Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1.

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Spinal muscular atrophy (SMA) is a neuromuscular disorder mainly characterized by proximal muscle weakness. There have been enormous advances in therapeutic development with the possibility to influence the clinical course of the disease. Nusinersen is the first approved drug to treat SMA. It is administered intrathecally and acts as splicing modifier of the SMN2 gene.

Related collections

Author and article information

Journal

Journal ID (iso-abbrev): Eur. J. Paediatr. Neurol.

Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Publisher: Elsevier BV

ISSN (Electronic): 1532-2130

ISSN (Print): 1090-3798

Publication date (Electronic): Jan 2018

Volume: 22

Issue: 1

Affiliations

[1 ] Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

[2 ] Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address: janbernd.kirschner@uniklinik-freiburg.de.

Article

Publisher Item ID: S1090-3798(17)31779-8

DOI: 10.1016/j.ejpn.2017.11.001

PubMed ID: 29208343

SO-VID: f8b7a112-f2f3-4c08-88f0-232c346d58cc

History

Keywords: Nusinersen,Lumbar puncture,Spinal muscular atrophy

Data availability:

Keywords: Nusinersen, Lumbar puncture, Spinal muscular atrophy

Comments

Comment on this article

scite_

Cited by 16

See all cited by