RT期刊文章SR电子T1神经丝光及其与患者中枢神经系统参与协会经典小儿神经学疾病筛摩根富林明乔神经病学FD Lippincott Williams &威尔金斯10.1212 SP / WNL。半岛投注体育官网0000000000207482 10.1212 / WNL。0000000000207482 A1 m . j . Mackenbach A1大肠A.J.核A1 j·j·范Dorpel A1 n A.M.E. van der发现A1乔迪Diaz-Manera A1 d Rizopoulos A1夏洛特Teunissen A1 Ans T van der Ploeg A1 j .议员van den胡特年2023 UL //www.ebmtp.com/content/early/2023/06/16/WNL.00000半岛投注体育官网00000207482.abstract AB背景和目标:酶替代疗法(ERT)已经大大改进了经典的小儿疾病筛的结果,一个可继承的肌肉疾病之前致命的初级阶段。然而,在治疗,患者出现脑白质异常(WMA)和神经认知问题。因此,大脑也即将到来的治疗目标。目前生物标志物反映中枢神经系统的参与缺乏。我们旨在研究协会神经丝光和中枢神经系统的参与。方法:调查NfL的潜力,我们分析了经典的小儿患者的血清样本筛与ERT疾病治疗。收集到的样本的年龄< 1、5和10年,以及在核磁共振扫描。我们比较结果在年龄和性别匹配的同行水平。控制样品最初收集儿童血常规工作的一部分,接受小手术并存储在伊拉斯谟的生物MC /索菲娅儿童医院。结果:我们分析了17个病人收集的74份血清样本年龄从22天到21.2年(1 - 8每病人样本)和71年相比,这些结果与同行。In the first year of age NfL levels in patients and controls were similar (10.3 vs. 11.0 pg/ml), but mixed linear model analysis showed a yearly increase of NfL of 6.0% in patients, compared to a decrease of 8.8% in controls (p < 0.001). Higher NfL was associated with lower IQ scores (p = 0.009) and lower processing speed scores (p = 0.001).Discussion: We found significant differences in NfL levels between patients and controls, and a good association between NfL and cognition. NfL deserves further exploration as a biomarker for CNS involvement in patients with classic infantile Pompe disease.