A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism

Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal signs. In the last years, a pleiotropic effect of some PSEN1 variant...

Full description

Autores:

Gatto, Emilia M
Rojas, Galeno J
Nemirovsky, Sergio I.
Da Prat, Gustavo
Persi, Gabriel
Cesarini, Martin
Etcheverry, Jose L
Gonzalez Rojas, Natalia
Parisi, Virginia
Cordoba, Marta

Tipo de recurso:

Article of journal

Fecha de publicación:

2020

Institución:

Corporación Universidad de la Costa

Repositorio:

REDICUC - Repositorio CUC

Idioma:

eng

OAI Identifier:

oai:repositorio.cuc.edu.co:11323/7826

Acceso en línea:

https://hdl.handle.net/11323/7826
https://doi.org/10.1016/j.parkreldis.2020.06.005
https://repositorio.cuc.edu.co/

Palabra clave:

Parkinsonism
Presenilin
Genetics
PSEN1

Rights

openAccess

License

Attribution-NonCommercial-NoDerivatives 4.0 International