A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation

BACKGROUND: Mutations in TGM6 gene, encoding for transglutaminase 6 (TG6), have been implicated in the pathogenesis of spinocerebellar ataxia type 35 (SCA35), a rare autosomal dominant disease marked by cerebellar degeneration and characterized by postural instability, incoordination of gait, featur...

Descripción completa

Detalles Bibliográficos
Autores principales: Manini, Arianna, Bocci, Tommaso, Migazzi, Alice, Monfrini, Edoardo, Ronchi, Dario, Franco, Giulia, De Rosa, Anna, Sartucci, Ferdinando, Priori, Alberto, Corti, Stefania, Comi, Giacomo Pietro, Bresolin, Nereo, Basso, Manuela, Di Fonzo, Alessio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7648302/
https://www.ncbi.nlm.nih.gov/pubmed/33160304
http://dx.doi.org/10.1186/s12883-020-01964-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7648302/
https://www.ncbi.nlm.nih.gov/pubmed/33160304
http://dx.doi.org/10.1186/s12883-020-01964-1

Ejemplares similares