible etiology; to clarify the clinical, ethnic and demographic factors associated with the disease onset and progression; to highlight its neurocognitive manifestations; and to provide treatment options. The aforementioned issues constitute the focus of the present Special Issue. Some indicative topics are as follows:

Demographic and clinical characteristics of patients with MMV;
Neuroradiological diagnostic markers of MMV;
Neurocognitive manifestations of MMV;
Genetic background of MMV;
Incidence and differences of MMV between East and West.

Dr. Sophia Vassilopoulou
Dr. Georgios Velonakis
Dr. Argyro Tountopoulou
Dr. Dimitrios Kasselimis
Guest Editors

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Keywords

Moyamoya vasculopathy
stroke
steno-occlusive lesions
neurocognitive deficits

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Published Papers (6 papers)

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Research

12 pages, 544 KiB

Open AccessArticle

Moyamoya Disease: Clinical and Radiological Characteristics in Adult Greek Patients

by Sofia Vassilopoulou, Argyro Tountopoulou, Eleni Korompoki, Georgios Papageorgiou, Dimitrios Kasselimis, Georgios Velonakis, Achilles Chatziioannou, Constantin Potagas and Konstantinos Spengos

J. Clin. Med. 2023, 12(18), 5951; https://doi.org/10.3390/jcm12185951 - 13 Sep 2023

Cited by 1 | Viewed by 1271

Abstract

Background and purpose: The aim of our study is to present, for the first time, the clinical, radiological, and neurocognitive characteristics of Greek adult patients with Moyamoya disease (MMD). Methods: We analyzed prospectively collected data of 12 patients referred to our department from 2004 to 2019. All patients underwent a thorough diagnostic work up, including extensive clinical, neuroradiological, and neurocognitive assessment. Results: Our study population consisted of 7 females and the median age at the time of the diagnosis was 43.5 years. No patient had a positive family history of the disease and roughly 50% were hypertensives. Ten patients presented with transient or permanent cerebrovascular ischemia and two patients suffered from hemorrhagic complications. The median NIHSS was 7.5 (0–23) and clinical status remained stable during follow-up with conservative treatment in most of the patients. The majority (83.3%) had bilateral disease confirmed by DSA. All lesions exclusively affected the anterior circulation, with 50% of patients presenting with stenoocclusive changes. No aneurysm or AVM were revealed. The most common neurocognitive deficits were in the executive and language domains. Conclusions: Our MMD patients had a later onset of the disease and an absence of familial occurrence. The most common manifestation was ischemia, transient or permanent, and all lesions affected the anterior circulation, whereas no vascular malformations (AVM, aneurysms) were demonstrated in brain imaging. These findings in Greek patients imply a probable different, Mediterranean phenotype. Full article

(This article belongs to the Special Issue Diagnosis and Treatment of Moyamoya Disease)

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16 pages, 2260 KiB

Open AccessArticle

Anesthesia Depresses Cerebrovascular Reactivity to Acetazolamide in Pediatric Moyamoya Vasculopathy

by Pieter T. Deckers, Jeroen C. W. Siero, Maarten O. Mensink, Annick Kronenburg, Kees P. J. Braun, Albert van der Zwan and Alex A. Bhogal

J. Clin. Med. 2023, 12(13), 4393; https://doi.org/10.3390/jcm12134393 - 29 Jun 2023

Cited by 4 | Viewed by 1958

Abstract

Measurements of cerebrovascular reactivity (CVR) are essential for treatment decisions in moyamoya vasculopathy (MMV). Since MMV patients are often young or cognitively impaired, anesthesia is commonly used to limit motion artifacts. Our aim was to investigate the effect of anesthesia on the CVR in pediatric MMV. We compared the CVR with multidelay-ASL and BOLD MRI, using acetazolamide as a vascular stimulus, in all awake and anesthesia pediatric MMV scans at our institution. Since a heterogeneity in disease and treatment influences the CVR, we focused on the (unaffected) cerebellum. Ten awake and nine anesthetized patients were included. The post-acetazolamide CBF and ASL-CVR were significantly lower in anesthesia patients (47.1 ± 15.4 vs. 61.4 ± 12.1, p = 0.04; 12.3 ± 8.4 vs. 23.7 ± 12.2 mL/100 g/min, p = 0.03, respectively). The final BOLD-CVR increase (0.39 ± 0.58 vs. 3.6 ± 1.2% BOLD-change (mean/SD), p < 0.0001), maximum slope of increase (0.0050 ± 0.0040%/s vs. 0.017 ± 0.0059%, p < 0.0001), and time to maximum BOLD-increase (~463 ± 136 and ~697 ± 144 s, p = 0.0028) were all significantly lower in the anesthesia group. We conclude that the response to acetazolamide is distinctively different between awake and anesthetized MMV patients, and we hypothesize that these findings can also apply to other diseases and methods of measuring CVR under anesthesia. Considering that treatment decisions heavily depend on CVR status, caution is warranted when assessing CVR under anesthesia. Full article

