Journals / Journal of Medicine and Palliative Care / 2025 / Volume: 6 Issue: 6

Clinical utility of serum neurofilament light chain in multiple sclerosis: diagnostic accuracy and phenotypic differentiation

Multipl sklerozda serum nörofilament hafif zincirinin klinik faydası: tanısal doğruluk ve fenotipik farklılaşma

Hayat Güven(Etlik Şehir Hastanesi)0000-0002-9135-639X
Bülent Güven(Etlik Şehir Hastanesi)0000-0002-4816-9257
Uğurcan Eker(Etlik Şehir Hastanesi)0000-0001-8909-3327
Alpaslan Öztürk(Etlik Şehir Hastanesi)0000-0003-4525-3477
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Publication Date
2025-12-27
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Its integration into routine biochemical assessments may enhance early diagnosis, disease monitoring and prognostication.

📌 3 Key Takeaways

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Objective & Hypothesis:Aims: Multiple sclerosis (MS) is a progressive, heterogeneous, neuroinflammatory, and neurodegenerative disease, and predicting both short- and long-term prognoses is challenging.
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Key Findings & Data:Methods: The study included 86 age- and sex-matched MS patients and 86 healthy controls.
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Conclusion & Impact:Its integration into routine biochemical assessments may enhance early diagnosis, disease monitoring and prognostication.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Biomarker · demyelinating diseases · disease progression

Abstract

Aims: Multiple sclerosis (MS) is a progressive, heterogeneous, neuroinflammatory, and neurodegenerative disease, and predicting both short- and long-term prognoses is challenging. This study aimed to evaluate the diagnostic and phenotypic value of serum neurofilament light chain (sNfL) levels in patients with MS and to examine the relationship between these levels and clinical and laboratory parameters. Methods: The study included 86 age- and sex-matched MS patients and 86 healthy controls. Serum samples were analyzed using a commercial ELISA kit to measure the sNfL levels. Routine biochemistry and complete blood count results were recorded. Logistic regression, correlation analyses, ROC curves, and partial least squares discriminant analysis (PLS-DA) were used to assess the diagnostic accuracy and phenotypic discrimination of all data. Results: sNfL levels were significantly higher in patients with MS than in healthy controls (median 21.2 vs. 4.21 ng/L; p<0.001). In the multivariate analysis, sNfL was an independent predictor of MS (OR=1.20; p=0.002). ROC analysis revealed an AUC of 0.856; a cut-off value above 14.9 ng/L provided 61% sensitivity and 94% specificity. PLS-DA showed that sNfL was the strongest discriminatory variable among the other laboratory parameters. In phenotype analysis, sNfL levels were significantly higher in the progressive MS group than in the relapsing-remitting MS group (61.6 vs. 14.0 ng/L; p<0.001), and ROC analysis showed excellent performance in phenotype discrimination (AUC=0.92; threshold=32.9 ng/L). Conclusion: sNfL is a powerful and independent biomarker for the diagnosis of MS and the differentiation of the progressive phenotype. Its integration into routine biochemical assessments may enhance early diagnosis, disease monitoring and prognostication.

Özet

Amaç: Multipl skleroz (MS), ilerleyici, heterojen, nöroinflamatuar ve nörodejeneratif bir hastalıktır ve hem kısa hem de uzun vadeli prognozu tahmin etmek zordur. Bu çalışma, MS hastalarında serum nörofilament hafif zincir (sNfL) düzeylerinin tanısal ve fenotipik değerini değerlendirmeyi ve bu düzeyler ile klinik ve laboratuvar parametreleri arasındaki ilişkiyi incelemeyi amaçlamaktadır. Gereç ve Yöntemler: Çalışmaya yaş ve cinsiyet uyumlu 86 MS hastası ve 86 sağlıklı kontrol dahil edildi. Serum örnekleri, sNfL düzeylerini ölçmek için ticari bir ELISA kiti kullanılarak analiz edildi. Rutin biyokimya ve tam kan sayımı sonuçları kaydedildi. Tüm verilerin tanısal doğruluğunu ve fenotipik ayrımını değerlendirmek için lojistik regresyon, korelasyon analizleri, ROC eğrileri ve kısmi en küçük kareler ayırıcı analizi (PLS-DA) kullanıldı. Bulgular: sNfL düzeyleri MS'li hastalarda sağlıklı kontrollere kıyasla anlamlı derecede daha yüksekti (medyan 21.2–4.21 ng/L; p<0.001). Çok değişkenli analizde, sNfL MS'nin bağımsız bir öngörücüsüydü (OR=1.20; p=0.002). ROC analizi 0.856'lık bir AUC ortaya koydu; 14.9 ng/L'nin üzerindeki bir kesme değeri %61 duyarlılık ve %94 özgüllük sağladı. PLS-DA, sNfL'nin diğer laboratuvar parametreleri arasında en güçlü ayırt edici değişken olduğunu gösterdi. Fenotip analizinde, sNfL düzeyleri ilerleyici MS grubunda relapsing-remitting MS grubuna kıyasla anlamlı derecede daha yüksekti (61.6–4.0 ng/L; p<0.001) ve ROC analizi fenotip ayrımında mükemmel performans gösterdi (AUC=0.92; eşik=32.9 ng/L). Sonuç: sNfL, MS tanısı ve ilerleyici fenotipin ayırt edilmesi için güçlü ve bağımsız bir biyobelirteçtir. Rutin biyokimyasal değerlendirmelere entegre edilmesi, erken tanı, hastalık takibi ve prognoz belirlemeyi kolaylaştırabilir.

