Parkinson’s disease (PD) is the second commonest neurodegenerative disorder worldwide, after Alzheimer’s disease. Prevalence of PD in industrialized countries is estimated at 0.3% of the whole population, whereas it reaches 1% in the population aged 60 or over. In the past twenty years, several different genes have been identified as responsible of familial PD. However, genetically determined PD only accounts for 5-10% of total PD patients; the vast majority of cases are referred to as “idiopathic” or “sporadic” PD, because no evident etiology is found. These sporadic forms of PD are thought to involve still unidentified environmental and genetic factors. From a clinical point of view, Parkinson’s disease is a slowly progressive neurodegenerative disease, characterized by a long pre-clinical course (up to 15 years). By the time diagnosis is made, up to 60% of dopaminergic neurons are lost, thereby limiting the potential benefits of current therapies (Figure 1).The aim of this project is to investigate the potential role of alternative splicing and gene expression as biomarkers of PD, through the recruitment of PD patients with specific diagnostic criteria. Specifically, in collaboration with the Neurology Outpatient Service at Cattinara University Hospital, in Trieste headed by Prof. Paolo Manganotti, we have selected three groups of patients that include Early PD (EPD), Advanced PD with dementia (PDD), Alzheimer’s disease controls (AD) and healthy volunteers as controls (CTR).
Emanuele Buratti Molecular pathology, ICGEB Trieste, Italy