scholarly journals Correction to: RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events

2021 ◽  
Author(s):  
Daiichiro Ishigami ◽  
Satoru Miyawaki ◽  
Hideaki Imai ◽  
Masahiro Shimizu ◽  
Hiroki Hongo ◽  
...  
Keyword(s):  
Moyamoya Disease ◽  
Early Onset ◽  
Cerebrovascular Events

RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events

2021 ◽  
Author(s):  
Daiichiro Ishigami ◽  
Satoru Miyawaki ◽  
Hideaki Imai ◽  
Masahiro Shimizu ◽  
Hiroki Hongo ◽  
...  
Keyword(s):  
Moyamoya Disease ◽  
Early Onset ◽  
Cerebrovascular Events

Abstract WP171: Surgical Strategy And Results Of Additional Bypass For Patients With Moyamoya Disease Refractory To Previous Surgery

Stroke ◽  
2013 ◽  
Vol 44 (suppl_1) ◽  
Author(s):  
Satoshi Kuroda ◽  
Naoki Akioka ◽  
Daina Kashiwazaki ◽  
Hideo Hamada ◽  
Naoya Kuwayama ◽  
...  
Keyword(s):  
Disease Progression ◽  
Moyamoya Disease ◽  
Bypass Surgery ◽  
Posterior Cerebral Artery ◽  
Cerebral Hemodynamics ◽  
Surgical Revascularization ◽  
Surgical Strategies ◽  
Cerebrovascular Events ◽  
Before And After

Introduction —It is well known that surgical revascularization can improve cerebral hemodynamics and prevent further ischemic cerebrovascular events in moyamoya disease. However, a certain subgroup of patients repeats ischemic attacks even after surgery because of insufficient surgery or disease progression during follow-up periods. Hypothesis —Relevant designs and techniques in additional bypass surgery can resolve ischemic cerebrovascular events in patients with moyamoya disease refractory to previous bypass surgery. Methods —This study included totally 7 patients (9 hemispheres) with moyamoya disease refractory to previous bypass surgery. There were 5 children and 2 adults. They underwent previous bypass surgery in Japan and Europe 6 to 240 months before admission. Based on precise clinical and radiological analysis, cerebrovascular events were considered to occur because of insufficient bypass surgery in 5 patients and disease progression in the ipsilateral posterior cerebral artery in 2. Surgical strategies included wide craniotomy to cover the area where cerebral hemodynamics is still impaired and appropriate bypass procedures such as STA-MCA anastomosis, OA-PCA anastomosis, and indirect bypass. Using [123]I-IMP SPECT or [15]O-gas PET, cerebral hemodynamics was precisely examined before and after surgery Results —Postoperative course was uneventful and cerebral hemodynamics significantly improved in all 7 patients. Postoperative cerebral angiography revealed that additional bypass provided collateral blood flow to ischemic area before surgery. Ischemic cerebrovascular events rapidly resolved in 5 patients and gradually decreased in 2. Conclusion —This study strongly suggests adequate surgical design and procedures can resolve ischemic cerebrovascular events in patients with moyamoya disease refractory to previous bypass surgery.

Abstract 84: Late (5-20 Years) Outcome After STA-MCA Anastomosis and Ultimate Indirect Bypass in Patients With Moyamoya Disease

Stroke ◽  
2020 ◽  
Vol 51 (Suppl_1) ◽  
Author(s):  
Satoshi Kuroda ◽  
Naoki Nakayama ◽  
Shusuke Yamamoto ◽  
Daina Kashiwazaki ◽  
Haruto Uchino ◽  
...  
Keyword(s):  
Disease Progression ◽  
Moyamoya Disease ◽  
Hemorrhagic Stroke ◽  
Short Term ◽  
Post Surgery ◽  
Initial Surgery ◽  
Cerebrovascular Events ◽  
Late Morbidity

