Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges-Reference-Cited by-同舟云学术

Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges

Published:2024-01-15 Issue:7 Volume:62 Page:1252-1265
ISSN:1434-6621
Container-title:Clinical Chemistry and Laboratory Medicine (CCLM)
language:en
Short-container-title:

Author:

Bayoumy Sherif¹^ORCID,Verberk Inge M.W.¹^ORCID,Vermunt Lisa¹^ORCID,Willemse Eline¹^ORCID,den Dulk Ben¹,van der Ploeg Ans T.²^ORCID,Pajkrt Dasja³^ORCID,Nitz Elisa⁴,van den Hout Johanna M.P.²^ORCID,van der Post Julie³,Wolf Nicole I.⁵^ORCID,Beerepoot Shanice⁵⁶⁷^ORCID,Groen Ewout J.N.⁸^ORCID,Tüngler Victoria⁴⁹^ORCID,Teunissen Charlotte E.¹^ORCID

Affiliation:

1. Neurochemistry Laboratory, Department of Laboratory Medicine , Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC , Amsterdam , The Netherlands

2. Center for Lysosomal and Metabolic Diseases, Department of Pediatrics , Erasmus Medical Center , Rotterdam , The Netherlands

3. Organovir Labs, Department of Pediatric Infectious Diseases , Amsterdam University Medical Centers Location Academic Medical Center, University of Amsterdam , Amsterdam , The Netherlands

4. Department of Neuropediatrics, Medizinische Fakultät , Technische Universität Dresden , Dresden , Germany

5. Amsterdam Leukodystrophy Center, Department of Child Neurology , Emma Children’s Hospital, Amsterdam University Medical Center, VU University Amsterdam, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms , Amsterdam , The Netherlands

6. Center for Translational Immunology , University Medical Center Utrecht , Utrecht , The Netherlands

7. Princess Máxima Center for Pediatric Oncology , Utrecht , The Netherlands

8. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery , University Medical Center Utrecht , Utrecht , The Netherlands

9. University Center for Rare Diseases, Medizinische Fakultät Carl Gustav Carus , Technische Universität Dresden , Dresden , Germany

Abstract

Abstract Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality, characterized by progressive neuromuscular degeneration resulting from mutations in the survival motor neuron (SMN1) gene. The availability of disease-modifying therapies for SMA therapies highlights the pressing need for easily accessible and cost-effective blood biomarkers to monitor treatment response and for better disease management. Additionally, the wide implementation of newborn genetic screening programs in Western countries enables presymptomatic diagnosis of SMA and immediate treatment administration. However, the absence of monitoring and prognostic blood biomarkers for neurodegeneration in SMA hinders effective disease management. Neurofilament light protein (NfL) is a promising biomarker of neuroaxonal damage in SMA and reflects disease progression in children with SMA undergoing treatment. Recently, the European Medicines Agency issued a letter of support endorsing the potential utilization of NfL as a biomarker of pediatric neurological diseases, including SMA. Within this review, we comprehensively assess the potential applications of NfL as a monitoring biomarker for disease severity and treatment response in pediatric-onset SMA. We provide reference ranges for normal levels of serum based NfL in neurologically healthy children aged 0–18 years. These reference ranges enable accurate interpretation of NfL levels in children and can accelerate the implementation of NfL into clinical practice.

Publisher

Walter de Gruyter GmbH

Link

https://www.degruyter.com/document/doi/10.1515/cclm-2023-1311/pdf

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