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Levels of neurofilament light chain protein in cerebrospinal fluid of spinal muscular atrophy patients treated with nusinersen (CROSBI ID 735326)

Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | domaća recenzija

Banović, Maria ; Berečić, Ivana ; Babić, Marija ; Španić, Ena ; Vukić, Vana ; Vogrinc, Željka ; Sertić, Jadranka ; Barišić, Nina ; Šimić, Goran Levels of neurofilament light chain protein in cerebrospinal fluid of spinal muscular atrophy patients treated with nusinersen // NeuRi Abstract Book / Kužnik Pokorn, Jona ; Krmpotić, Rea (ur.). Rijeka: Medicinski fakultet Sveučilišta u Rijeci, 2023. str. 41-41

Podaci o odgovornosti

Banović, Maria ; Berečić, Ivana ; Babić, Marija ; Španić, Ena ; Vukić, Vana ; Vogrinc, Željka ; Sertić, Jadranka ; Barišić, Nina ; Šimić, Goran

engleski

Levels of neurofilament light chain protein in cerebrospinal fluid of spinal muscular atrophy patients treated with nusinersen

Introduction In this study, we aimed to determine whether the levels of neurofilament light chain (NFL) in cerebrospinal fluid (CSF) change after nusinersen treatment of patients with spinal muscular atrophy (SMA). In addition, we examined the relationship between NFL levels and genetic biomarkers of SMA (the number of copies of the NAIP gene and the number of copies of the 7th exon of the SMN2 gene). In addition, we examined whether there is a correlation between CSF NFL levels and motor function assessment scale scores in SMA patients, disease classification, and disease duration. Materials and Methods In this research, thirty patients with SMA were treated at the University Hospital Centre in Zagreb. Before administering nusinersen, CSF samples were obtained via lumbar puncture. SMA patients' motor functions were measured using the CHOP-INTEND (The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders) scale and the HFMSE (The Hammersmith Functional Motor Scale Expanded) scale. The CHOP-INTEND scale was used to evaluate patients with SMA type 1, while the HFMSE scale was used to evaluate patients with SMA types 2 and 3. Using enzyme-linked immunosorbent assay analyses (ELISA, Enzyme-Linked Immunosorbent Assay), the protein concentrations in cerebrospinal fluid were determined. SPSS, version 19.0.1 (SPSS, Chicago, Illinois, United States) was used to analyze statistical data. Results CSF NFL levels moderately decreased in SMA patients after treatment with nusinersen, indicating that NFL protein is a moderately reliable biomarker for monitoring the response of SMA patients to nusinersen. NFL levels were negatively correlated with CHOP-INTEND scores and positively correlated with disease duration. There was no correlation between CSF NFL levels and genetic biomarkers of SMA and disease type. Discussion/Conclusion Since there was a negative correlation between NFL levels and the number of points on the CHOP-INTEND scale, NFL demonstrated statistical significance as a biomarker of favorable therapeutic response in SMA patients. Additionally, NFL levels were positively correlated with disease duration.

cerebrospinal fluid ; genetics ; motor functions ; neurofilament light chain ; nusinersen ; spinal muscular atrophy ; therapy

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nije evidentirano

nije evidentirano

nije evidentirano

Podaci o prilogu

41-41.

2023.

objavljeno

Podaci o matičnoj publikaciji

NeuRi Abstract Book

Kužnik Pokorn, Jona ; Krmpotić, Rea

Rijeka: Medicinski fakultet Sveučilišta u Rijeci

2623-6273

Podaci o skupu

12. Student Congress of Neuroscience – NeuRi 2023

poster

21.04.2023-23.04.2023

Rijeka, Hrvatska

Povezanost rada

Biologija, Biotehnologija u biomedicini (prirodno područje, biomedicina i zdravstvo, biotehničko područje), Kliničke medicinske znanosti, Kognitivna znanost (prirodne, tehničke, biomedicina i zdravstvo, društvene i humanističke znanosti), Temeljne medicinske znanosti