@article {Mackenbach10.1212 / WNL。0000000000207482,作者= {M。j . Mackenbach和大肠A.J.核和j·j·范Dorpel和n A.M.E. van der发现和乔迪D{\ \我}az-Manera D . Rizopoulos和夏洛特Teunissen Ans T van der Ploeg和j .议员van den胡特},title ={神经丝光及其与患者中枢神经系统参与协会经典小儿疾病筛},elocation-id = {10.1212 / WNL。={2023}0000000000207482},年,doi = {10.1212 / WNL。出版商0000000000207482}= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={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,一个可继半岛投注体育官网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。 Control samples were originally collected as part of routine blood work in children that underwent small surgeries and stored in the biobank of the Erasmus MC/ Sophia Children{\textquoteright}s Hospital.Results: We analysed 74 serum samples of 17 patients collected at ages ranging from 22 days to 21.2 years (1-8 samples per patients) and compared these to outcomes of 71 matched peers.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.}, issn = {0028-3878}, URL = {//www.ebmtp.com/content/early/2023/06/16/WNL.0000000000207482}, eprint = {//www.ebmtp.com/content/early/2023/06/16/WNL.0000000000207482.full.pdf}, journal = {Neurology} }