(This article belongs to the Special Issue Diagnosis and Treatment of Moyamoya Disease)

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15 pages, 279 KiB

Open AccessArticle

The Development and Effect of Systemic Hypertension on Clinical and Radiological Outcome in Adult Moyamoya Angiopathy Following Revascularization Surgery: Experience of a Single European Institution

by Kristin Lucia, Güliz Acker, Kerstin Rubarth, Defne Beyaztas and Peter Vajkoczy

J. Clin. Med. 2023, 12(13), 4219; https://doi.org/10.3390/jcm12134219 - 23 Jun 2023

Cited by 1 | Viewed by 1425

Abstract

Patients with Moyamoya Angiopathy (MMA) display structurally altered vessels with decreased cerebral autoregulatory capacity, so aggressive lowering of systemic hypertension may aggravate ischemic symptoms, whereas uncontrolled hypertension may promote hemorrhage. This study provides an in-depth analysis of the role of hypertension in adult MMA patients including long-term analysis of clinical and radiological development. In this single-center retrospective analysis of 137 adult MMA patients with 206 surgically treated hemispheres angiographic images, clinical/operative data were reviewed and scored. Univariate Cox-regression analysis was performed to evaluate hypertension as a predictor for negative angiographic and clinical outcomes following revascularization surgery. A total of 50% of patients were being treated for hypertension prior to the first surgery. Patients with and without hypertension did not differ in terms of age, gender, diagnosis, symptom onset or disease severity (Berlin and Suzuki Grades). Although hypertension did not statistically significantly affect postoperative collaterals, moyamoya vessels or STA-MCA bypass patency, patients with hypertension showed higher rates of bypass patency and better bypass filling compared to those without hypertension. No significant differences in adverse events were found in patients with and without systemic hypertension and the presence of systemic hypertension was not found to predict negative clinical or radiological outcomes. In conclusion, the rate of systemic hypertension in MMA patients appears to be higher than the general population; however, this is not associated with an increased risk of postoperative complications or negative angiographic development following revascularization procedures. Systemic hypertension may also positively influence the rate of bypass patency and filling following revascularization procedures. Full article

(This article belongs to the Special Issue Diagnosis and Treatment of Moyamoya Disease)

14 pages, 2173 KiB

Open AccessArticle

Circulating Inflammatory Cytokine Associated with Poor Prognosis in Moyamoya Disease: A Prospective Cohort Study

by Wei Liu, Jian Sun, Zhiyong Shi, Zheng Huang, Lebao Yu, Haibin Du, Peicong Ge and Dong Zhang

J. Clin. Med. 2023, 12(3), 823; https://doi.org/10.3390/jcm12030823 - 19 Jan 2023

Cited by 4 | Viewed by 2019

Abstract

Inflammation is a key factor in the development of moyamoya disease. However, the cytokine distribution in moyamoya disease and its impact on prognosis remain unclear. A total of 204 patients with moyamoya disease were enrolled in this study. The peripheral blood was analyzed for baseline data and cytokines, which included IL-6, IL-1β, IL-2R, IL-8, and TNF-α. Patients with the RNF213 mutation and those without the mutation were compared in terms of their differences in cytokines. A mRS score ≥2 was defined as a poor prognosis, and a mRS score <2 was described as a good prognosis, and differences in cytokines were compared between the two groups. Regression analysis was performed to identify markers affecting prognosis. TNF-α and IL-6 levels were higher in the group without the RNF213 mutation compared to the mutation group. Multivariate stepwise regression analysis indicated that the G3 subgroup of IL-6 and the G4 subgroup of TNF-α were the independent risk factors for adverse prognosis in adults with moyamoya disease (OR 3.678, 95% CI [1.491, 9.074], p = 0.005; OR 2.996, 95% CI [1.180, 7.610], p = 0.021). IL-6 and TNF-α were associated with poor prognosis in adult patients with moyamoya disease. Full article

(This article belongs to the Special Issue Diagnosis and Treatment of Moyamoya Disease)

