Nusinersen in type 0 spinal muscular atrophy: should we treat?

Eloisa Tiberi, Simonetta Costa, Marika Pane, Francesca Priolo, Roberto de Sanctis, Domenico Romeo, Francesco D. Tiziano, Giorgio Conti, Giovanni Vento, Eugenio Mercuri

Research output: Contribution to journalArticlepeer-review

Abstract

A male infant affected by type 0 SMA with one copy of SMN2 received early treatment with Nusinersen at the age of 13 days. He showed mild motor improvement 2 months after treatment started but despite also showing some minimal respiratory improvement, required tracheostomy at the age of 4 months and had increasing cardiac and autonomic dysfunction leading to exitus at 5 months. Our findings, expanding the results available on Nusinersen, confirm its relative efficacy in the most severely affected infants and provide clinical evidence to be used at the time requests for treating severe infants are discussed.

Original languageEnglish
Pages (from-to)2481-2483
Number of pages3
JournalAnnals of Clinical and Translational Neurology
Volume7
Issue number12
DOIs
Publication statusPublished - Dec 2020

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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