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

Tejera-Parrado CristinaMir PabloPeriñán María TeresaVela-Desojo LydiaAbreu-Rodríguez IreneAlonso-Cánovas AraceliBernal-Bernal InmaculadaBonilla-Toribio MartaBuiza-Rueda DoloresCatalán-Alonso María JoséGarcía-Ramos RocíoGarcía-Ruiz Pedro JoséHuertas-Fernández IsmaelJesús SilviaMiguel A-Espinosa LabradorLópez-Manzanares LydiaMartínez-Castrillo Juan CarlosIgnacio J PosadaRojo-Sebastián AnaRuiz-Huete CristinaDel Val JavierPilar Gomez-Garre
Published in: PloS one (2020)
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.
Keyphrases
  • early onset
  • late onset
  • copy number
  • genome wide
  • end stage renal disease
  • ejection fraction
  • patient reported outcomes
  • human immunodeficiency virus