Serum neurofilament light chain provides early insights into pathophysiology prior to clinical phenotypes in spinal muscular atrophy, potentially expediting treatment initiation.
Does sNfL assessment provide early insights into pathophysiology prior to clinical phenotype in neonates with Spinal Muscular Atrophy and 2 SMN2 copies?
sNfL assessment in neonates with SMA and 2 SMN2 copies may provide early pathophysiological insights and expedite treatment initiation.
There is a malignant disease course with active denervation in children with 2 SMN2 copies within the neonatal period. sNfL gives early insights into underlying pathophysiology prior to a clinical phenotype and may expedite access to the initiation of treatment. ANN NEUROL 2026.
D'Silva et al. (2026) studied this question. Serum neurofilament light chain provides early insights into pathophysiology prior to clinical phenotypes in spinal muscular atrophy, potentially expediting treatment initiation.