Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/229112
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | A genetic analysis of a Spanish population with early onset Parkinson’s disease |
Autor: | Tejera-Parrado, Cristina CSIC ORCID; Periñán, María Teresa CSIC ORCID; Vela-Desojo, Lydia; Abreu-Rodríguez, Irene; Alonso Cánovas, Araceli; Bernal-Bernal, Inmaculada CSIC; Bonilla-Toribio, Marta CSIC; Buiza-Rueda, Dolores CSIC; Catalán, M. J.; García-Ramos, Rocío; García-Ruiz, Pedro José; Huertas-Fernández, Ismael; Silva-Rodríguez, Jesús CSIC ORCID; Labrador, Miguel Ángel CSIC ORCID; López-Manzanares, Lydia; Martínez-Castrillo, J. C.; Posada, Ignacio J.; Rojo-Sebastián, Ana; Ruiz-Huete, Cristina; Val, Javier del; Gómez-Garre, Pilar CSIC ORCID | Fecha de publicación: | 1-sep-2020 | Editor: | Public Library of Science | Citación: | PLoS ONE 15(9): e0238098 (2020) | Resumen: | [Introduction] Both recessive and dominant genetic forms of Parkinson’s disease have been described. The aim of this study was to assess the contribution of several genes to the pathophysiology of early onset Parkinson’s disease in a cohort from central Spain. [Methods/patients] We analyzed a cohort of 117 unrelated patients with early onset Parkinson’s disease using a pipeline, based on a combination of a next-generation sequencing panel of 17 genes previously related with Parkinson’s disease and other Parkinsonisms and CNV screening. [Results] Twenty-six patients (22.22%) carried likely pathogenic variants in PARK2, LRRK2, PINK1, or GBA. The gene most frequently mutated was PARK2, and p.Asn52Metfs*29 was the most common variation in this gene. Pathogenic variants were not observed in genes SNCA, FBXO7, PARK7, HTRA2, DNAJC6, PLA2G6, and UCHL1. Co-occurrence of pathogenic variants involving two genes was observed in ATP13A2 and PARK2 genes, as well as LRRK2 and GIGYF2 genes. [Conclusions] Our results contribute to the understanding of the genetic architecture associated with early onset Parkinson’s disease, showing both PARK2 and LRRK2 play an important role in Spanish Parkinson’s disease patients. Rare variants in ATP13A2 and GIGYF2 may contribute to PD risk. However, a large proportion of genetic components remains unknown. This study might contribute to genetic diagnosis and counseling for families with early onset Parkinson’s disease. |
Versión del editor: | http://doi.org/10.1371/journal.pone.0238098 | URI: | http://hdl.handle.net/10261/229112 | DOI: | 10.1371/journal.pone.0238098 | Identificadores: | doi: 10.1371/journal.pone.0238098 e-issn: 1932-6203 |
Aparece en las colecciones: | (IBIS) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
Parkinsons_disease.pdf | 1,35 MB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
PubMed Central
Citations
11
checked on 08-mar-2024
SCOPUSTM
Citations
13
checked on 12-mar-2024
WEB OF SCIENCETM
Citations
13
checked on 29-feb-2024
Page view(s)
215
checked on 18-mar-2024
Download(s)
89
checked on 18-mar-2024
Google ScholarTM
Check
Altmetric
Altmetric
Artículos relacionados:
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.