A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family

CAPN1 encodes calpain-1, a large subunit of μ-calpain, a calcium-activated cysteine protease widely present in the central nervous system. Mutations in CAPN1 have recently been identified in a complicated form of Hereditary Spastic Paraplegia (HSP) with a combination of cerebellar ataxia and cortico...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Front Neurol
Auteurs principaux: Cotti Piccinelli, Stefano, Bassi, Maria T., Citterio, Andrea, Manganelli, Fiore, Tozza, Stefano, Santorelli, Filippo M., Gallo Cassarino, Serena, Caria, Filomena, Baldelli, Enrico, Galvagni, Anna, Santoro, Lucio, Padovani, Alessandro, Filosto, Massimiliano
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2019
Sujets:
Neurology
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6560055/
https://ncbi.nlm.nih.gov/pubmed/31231303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.00580
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires