Characterization of Moyamoya and Middle Cerebral Artery Diseases by Carotid Canal Diameter and RNF213 p.R4810K Genotype
Characterization of Moyamoya and Middle Cerebral Artery Diseases by Carotid Canal Diameter and RNF213 p.R4810K Genotype
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DOI：
10.1016/j.jstrokecerebrovasdis.2022.106481
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发表时间：
2022-04-15
影响因子：
2.5
通讯作者：
Miyamoto，Susumu
中科院分区：
文献类型：
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作者：
Oichi，Yuki;Mineharu，Yohei;Miyamoto，Susumu
大脑中动脉疾病和烟雾病有时很难鉴别，因为两者表现相似，但治疗策略不同。我们调查是否存在狭窄的颈动脉管和theNF 213突变可以帮助区分两个phenotype.Population和MethodsWe分析了78例烟雾病，27例大脑中动脉疾病，和79个控制从2设施。采用计算机断层扫描测量颈动脉管直径。通过TaqMan分析对p.R4810K突变进行基因分型。接受者的操作特性分析进行评估的意义，颈动脉管直径烟雾病的准确诊断。ResultsThe颈动脉管直径显着狭窄烟雾病患者比对照组。成年男性的最佳截止值为5.0 mm，成年女性和儿童的最佳截止值为4.5 mm（敏感性：0.82;特异性：0.92）。在患有大脑中动脉疾病的患者中，18.5%和25.0%的受影响半球具有p.R4810K突变和狭窄的通道（即，低于临界值），而只有3.1%的人两者都有。相比之下，68.8%的烟雾病患者的大脑半球同时具有这两种特征。在烟雾病的患者中，那些与p.R4810K突变倾向于有狭窄的颈动脉canals.ConclusionsAlthough狭窄的颈动脉管或p.R4810K突变的存在单独不能用来区分烟雾病与大脑中动脉疾病，这些因素的组合可以更好地表征这两种表型。
ObjectivesIt is sometimes difficult to differentiate middle cerebral artery disease from moyamoya disease because the two can present similarly yet have different treatment strategies. We investigated whether the presence of a narrow carotid canal and theRNF213mutation can help differentiate between the two phenotypes.Population and MethodsWe analyzed 78 patients with moyamoya disease, 27 patients with middle cerebral artery disease, and 79 controls from 2 facilities. The carotid canal diameter was measured using computed tomography. The p.R4810K mutation was genotyped by TaqMan assay. A receiver operating characteristics analysis was performed to assess the significance of the carotid canal diameter for the accurate diagnosis of moyamoya disease.ResultsThe carotid canal diameter was significantly narrower in patients with moyamoya disease than in controls. The optimal cutoff values were 5.0 mm for adult males and 4.5 mm for adult females and children (sensitivity: 0.82; specificity: 0.92). Among the patients with middle cerebral artery disease, 18.5% and 25.0% of the affected hemispheres had the p.R4810K mutation and narrow canal (i.e., below the cutoff), respectively, whereas only 3.1% of those had both. Contrastingly, 68.8% of the affected hemispheres in patients with moyamoya disease had both these characteristics. Among the patients with moyamoya disease, those with the p.R4810K mutation tended to have narrower carotid canals.ConclusionsAlthough the presence of a narrow carotid canal or the p.R4810K mutation alone could not be used to distinguish those with moyamoya disease from those with middle cerebral artery disease, the combination of these factors could better characterize the two phenotypes.