A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia

BACKGROUND AND OBJECTIVES: To date, approximately 20 heterozygous mainly loss-of-function variants in KCND3 have been associated with spinocerebellar ataxia (SCA) type 19 and 22, a clinically heterogeneous group of neurodegenerative disorders. We aimed at reporting the second patients with the V374A...

Descripción completa

Detalles Bibliográficos
Autores principales: Palombo, Flavia, La Morgia, Chiara, Fiorini, Claudio, Caporali, Leonardo, Valentino, Maria Lucia, Donadio, Vincenzo, Liguori, Rocco, Carelli, Valerio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9359624/
https://www.ncbi.nlm.nih.gov/pubmed/35949253
http://dx.doi.org/10.1212/NXG.0000000000200004

Ejemplares similares

Ejemplares similares