Impact of posterior cerebral artery involvement on long-term clinical and social outcome of pediatric moyamoya disease

Funaki, Takeshi; Takahashi, Jun; Takagi, Yasushi; Yoshida, Kazumichi; Araki, Yoshio; Kikuchi, Takayuki; Kataoka, Hiroharu; Iihara, Koji; Miyamoto, Susumu

doi:10.3171/2013.9.peds13111

Cited by 67 publications

(50 citation statements)

References 38 publications

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“…23,24 Several studies have demonstrated that the prevalence of PCA involvement in MMD was 18.1%-36.2% in pediatric patients and 21.2%-43.4% in adult patients at initial diagnosis. [24][25][26] Our study showed similar results. In addition, Kim and Kim 11 found that PCA territorial involvement was more frequently observed in RNF213-positive patients than in RNF213-negative patients.…”

Section: Discussionsupporting

confidence: 84%

Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease

et al. 2020

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ObjectivePrecise genetic analyses were conducted with ring finger protein 213 (RNF213) in relation to a particular clinical phenotype in Chinese patients with moyamoya disease (MMD) to determine whether heterozygosity is responsible for the early-onset and severe form of this disease.MethodsA case–control study for RNF213 p.R4810K involving 1,385 Chinese patients with MMD and 2,903 normal control participants was performed. Correlation analyses between genotype and phenotype or different clinical features were also statistically explored.ResultsAn obvious trend was observed: the carrying rate of RNF213 p.R4810K gradually decreased when moving from coastal cities in northeast, north, and east China to southern cities or inland areas. Higher frequencies of p.R4810K were observed in patients with MMD compared with control participants (odds ratio, 48.1; 95% confidence interval, 29.1–79.6; p = 1.6 × 10−141). In addition, the onset age of all patients with the GA and AA genotypes were lower than with the GG genotype, and the median onset age was 40.0, 36.0, and 11.5 years with GG, GA, and AA, respectively, thereby confirming that those with GA or AA could acquire MMD during early life stages. Patients with MMD with the GA genotype were more susceptible to posterior cerebral artery (PCA) involvement compared to those with the GG genotype (38.4% vs 23.3%, p = 8.3 × 10−7).ConclusionsStrong evidence suggests that the carrying rate of RNF213 p.R4810K is closely related MMD risk in China and has given rise to an earlier onset age and more severe PCA involvement.

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Section: Discussionsupporting

confidence: 84%

Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease

et al. 2020

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“…In Asian patients, Funaki et al . drew attention to PCA involvement as one of the risk factors for worse social outcome in pediatric MMD. Nevertheless, the clinical correlate of PCA involvement is currently unknown for MMD patients independent of their ethnic background.…”

Section: Discussionmentioning

confidence: 99%

Distinct clinical and radiographic characteristics of moyamoya disease amongst European Caucasians

Acker

Goerdes

Schneider

et al. 2015

Euro J of Neurology

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“…Our surgical procedures and treatment protocol are described in previous literature. 5,12,13 Antiplatelet agents, if administered, were discontinued for 3 days before surgery and 2 days after surgery.…”

Section: Surgerymentioning

confidence: 99%

Unstable moyamoya disease: clinical features and impact on perioperative ischemic complications

Funaki¹,

Takahashi²,

Takagi³

et al. 2015

JNS

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A mAjor characteristic of moyamoya disease is the chronic progression of stenosis in the terminal portion of the internal carotid artery (ICA). 24 The rate of this progression varies by patient. Angiographic progression can occur in one-half of pediatric patients and one-quarter of adult patients, 19,21 while angiographic findings in the remaining patients are stable for years. Some patients demonstrate extremely rapid progression from disease onset, resulting in poor outcome. obJect Unstable moyamoya disease, reasonably defined as cases exhibiting either rapid disease progression or repeated ischemic stroke, represents a challenge in the treatment of moyamoya disease. Despite its overall efficacy, direct bypass for such unstable disease remains controversial in terms of safety. This study aims to reveal factors associated with unstable disease and to assess its impact on postoperative silent or symptomatic ischemic lesions. methods This retrospective cohort study included both pediatric and adult patients with moyamoya disease who had undergone 140 consecutive direct bypass procedures at Kyoto University Hospital. "Unstable moyamoya disease" was defined as either the rapid progression of a steno-occlusive lesion or repeat ischemic stroke, either occurring within 6 months of surgery. The extent of progression was determined through a comparison of the findings between 2 different MR angiography sessions performed before surgery. The clinical variables of the stable and unstable disease groups were compared, and the association between unstable disease and postoperative diffusion-weighted imaging (DWI)-detected lesion was assessed through univariate and multivariate analyses with generalized estimating equations. results Of 134 direct bypass procedures performed after patients had undergone at least 2 sessions of MR angiography, 24 (17.9%) were classified as cases of unstable disease. Age younger than 3 years (p = 0.029), underlying disease causing moyamoya syndrome (p = 0.049), and radiographic evidence of infarction (p = 0.030) were identified as factors associated with unstable disease. Postoperative DWI-defined lesions were detected after 13 of 140 procedures (9.3%), although only 4 lesions (2.9%) could be classified as a permanent complication. coNclusioNs Unstable moyamoya disease, more prevalent in younger patients and those with underlying disease, is a possible risk factor for perioperative ischemic complications. Recognition of unstable moyamoya disease may contribute to an improved surgical result through focused perioperative management based on appropriate surgical risk stratification.

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Impact of posterior cerebral artery involvement on long-term clinical and social outcome of pediatric moyamoya disease

Cited by 67 publications

References 38 publications

Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease

Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease

Distinct clinical and radiographic characteristics of moyamoya disease amongst European Caucasians

Unstable moyamoya disease: clinical features and impact on perioperative ischemic complications

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