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23 pages, 2395 KiB

Open AccessArticle

Clinical Outcome, Cognition, and Cerebrovascular Reactivity after Surgical Treatment for Moyamoya Vasculopathy: A Dutch Prospective, Single-Center Cohort Study

by Pieter Thomas Deckers, Annick Kronenburg, Esther van den Berg, Monique M. van Schooneveld, Evert-Jan P. A. Vonken, Willem M. Otte, Bart N. M. van Berckel, Maqsood Yaqub, Catharina J. M. Klijn, Albert van der Zwan and Kees P. J. Braun

J. Clin. Med. 2022, 11(24), 7427; https://doi.org/10.3390/jcm11247427 - 14 Dec 2022

Cited by 2 | Viewed by 2191

Abstract

Background: It remains unclear whether revascularization of moyamoya vasculopathy (MMV) has a positive effect on cognitive function. In this prospective, single-center study, we investigated the effect of revascularization on cognitive function in patients with MMV. We report clinical and radiological outcome parameters and the associations between clinical determinants and change in neurocognitive functioning. Methods: We consecutively included all MMV patients at a Dutch tertiary referral hospital who underwent pre- and postoperative standardized neuropsychological evaluation, [¹⁵O]H₂O-PET (including cerebrovascular reactivity (CVR)), MRI, cerebral angiography, and completed standardized questionnaires on clinical outcome and quality of life (QOL). To explore the association between patient characteristics, imaging findings, and change in the z-scores of the cognitive domains, we used multivariable linear- and Bayesian regression analysis. Results: We included 40 patients of whom 35 (27 females, 21 children) were treated surgically. One patient died after surgery, and two withdrew from the study. TIA- and headache frequency and modified Rankin scale (mRS) improved (resp. p = 0.001, 0.019, 0.039). Eleven patients (seven children) developed a new infarct during follow-up (31%), five of which were symptomatic. CVR-scores improved significantly (p < 0.0005). The language domain improved (p = 0.029); other domains remained stable. In adults, there was an improvement in QOL. We could not find an association between change in imaging and cognitive scores. Conclusion: In this cohort of Western MMV patients, TIA frequency, headache, CVR, and mRS improved significantly after revascularization. The language domain significantly improved, while others remained stable. We could not find an association between changes in CVR and cognitive scores. Full article

(This article belongs to the Special Issue Diagnosis and Treatment of Moyamoya Disease)

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12 pages, 473 KiB

Open AccessArticle

Serum Kynurenic Acid and Kynurenine Are Negatively Associated with the Risk of Adult Moyamoya Disease

by Xiaofan Yu, Peicong Ge, Yuanren Zhai, Wei Liu, Qian Zhang, Xun Ye, Xingju Liu, Rong Wang, Yan Zhang, Jizong Zhao and Dong Zhang

J. Clin. Med. 2022, 11(23), 7069; https://doi.org/10.3390/jcm11237069 - 29 Nov 2022

Viewed by 2244

Abstract

Background and aim. Kynurenine (KYN) and kynurenic acid (KYNA) are key intermediate metabolites associated with inflammation and immune responses in the kynurenine pathway. It remains unknown whether KYN or KYNA is associated with the risk of adult moyamoya disease (MMD). The aim of this study was to prospectively investigate the association between serum KYN or KYNA and the risk of adult MMD. Methods. The study was conducted from July 2020 to December 2021. We measured serum KYN and KYNA levels for 360 adult MMD patients (259 cases of ischemic MMD, 101 cases of hemorrhagic MMD) and 89 age-sex-matched healthy controls. Clinical and laboratory characteristics were collected from the medical record. Results. After multivariate adjustment, decreased serum KYNA (OR, 0.085; 95% CI, 0.035–0.206; p = 0.000) or KYN (OR, 0.430; 95% CI, 0.225–0.820; p = 0.010) levels were associated with increased risk of MMD when upper and lower tertiles were compared. In addition, a higher trend of hemorrhagic MMD was found in MMD patients in KYNA tertile 1 compared with those in tertile 2 to 3 (OR, 0.584; 95% CI, 0.345–0.987; p = 0.044). Addition of serum KYNA (net reclassification improvement: 73.24%, p = 0.000; integrated discrimination improvement: 9.60%, p = 0.000) or KYN (integrated discrimination improvement: 1.70%, p = 0.037) to conventional risk factors significantly improved the risk prediction of MMD. In the exploratory analysis, we observed an interaction between KYN and age (≥40 versus <40 years) or homocysteine levels (≥13.0 versus <13.0 μmol/L) on the risk of MMD. Conclusions. Decreased serum KYNA or KYN levels were associated with an increased risk of adult MMD, suggesting that serum KYNA or KYN may be a valuable predictive biomarker for adult MMD. Full article

(This article belongs to the Special Issue Diagnosis and Treatment of Moyamoya Disease)

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