A genetic analysis of a Spanish population with early onset Parkinson’s disease

• DOI: 10.1371/journal.pone.0238098
• Publication Date: 2020-09-01T19:19:42Z
• Authors: Tejera-Parrado Cr...; Mir Pablo; Periñán María Teresa; Vela-Desojo Lydia; Abreu-Rodríguez I...; Alonso-Cánovas Ar...; Bernal-Bernal Inm...; Bonilla-Toribio M...; Buiza-Rueda Dolores; Catalán-Alonso Ma...; García-Ramos Rocío; García-Ruiz Pedro...; Huertas-Fernández...; Jesús Silvia; Miguel A-Espinosa...; López-Manzanares ...; Martínez-Castrill...; Ignacio J. Posada; Rojo-Sebastián Ana; Ruiz-Huete Cristina; Del Val Javier; Pilar Gómez-Garre
• Keywords: LRRK2; PINK1

Both recessive and dominant genetic forms of Parkinson's disease have been described. The aim this study was to assess the contribution several genes pathophysiology early onset in a cohort from central Spain.We analyzed 117 unrelated patients with using pipeline, based on combination next-generation sequencing panel 17 previously related other Parkinsonisms CNV screening.Twenty-six (22.22%) carried likely pathogenic variants PARK2, LRRK2, PINK1, or GBA. gene most frequently mutated p.Asn52Metfs*29 common variation gene. Pathogenic were not observed SNCA, FBXO7, PARK7, HTRA2, DNAJC6, PLA2G6, UCHL1. Co-occurrence involving two ATP13A2 PARK2 genes, as well LRRK2 GIGYF2 genes.Our results contribute understanding architecture associated disease, showing both play an important role Spanish patients. Rare may PD risk. However, large proportion components remains unknown. This might diagnosis counseling for families disease.