Neurofilament light chain as a biological marker for amyotrophic lateral sclerosis: a meta-analysis study

Abstract

Aim: The aim of the present metanalysis is to evaluate blood and CSF Neurofilament light chain (NfL) concentrations in ALS patients, compared to healthy controls, ALS mimic disorders (ALSmd) and other neurological diseases (OND), and to evaluate their diagnostic yield against ALSmd. Methods: Search engines were systematically investigated for relevant studies. A random effect model was applied to estimate the pooled standard mean difference in NfL levels between ALS and controls and a bivariate mixed-effects model was applied to estimate their diagnostic accuracy on blood and CSF. Results and conclusions: NfL CSF levels were higher in ALS compared with all other control groups. On blood, NfL levels were significantly higher in ALS patients compared with healthy controls and ALSmd. In a subgroup analysis, the use of SIMOA yielded to a better differentiation between ALS and controls on blood, compared with ELISA. Studies performed on CSF (AUC = 0.90) yielded to better diagnostic performances compared with those conducted on blood (AUC = 0.78). Further prospective investigations are needed to determine a diagnostic cutoff, exploitable in clinical practice.

Keywords:

• ALS
• biomarkers
• neurofilament light chain
• motor neuron disease

Acknowledgments

The authors wish to acknowledge the assistance of Dr. Gaia Albano in methods section. The authors also thank the corresponding authors of included studies that provided missing date of the analyzed cohorts.

Declaration of interest

No potential conflict of interest was reported by the authors. The authors alone are responsible for the content and writing of this article

Data Availability and material

The dataset analyzed during the current study is available from the corresponding author on reasonable request.

Additional information

Funding

This work was supported by Giovanni Marazzina Foundation.