RT Journal Article
T1 A genetic analysis of a Spanish population with early onset Parkinson's disease.
A1 Tejera-Parrado, Cristina
A1 Mir, Pablo
A1 Periñan, Maria Teresa
A1 Vela-Desojo, Lydia
A1 Abreu-Rodriguez, Irene
A1 Alonso-Canovas, Araceli
A1 Bernal-Bernal, Inmaculada
A1 Bonilla-Toribio, Marta
A1 Buiza-Rueda, Dolores
A1 Catalan-Alonso, Maria Jose
A1 Garcia-Ramos, Rocio
A1 Garcia-Ruiz, Pedro Jose
A1 Huertas-Fernandez, Ismael
A1 Silvia, Jesus
A1 Espinosa-Labrador, Miguel A
A1 Lopez-Manzanares, Lydia
A1 Martinez-Castrillo, Juan Carlos
A1 Posada, Ignacio J
A1 Rojo-Sebastian, Ana
A1 Ruiz-Huete, Cristina
A1 Del-Val, Javier
A1 Gomez-Garre, Pilar
K1 Adult
K1 Cohort Studies
K1 Genetic Variation
K1 Male
K1 Parkinson Disease
AB 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. 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. 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. 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.
PB Public Library of Science
YR 2020
FD 2020-09-01
LK http://hdl.handle.net/10668/16185
UL http://hdl.handle.net/10668/16185
LA en
NO Cristina TP, Pablo M, Teresa PM, Lydia VD, Irene AR, Araceli AC, et al. A genetic analysis of a Spanish population with early onset Parkinson's disease. PLoS One. 2020 Sep 1;15(9):e0238098.
DS RISalud
RD Apr 8, 2025