@article{c9266b8ce0a54f1a8647d6615d8ca290,
title = "Nusinersen in type 0 spinal muscular atrophy: should we treat?",
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.",
author = "Eloisa Tiberi and Simonetta Costa and Marika Pane and Francesca Priolo and {de Sanctis}, Roberto and Domenico Romeo and Tiziano, {Francesco D.} and Giorgio Conti and Giovanni Vento and Eugenio Mercuri",
note = "Funding Information: MP, has been in advisory boards for Roche, Biogen, and Avexis. EM is OPI and part of advisory board for Roche, Biogen Scholar Rock, and Avexis. FDT has been in advisory boards for Roche, Biogen, and Avexis. Their institution has received funding from Biogen to support a disease registry (iSMAR). Publisher Copyright: {\textcopyright} 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",
year = "2020",
month = dec,
doi = "10.1002/acn3.51126",
language = "English",
volume = "7",
pages = "2481--2483",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "Wiley-Blackwell",
number = "12",
}