Background and Purpose: Surgical revascularization is now known to improve the outcome in patients with moyamoya disease. However, majority of previous studies reported their short-term (<5 years) outcome. Therefore, this study was aimed to evaluate long-term (5 to 20 years) outcome after STA-MCA anastomosis and ultimate indirect bypass, encephalo-duro-myo- arterio-pericranial synangiosis (EDMAPS). Methods: Cumulative incidence of late morbidity/mortality and disease progression were evaluated among 93 patients who underwent STA-MCA anastomosis and EDMAPS. All of them were prospectively followed up for longer than 5 years post-surgery (mean, 10.5±4.4 years). There were 35 pediatric and 58 adult patients. Clinical diagnosis included TIA or ischemic stroke in 80 patients, hemorrhagic stroke in 10, and asymptomatic in 3. STA-MCA anastomosis and EDMAPS were performed onto their 141 hemispheres. MRI and MRA were performed every 6 or 12 years during follow-up periods. Results: During follow-up periods, 92/93 patients were free from any stroke or death, but one recurred hemorrhagic stroke (0.10% per patient-year). Disease progression occurred in the territory of the contralateral carotid or posterior cerebral artery (PCA) in 19 hemispheres of 15 patients (1.5% per patient-year). The interval between initial surgery and disease progression varied from 0.5 to 15 years. Repeat bypass surgery for anterior and posterior circulations resolved ischemic attacks in all 10 patients. Conclusion: STA-MCA anastomosis and EDMAPS would be the best choice to prevent further cerebrovascular events for longer than 10 years by widely providing surgical collaterals to both the MCA and ACA territories. However, regular follow-up would be essential for longer than 10 years post-surgery to identify the disease progression in the territory of contralateral carotid artery and PCA and prevent late cerebrovascular events.

Homozygous c.l4576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease

Neurology ◽  
2012 ◽  
Vol 78 (11) ◽  
pp. 803-810 ◽  
Author(s):  
S. Miyatake ◽  
N. Miyake ◽  
H. Touho ◽  
A. Nishimura-Tadaki ◽  
Y. Kondo ◽  
...  
Keyword(s):  
Moyamoya Disease ◽  
Early Onset ◽  
Severe Form

scholarly journals Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease

2016 ◽  
Vol 124 (5) ◽  
pp. 1221-1227 ◽  
Author(s):  
Eun-Hee Kim ◽  
Mi-Sun Yum ◽  
Young-Shin Ra ◽  
Jun Bum Park ◽  
Jae Sung Ahn ◽  
...  
Keyword(s):  
Cerebral Infarction ◽  
Moyamoya Disease ◽  
Early Onset ◽  
Susceptibility Gene ◽  
Additional Patient ◽  
Control Group ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Korean Patients

OBJECT Moyamoya disease (MMD) is an idiopathic cerebrovascular occlusive disorder prevalent in East Asia. In the pathogenesis of MMD, the important role of genetic factors is being elucidated, and RNF213 has recently been identified as a susceptibility gene for MMD. The aim of this retrospective study was to investigate the RNF213 genotype in patients with MMD and to determine their genotype-phenotype associations. METHODS The study involved 165 Korean MMD patients from 155 unrelated families who were diagnosed with MMD at a single center from 1995 to 2013. Their demographic, radiological, and clinical findings were evaluated. Direct sequencing of the major RNF213 single nucleotide polymorphisms was performed. The association of the common RNF213 variant with MMD risk was evaluated using historical controls for comparison. Correlations between RNF213 genotype and phenotype were statistically analyzed. RESULTS The c.14429G>A (p.R4810K) variant was identified in 125 (75.8%) of 165 MMD patients. Most patients (112) were heterozygous, and 13 patients had 2 copies of the c.14429G>A variant. A novel heterozygous variant, c.12086A>G (p.Q4029R), was found in 1 additional patient. The minor allele frequency of the c.14429G>A variant was significantly higher in the MMD group (138 [41.8%] of 330 patients) than in the control group (8 [1.36%] of 588 subjects; p < 0.001). The c.14429G>A (p.R4810K) variant significantly increased the risk of MMD in Korean patients, with an OR of 52.11 (p < 0.001) compared with controls. Moreover, c.14429G>A (p.R4810K) genotypes occurred more frequently in patients with a family history of MMD. The homozygous variant was highly associated with early-onset MMD (age at onset < 5 years), cerebral infarction at diagnosis, and cognitive impairment in long-term outcome. CONCLUSIONS The findings indicate that the c.14429G>A (p.R4810K) allele of RNF213 is strongly associated with Korean patients with MMD. The homozygous c.14429G>A (p.R4810K) variant is particularly related to early-onset MMD, severe symptomatic manifestations at diagnosis, and poor prognosis. This genotypic variant may be a useful biomarker for early-onset MMD or unstable MMD with cerebral infarction, which requires early diagnosis and revascularization treatment.

Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients

2021 ◽  
pp. 1-9
Author(s):  
Shoko Hara ◽  
Maki Mukawa ◽  
Hiroyuki Akagawa ◽  
Thiparpa Thamamongood ◽  
Motoki Inaji ◽  
...  
Keyword(s):  
Moyamoya Disease ◽  
Surgical Outcomes ◽  
Clinical Presentation ◽  
Rare Variants ◽  
Disease Onset ◽  
Japanese Patients ◽  
Severe Form ◽  
Onset Age ◽  
Cerebrovascular Events ◽  
Heterozygous Variant

OBJECTIVE The authors’ objective was to investigate the influence of the RNF213 p.R4810K variant on the clinical presentation and outcomes of Japanese pediatric patients with moyamoya disease. METHODS A total of 129 Japanese patients with pediatric-onset moyamoya disease (onset age ≤ 15 years) who visited the authors’ department from 2012 to 2020 participated in this study. After RNF213 p.R4810K genotyping of each patient was performed, the relationship between genotype and clinical presentation or outcomes, including onset age, initial presentation, surgical outcomes, and subsequent cerebrovascular events, was evaluated. Patients without the p.R4810K variant were tested for RNF213 variants other than p.R4810K. The authors especially focused on the results of patients who presented with moyamoya disease at younger than 1 year of age (infantile onset). RESULTS Compared with the patients with heterozygous variants, patients without the p.R4810K variant were younger at onset (7.1 ± 3.7 vs 4.4 ± 0.9 years), and all 4 patients with infantile onset lacked the p.R4810K variant. A greater proportion of patients without the p.R4810K variant presented with infarction than patients with the heterozygous variant (24.0% vs 7.6%) and a decreased proportion presented with transient ischemic attack (36.0% vs 71.7%). No significant correlation was observed between p.R4810K genotype and clinical outcomes, including surgical outcomes and subsequent cerebrovascular events; however, a decreased proportion of patients without the p.R4810K variant had good surgical outcomes compared with that of patients with the heterozygous variant (76.5% vs 92.2%). Among the 25 patients without the p.R4810K variant, 8 rare variants other than p.R4810K were identified. Three of 4 patients with infantile onset had RNF213 variants other than p.R4810K, which had a more severe functional effect on this gene than p.R4810K. CONCLUSIONS Absence of the RNF213 p.R4810K variant may be a novel biomarker for identification of a severe form of pediatric moyamoya disease.

scholarly journals Postpartum-Onset Moyamoya Disease: A Rare Cause of Stroke in Unexpected

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Muhammet Ozer ◽  
Khadija Merchant ◽  
Zulfiya Manning ◽  
Suleyman Yasin Goksu ◽  
Kirti Juneja ◽  
...  
Keyword(s):  
Moyamoya Disease ◽  
The United States ◽  
African American Female ◽  
Presenting Symptoms ◽  
Cerebrovascular Events ◽  
Acceptable Method ◽  
Cerebrovascular Occlusive Disease ◽  
Stenosis And Occlusion

Moyamoya disease (MMD) is a chronic cerebrovascular occlusive disease that is characterized by progressive bilateral stenosis of the terminal portion of the internal carotid artery and its main branches. Cerebrovascular events are the primary presenting symptoms and are related both to stenosis and occlusion of the ICAs and their main branches. Detection of bilateral stenosis by cerebral angiography is considered the gold standard, but computed tomography angiography (CTA) is also an acceptable method of diagnosis. In the current literature, there are no precise data on the incidence of moyamoya disease in Europe and the United States. Also, the pathogenesis of MMD remains obscure, and genetic factors and inflammation are the two most representative mechanisms. Here, we report the case of MMD in a 29-year-old African American female who presented with an ischemic stroke for the second time that manifested after pregnancy. This case is important to increase awareness of the probability of this rare disease in Western countries as well as to call attention to pregnancy’s accelerating effects of MMD. Careful, long-term neurologic and radiologic follow-up is essential in adult patients with MMD to prevent additional stroke events and improve outcomes.

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