Genetic basis of Parkinson's disease in southern Spain

Abstract

In the last decades, we have witnessed a revolution in the field of genetics of Parkinson’s disease (PD), a movement disorder caused by the progressive loss of dopaminergic neurons in the substantia nigra pars compacta (SNpc). The discovery of deleterious mutations and genetic risk variants in familial and sporadic PD cases respectively, has increased our knowledge about the possible molecular pathways involved on its pathogenesis. This substantial progress has helped us to better understand such devastating disease, and although the route to PD diseasemodifying drugs is still long, it will hopefully be an achievable future goal. This study aims to elucidate the genetic architecture of familial and sporadic PD in Southern Spain, assessing in detail a population that has so far been poorly studied in this context.