Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients

I. Faravelli, M. Meneri, D. Saccomanno, D. Velardo, E. Abati, D. Gagliardi, V. Parente, L. Petrozzi, D. Ronchi, N. Stocchetti, E. Calderini, G. D’Angelo, G. Chidini, E. Prandi, G. Ricci, G. Siciliano, N. Bresolin, G.P. Comi, S. Corti, F. MagriA. Govoni

Research output: Contribution to journalArticlepeer-review


The antisense oligonucleotide Nusinersen has been recently licensed to treat spinal muscular atrophy (SMA). Since SMA type 3 is characterized by variable phenotype and milder progression, biomarkers of early treatment response are urgently needed. We investigated the cerebrospinal fluid (CSF) concentration of neurofilaments in SMA type 3 patients treated with Nusinersen as a potential biomarker of treatment efficacy. The concentration of phosphorylated neurofilaments heavy chain (pNfH) and light chain (NfL) in the CSF of SMA type 3 patients was evaluated before and after six months since the first Nusinersen administration, performed with commercially available enzyme-linked immunosorbent assay (ELISA) kits. Clinical evaluation of SMA patients was performed with standardized motor function scales. Baseline neurofilament levels in patients were comparable to controls, but significantly decreased after six months of treatment, while motor functions were only marginally ameliorated. No significant correlation was observed between the change in motor functions and that of neurofilaments over time. The reduction of neurofilament levels suggests a possible early biochemical effect of treatment on axonal degeneration, which may precede changes in motor performance. Our study mandates further investigations to assess neurofilaments as a marker of treatment response.

Original languageEnglish
Pages (from-to)3034-3039
Number of pages6
Issue number5
Publication statusPublished - 2020


  • neurofilaments
  • Nusinersen
  • pharmacodynamics biomarker
  • spinal muscular atrophy
  • neurofilament protein
  • nusinersen
  • aged
  • Article
  • biochemical analysis
  • cerebrospinal fluid
  • cerebrospinal fluid analysis
  • child
  • clinical article
  • clinical assessment
  • controlled study
  • disease duration
  • enzyme linked immunosorbent assay
  • exploratory research
  • female
  • follow up
  • Hammersmith Functional Motor Scale Expanded
  • human
  • Kugelberg Welander disease
  • limit of quantitation
  • male
  • motor function test
  • motor performance
  • nerve fiber degeneration
  • neurofilament
  • priority journal
  • psychosomatic disorder
  • scoring system
  • six minute walk test
  • treatment response


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