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

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...

Full description

Bibliographic Details
Main Authors: Stefano Cotti Piccinelli, Maria T. Bassi, Andrea Citterio, Fiore Manganelli, Stefano Tozza, Filippo M. Santorelli, Serena Gallo Cassarino, Filomena Caria, Enrico Baldelli, Anna Galvagni, Lucio Santoro, Alessandro Padovani, Massimiliano Filosto
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-06-01
Series:Frontiers in Neurology
Subjects:
HSP
hereditary spastic paraplegia
ataxia
CAPN1
calpain-1
SCA
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.00580/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2019.00580/full

Similar Items