Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, typically caused by survival motor neuron 1 (SMN1) gene deletion in chromosome 5q resulting in loss of SMN protein. SMA type 1 progresses rapidly leading to increased mortality usually before the age of 2 years. Nusinersen, the fi...

Descripción completa

Detalles Bibliográficos
Autores principales: Papaliagkas, Vasileios, Foroglou, Nikolaos, Toulios, Petros, Moschou, Maria, Gavriilaki, Maria, Notas, Konstantinos, Chatzikyriakou, Evangelia, Zafeiridou, Georgia, Arnaoutoglou, Marianthi, Kimiskidis, Vasilios K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Single Case − General Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647073/
https://www.ncbi.nlm.nih.gov/pubmed/34950009
http://dx.doi.org/10.1159/000519831

Ejemplares similares

Ejemplares similares