TY -的T1神经丝光及其与经典的幼儿筛疾病患者中枢神经系统参与摩根富林明-神经学乔-神经病学SP - e594 LP - e601做- 10.1212 / WNL。首页0000000000207482六世- 101 - 6盟Maarten j . Mackenbach盟Eline A.J.核非盟-简·j·范Dorpel盟Nadine A.M.E. van der发现非盟-乔迪Diaz-Manera盟Dimitris Rizopoulos AU -夏洛特Teunissen AU - Ans t·范德Ploeg盟Johanna议员van den胡特Y1 - 2023/08/08 UR - //www.ez-admanager.com/content/101/6/e594.abstract N2 -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,一个可继承首页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。收集的样本年龄& lt; 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。 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 with 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.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 ER -