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...
- 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
| Summary: | 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 variants has been reported in Parkinson's disease (PD). |
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