Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant

We describe a case of severe adult-onset progressive tremulous cerebellar ataxia with pyramidal signs associated with a rare homozygous truncating pathogenic variant in the SYNE1 gene (p.Arg5371*). This contrasts the initial views on SYNE1-related ataxia as a relatively benign, slowly progressive co...

Descripción completa

Detalles Bibliográficos
Autores principales: Spagnolo, Francesca, Monfrini, Edoardo, Pinto, Vincenza, Di Maggio, Giovanni, De Marco, Paolo, Comi, Giacomo P., Rini, Augusto, Di Fonzo, Alessio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Correspondence (including Letter to the Editor)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300247/
https://www.ncbi.nlm.nih.gov/pubmed/37388713
http://dx.doi.org/10.1016/j.prdoa.2023.100205

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10300247/
https://www.ncbi.nlm.nih.gov/pubmed/37388713
http://dx.doi.org/10.1016/j.prdoa.2023.100205

Ejemplares similares