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Review
. 2024 Jan 15;62(7):1252-1265.
doi: 10.1515/cclm-2023-1311. Print 2024 Jun 25.

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

Sherif Bayoumy  1 , Inge M W Verberk  1 , Lisa Vermunt  1 , Eline Willemse  1 , Ben den Dulk  1 , Ans T van der Ploeg  2 , Dasja Pajkrt  3 , Elisa Nitz  4 , Johanna M P van den Hout  2 , Julie van der Post  3 , Nicole I Wolf  5 , Shanice Beerepoot  5   6   7 , Ewout J N Groen  8 , Victoria Tüngler  4   9 , Charlotte E Teunissen  1
Affiliations
Free article
Review

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

Sherif Bayoumy et al. Clin Chem Lab Med. .
Free article

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.

Keywords: blood biomarker; neurofilament light protein; pediatric neurology; reference range; spinal muscular atrophy.

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