中国实用神经疾病杂志2024，Vol.27Issue(8)：975-980,6.DOI:10.12083/SYSJ.231440
脑脊液NF-L pNF-H与脊髓性肌萎缩症患者病情严重程度及治疗的相关性
Correlation of cerebrospinal fluid NF-L and pNF-H with the condition and treatment of patients with spinal muscular atrophy
徐丹丹 1周瑞 1王磊 1臧欢欢 1诸宏伟 1刁艳霞 1关艳春 1岳倩文 1夏群 1张微笑1
作者信息
- 1. 蚌埠医科大学第一附属医院,安徽 蚌埠 233004
- 折叠
摘要
Abstract
Objective To investigate the correlation between cerebrospinal fluid neurofilament protein light chain(NF-L)and phosphorylated neurofilament protein heavy chain(pNF-H)levels and the condition and treatment of SMA patients.Methods Twenty-two children diagnosed with spinal muscular atrophy(SMA)and treated with sodium nusinersen(Nusinersen)in the Department of Paediatrics of the First Affiliated Hospital of Bengbu Medical College were selected as the study subjects between February 2022 and August 2023.Basic information such as gender,genetic test results,disease typing,age of treatment initiation,age of onset of disease,and duration of disease before treatment initiation were collected.Cerebrospinal fluid(CSF)specimens were collected before intrathecal injection of Nusinersen sodium and cerebrospinal fluid NF-L and pNF-H levels were measured,and the motor function in children with SMA was assessed by the Hammersmith functional motor scale expanded(HFMSE)and revised upper limb module(RULM).The variability of cerebrospinal fluid NF-L and pNF-H levels at the start of treatment in children with SMA were compared,and the correlation between the levels of cerebrospinal fluid NF-L and pNF-H and the age at the beginning of treatment,the duration of disease before treatment and motor function was analyzed,and the variability of CSF NF-L,pNF-H levels during treatment were compared.Results CSF NF-L levels were differentiated between children with type Ⅱ versus type Ⅲ SMA(438.15±163.41 vs 283.47±108.11,t=2.123,P=0.047),which was negatively correlated with HFMSE score(r=-0.521,P=0.15)and RULM score(r=-0.528,P=0.014)in children with type Ⅱ and typeⅢ SMA,and produced a difference after treatment with nociceptive sodium(381.21±166.80 vs 284.94±150.08 vs 194.53±91.09,Z=23.684,P<0.001).CSF pNF-H levels did not differ statistically between patients with type Ⅱand type Ⅲ SMA(335.04±110.30 vs 251.64±146.64,P>0.05),and were negatively correlated with HFMSE score(r=-0.471,P=0.31)and RULM score(r=-0.577,P=0.006)in children with type Ⅱ and type Ⅲ SMA,and produced a difference in the children treated with nocinafosine sodium(306.71±128.85 vs 179.64±69.28 vs 130.85±49.60,Z=22.842,P<0.001).Conclusion The levels of NF-L and pNF-H in cerebrospinal fluid is negatively correlated with the severity of SMA and decrease after treatment with nusinersen.关键词
脊髓性肌萎缩/神经丝蛋白轻链/磷酸化神经丝蛋白重链/诺西那生钠Key words
Spinal Muscular Atrophy/Neurofilament protein light chain/Phosphorylated neurofilament protein heavy chain/Nusinersen分类
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徐丹丹,周瑞,王磊,臧欢欢,诸宏伟,刁艳霞,关艳春,岳倩文,夏群,张微笑..脑脊液NF-L pNF-H与脊髓性肌萎缩症患者病情严重程度及治疗的相关性[J].中国实用神经疾病杂志,2024,27(8):975-980,6.
