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首页> 外文期刊>European journal of neurology: the official journal of the European Federation of Neurological Societies >Factors predictive of the presence of a CSF1R CSF1R mutation in patients with leukoencephalopathy
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Factors predictive of the presence of a CSF1R CSF1R mutation in patients with leukoencephalopathy

机译：在白细胞病患者中预测CSF1R CSF1R突变的存在预测的因素

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Background and purpose The purpose was to identify statistically factors that correlate with the presence of a colony‐stimulating factor 1 receptor ( CSF1R ) mutation and to reevaluate the accuracy of the current diagnostic criteria for CSF1R ‐related leukoencephalopathy. Methods CSF1R testing was conducted on 145 consecutive leukoencephalopathy cases who were clinically suspected of having adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia. From these, 135 cases whose detailed clinical information was available were enrolled. Forward logistic stepwise regression was performed to generate a probability model to predict a positive CSF1R mutation result. The current diagnostic criteria were also applied to our cohort and their sensitivity and specificity were calculated. Results Twenty‐eight CSF1R ‐mutation‐positive cases and 107 CSF1R ‐mutation‐negative cases were identified. Our probability model suggested that factors raising the probability of a CSF1R ‐mutation‐positive result were younger onset, parkinsonism, thinning of the corpus callosum and diffusion‐restricted lesions. It also showed that involuntary movements and brainstem or cerebellar atrophy were negative predictors of a CSF1R ‐mutation‐positive result. In our cohort, the sensitivity and specificity for ‘probable’ or ‘possible’ CSF1R ‐related leukoencephalopathy were 81% and 14%, respectively. Conclusions Clinical and brain imaging features predictive of the presence of a CSF1R mutation are proposed. Consideration of these factors will help prioritize patients for CSF1R testing.
机译：背景和目的目的是识别与菌落刺激因子1受体（CSF1R）突变的存在相关的统计因素，并重新评估CSF1R相关的白细胞病变的当前诊断标准的准确性。方法CSF1R测试是在145个连续的白细胞病病例中进行，他们在临床上怀疑具有与轴突球体和着色的胶质胶质的成人发作的白细胞病变。从这些，注册了135例详细临床信息。执行前向逻辑逐步回归以产生概率模型以预测正CSF1R突变结果。目前的诊断标准也适用于我们的队列，并计算它们的敏感性和特异性。结果鉴定了二十八个CSF1R - 阳性案例和107个CSF1R utiggation阴性病例。我们的概率模型表明，提高CSF1R-Sutiggess阳性结果的可能性的因素是较年轻的发病，帕金森，胼um和扩散限制病变的稀释。它还表明，非自愿运动和脑干或小脑萎缩是CSF1R utiggation阳性结果的负预测因子。在我们的队列中，“可能”或“可能”CSF1R-Reled LeukocenceShate的敏感性和特异性分别为81％和14％。结论提出了提出了预测CSF1R突变的存在的临床和脑成像特征。对这些因素的考虑将有助于优先考虑CSF1R测试的患者。

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