Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion

Here we report the case of an ALS patient found to carry both a novel heterozygous change (c.194G>A) within the spastin gene and a homozygous deletion of the SMN2 gene. The patient was started on valproic acid (VPA, 600 mg/die per os) considering the capacity of this drug of increasing survival m...

Descripción completa

Detalles Bibliográficos
Autores principales: Tremolizzo, Lucio, Sala, Gessica, Conti, Elisa, Rodriguez-Menendez, Virginia, Fogli, Antonella, Michelucci, Angela, Simi, Paolo, Penco, Silvana, Lunetta, Christian, Corbo, Massimo, Ferrarese, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124810/
https://www.ncbi.nlm.nih.gov/pubmed/25143843
http://dx.doi.org/10.1155/2014/216094

Ejemplares similares

Ejemplares similares