RT info:eu-repo/semantics/article
T1 Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene
A1 Nieto Barco, Antonieta
A1 Pérez Flores, Javier
A1 Corral Juan, Marc
A1 Matilla Dueñas, Antoni
A1 Martínez Burgallo, Francisco
A1 Montón, Fernando
A2 Psicología ClínicaPsicobiología y Metodología
K1 ANO10 gene
K1 autosomal recessive spinocerebellar ataxia
K1 SCAR10 cognitive impairment
K1 cerebellum
AB Autosomal recessive spinocerebellar ataxia type 10 (SCAR10) caused by a homozygous c.132dupA mutationin the anoctamin 10 gene is infrequent and little is known about its cognitive profile. Three siblings (1 male)with this mutation were assessed with a neuropsychological battery measuring multiple cognitive domains.The deficits observed in one patient were in executive functions whereas the other two patients showeddeficits in practically all the functions. Cognitive impairment seems to be a characteristic of the SCAR10produced by this mutation, with a range from mild impairment, especially involving prefrontal systems, to asevere cognitive impairment suggesting widespread cerebral involvement.
YR 2019
FD 2019
LK http://riull.ull.es/xmlui/handle/915/35384
UL http://riull.ull.es/xmlui/handle/915/35384
LA en
NO https://doi.org/10.1080/13554794.2019.1655064
DS Repositorio institucional de la Universidad de La Laguna
RD 30-dic-2024