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Longitudinal Analysis of Superoxide Dismutase 1 Seeding Activity in Amyotrophic Lateral Sclerosis Cerebrospinal Fluid - PubMed

4 hours ago
  • #Biomarkers
  • #Amyotrophic Lateral Sclerosis
  • #SOD1
  • SOD1 seeding activity was detected in cerebrospinal fluid (CSF) of ALS patients, including those with and without SOD1 mutations, indicating misfolded SOD1 aggregates.
  • In ALS progression, SOD1 seeding activity correlated with clinical decline measured by ALSFRS-R slope and increased CSF neurofilament light levels.
  • SOD1 seeding activity was found early in the disease course in sporadic ALS patients, suggesting its potential as an early biomarker for clinical trial inclusion.
  • The study highlights the potential of SOD1 seeding activity as a diagnostic, prognostic, and pharmacodynamic biomarker for SOD1-targeting therapies like tofersen, which could benefit a broader ALS population.