Genetic research and its contribution to the treatment in Parkinson's disease

Traditionally believed to be a non-genetic disease (sporadic or idiopathic), running of Parkinson Disease (PD) in families and early-onset PD patients have drawn attention to the role of genetics in PD. Variants associated with PD include rare, high penetrance pathogenic variants causing familial disease, and genetic risk factor variants driving PD risk in a significant minority in PD cases, and high frequency, low penetrance variants, which contribute a small increase of the risk of developing sporadic PD. Studying PD genetics is critical for a thorough understanding of the underlying mechanisms, given that PD is a clinically and pathologically heterogenous disease. Although the great majority of PD patients cannot be explained by a single mutation, the identification of risk loci, genes, and mutations has provided new insights into PD pathogenesis and paved the way for new studies. It is clear that we will need more data about the treatment outcomes of monogenic/complex PD. Knowledge of genetics has the potential to improve clinical trial design and to generate new and optimize existing therapeutic options for people with PD. The molecular PD research combined with detailed clinical data, is timely and will contribute to fill some of the gaps in PD genetics.