Docosahexaenoic acid in ARSACS: observations in two patients

BACKGROUND: Spastic ataxia of Charlevoix-Saguenay is a neurodegenerative condition due to mutations in the SACS gene and without a cure. Attempts to treatments are scarce and limited to symptomatic drugs. CASE PRESENTATION: Two siblings harboring biallelic variants in SACS underwent oral supplementa...

Descripción completa

Detalles Bibliográficos
Autores principales: Ricca, Ivana, Tessa, Alessandra, Trovato, Rosanna, Bacci, Giacomo Maria, Santorelli, Filippo Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254735/
https://www.ncbi.nlm.nih.gov/pubmed/32466761
http://dx.doi.org/10.1186/s12883-020-01803-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254735/
https://www.ncbi.nlm.nih.gov/pubmed/32466761
http://dx.doi.org/10.1186/s12883-020-01803-3

Ejemplares similares