% 0期刊文章% Maarten j . Mackenbach % Eline A.J.核% 1月正当van den Dorpel % Nadine A.M.E. van der发现%乔迪Diaz-Manera %一个夏洛特Teunissen Dimitris Rizopoulos % %一个Ans T·范德Ploeg % Johanna议员van den胡特% T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% D R 10.1212 / WNL 2023%。0000000000207482 % J首页神经病学% P e594-e601 % V 101% N 6% X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(NfL)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、10年,以及在核磁共振扫描。我们比较结果与水平的年龄——sex-matched同行。控制样品最初收集的血常规工作的孩子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样本每个病人)和比较这些结果为71的同辈。第一年的年龄,NfL水平的病人和对照组(10.3 vs 11.0 pg / mL)相似,但混合线性模型分析显示,每年增加的NfL在患者的6.0%,相比之下,在控制减少8.8% (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.BBB=blood-brain barrier; CLN2=ceroid lipofuscinosis type 2; CRIM=cross-reactive immunologic material; DQ=developmental quotient; ERT=enzyme replacement therapy; GAA=acid α-glucosidase; GSDII=glycogen storage disease type II; IgG=immunoglobulin G; MLD=metachromatic leukodystrophy; NfL=neurofilament light; PS=processing speed; Simoa=single molecule array; WAIS-IV=Wechsler Adult Intelligence Scale–Fourth Edition; WISC-III/WISC-V=Wechsler Intelligence Scales for Children, Third/Fifth Edition; WMA=white matter abnormalities; WPPSI=Wechsler Preschool and Primary Scale of Intelligence %U //www.ez-admanager.com/content/neurology/101/6/e594.full.pdf