ArticleNeurology. Genetics2025
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease.
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background and Objectives: Lafora disease (LD) is a severe, ultra-rare childhood-onset progressive myoclonus epilepsy caused by biallelic pathogenic variants in either Methods: We conducted cross-sectional and longitudinal measurements of NfL levels in serum (n = 32) and CSF (n = 25) samples from a cohort of 31 patients with LD (26 independent families; mean age 21 years; age range 10.2-40.3; f:m = 16:15; Results: When compared with control participants (mean sNfL 7.72, 95% CI 6.79-8.65; mean cNfL 306.8, 95% CI 251.5-362.2), CSF and serum NfL levels were increased in patients with LD (mean sNfL 13.95, 95% CI 11.20-16.69; mean cNfL 576.9, 95% CI 465.3-688.5). cNfL values exhibited less variability than sNfL, resulting in superior discriminatory performance between those with LD and controls in receiver operating characteristic (ROC) analyses (AUC sNfL = 0.80; cNfL = 0.88). NfL levels tended to increase longitudinally when samples had been collected ≥12 months after baseline. sNfL levels correlated with both disease stage ( Discussion: Our findings support the utility of NfL, particularly sNfL, as a promising biomarker of disease progression in LD. While further research is needed to fully elucidate the potential of NfL in this context, it holds immediate promise as an exploratory outcome measure in ongoing and future clinical trials.
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