The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy - PubMed
5 hours ago
- #Newborn Screening
- #Spinal Muscular Atrophy
- #Neurofilament Light Chain
- Newborn screening (NBS) for spinal muscular atrophy (SMA) enables early diagnosis and treatment.
- Neurofilament light chain (NfL) levels were evaluated to understand disease activity and outcomes in SMA newborns and children.
- The study involved 45 individuals with SMA, ranging from 4 days to 42 years old.
- Pretreatment serum NfL (sNfL) levels were significantly higher in neonates with 2 SMN2 copies compared to those with ≥3 SMN2 copies.
- Combining sNfL and compound muscle action potential (CMAP) with pretreatment CHOP-INTEND improved prediction of motor outcomes in neonates at 2 years.
- sNfL levels increased in infants with ≥3 SMN2 copies who did not start immediate treatment, despite stable motor function.
- The findings suggest active denervation in children with 2 SMN2 copies during the neonatal period.
- sNfL provides early insights into SMA pathophysiology before clinical symptoms appear, potentially expediting treatment initiation.