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Cite This Article

Bozkürk, M. B., Güven, H., Güven, B., Ertürk, F. A., Eker, U., Çiçek, B. O., Öztürk, A. (2025). Clinical utility of serum neurofilament light chain in multiple sclerosis: diagnostic accuracy and phenotypic differentiation. Journal of Medicine and Palliative Care, Volume: 6 Issue: 6. https://doi.org/10.47582/jompac.1807614

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References (21)

  1. Sartori A, Abdoli M, Freedman MS. Can we predict benign multiple sclerosis? Results of a 20-year long-term follow-up study. J Neurol. 2017; 264(5):1068-1075. doi:10.1007/s00415-017-8487-y
  2. Rae-Grant A, Day GS, Marrie RA, et al. Practice guideline recommendations summary: disease-modifying therapies for adults with multiple sclerosis. Neurology. 2018;90(17):777-788. doi:10.1212/WNL.0000000000005347
  3. Giovannoni G. Disease-modifying treatments for early and advanced multiple sclerosis. Curr Opin Neurol. 2018;31(3):233-243. doi:10.1097/WCO.0000000000000561
  4. Rovira Á, Wattjes MP, Tintoré M, et al. Evidence-based guidelines: MAGNIMS consensus guidelines on the use of MRI in multiple sclerosis—clinical implementation in the diagnostic process. Nat Rev Neurol. 2015;11(8):471-482. doi:10.1038/nrneurol.2015.106
  5. Teunissen CE, Khalil M. Neurofilaments as biomarkers in multiple sclerosis. Mult Scler J. 2012;18(5):552-556. doi:10.1177/1352458512443092
  6. Kuhle J, Barro C, Andreasson U, et al. Serum neurofilament light chain in early relapsing-remitting MS is increased and correlates with CSF levels and MRI measures of disease severity. Mult Scler. 2016;22(12): 1550-1559. doi:10.1177/1352458515623365
  7. Varhaug KN, Torkildsen Ø, Myhr KM, Vedeler CA. Neurofilament light chain predicts disease activity in relapsing-remitting MS. Neurol Neuroimmunol Neuroinflamm. 2018;5(1):e422. doi:10.1212/NXI. 0000000000000422
  8. Thebault S, Tessier D, Lee H, Bowman M. High serum neurofilament light chain normalises after haematopoietic stem cell transplant for MS. Neurol Neuroimmunol Neuroinflamm. 2019;6(3):e598. doi:10.1212/NXI. 0000000000000598
  9. Varhaug KN, Torkildsen Ø, Myhr KM, Vedeler CA. Neurofilament light chain as a biomarker in multiple sclerosis. Front Neurol. 2019;10:338. doi:10.3389/fneur.2019.00338
  10. Yang J, Hamade M, Wu Q, et al. Current and future biomarkers in multiple sclerosis. Int J Mol Sci. 2022;23(11):5877. doi:10.3390/ijms 23115877
  11. van Tilburg SJ, Teunissen CE, Maas CCHM, et al. Dynamics and prognostic value of serum neurofilament light chain in Guillain-Barré syndrome. EBioMedicine. 2024;102:105072. doi:10.1016/j.ebiom.2024. 105072
  12. Freedman MS, Gnanapavan S, Booth RA, et al. Guidance for use of neurofilament light chain as a cerebrospinal fluid and blood biomarker in multiple sclerosis management. EBioMedicine. 2024;101:104970. doi: 10.1016/j.ebiom.2024.104970
  13. Leppert D, Kropshofer H, Häring DA, et al. Blood neurofilament light in progressive multiple sclerosis: post hoc analysis of 2 randomized controlled trials. Neurology. 2022;98(21):e2120-e2131. doi:10.1212/WNL.0000000000200258
  14. Yang Q, Wang G, Zhang F. Role of peripheral immune cells-mediated inflammation on the process of neurodegenerative diseases. Front Immunol. 2020;11:582825. doi:10.3389/fimmu.2020.582825
  15. Charabati M, Wheeler MA, Weiner HL, Quintana FJ. Multiple sclerosis: neuroimmune crosstalk and therapeutic targeting. Cell. 2023;186(7): 1309-1327. doi:10.1016/j.cell.2023.03.008
  16. Afzali AM, Korn T. The role of the adaptive immune system in the initiation and persistence of multiple sclerosis. Semin Immunol. 2025;78: 101947. doi:10.1016/j.smim.2025.101947
  17. Murta V, Ferrari CC. Influence of peripheral inflammation on the progression of multiple sclerosis: evidence from the clinic and experimental animal models. Mol Cell Neurosci. 2013;53:6-13. doi:10. 1016/j.mcn.2012.06.004
  18. Kouchaki E, Dashti F, Mirazimi SMA, et al. Neurofilament light chain as a biomarker for diagnosis of multiple sclerosis. EXCLI J. 2021;20:1308-1325. doi:10.17179/excli2021-3973
  19. Ali HS, Nasef AM, ElNabil LM, et al. The relation between serum neurofilament light chain levels and disease severity in multiple sclerosis: insights from an Egyptian study. Egypt J Neurol Psychiatry Neurosurg. 2025;61(1):77. doi:10.1186/s41983-025-01007-x
  20. Vecchio D, Puricelli C, Malucchi S, et al. Serum and cerebrospinal fluid neurofilament light chains measured by SIMOA™, Ella™, and Lumipulse™ in multiple sclerosis naïve patients. Mult Scler Relat Disord. 2024;82: 105412. doi:10.1016/j.msard.2023.105412
  21. Aburashed R, Eghzawi A, Long D, Pace R, Madha A, Cote J. Neurofilament light chain and multiple sclerosis: building a neurofoundational model of biomarkers and diagnosis. Neurol Int. 2025;17(4):56. doi:10.3390/neurolint17040056