Genetic basis of Parkinson's disease in southern Spain
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AuthorBandrés Ciga, Sara
Universidad de Granada
DepartamentoUniversidad de Granada. Departamento de Fisiología
Enfermedad de ParkinsonPatogénesisCitogenética humanaTransformación genéticaDiagnósticoAndalucía
Bandrés Ciga, S. Genetic basis of Parkinson's disease in southern Spain. Granada: Universidad de Granada, 2016. [http://hdl.handle.net/10481/44397]
SponsorshipTesis Univ. Granada. Programa Oficial de Doctorado en: Biomedicina; FPU12-01885. Beca-Contrato del Programa de Formación de Profesorado Universitario (FPU) (2013-2017); Project WT089698/Z/09/Z: Medical Research Council (London, UK) and Welcome Trust Strategic Award.; Project ZO1 AG000949: Intramural Research Program of the National Institute on Aging, National Institutes of Health (NIH) (part of the Department of Health and Human Services, USA).
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.