Parkinson disease (PD) is a neurodegenerative disease characterised by progressive disturbances in motor, autonomic and psychiatric functions. Much has been learnt since the disease entity was established in 1817. Although there are well established treatments that can alleviate the symptoms of PD, a pressing need exists to improve our understanding of the pathogenesis to enable development of disease modifying treatments. Ten responsible genes for PD have been identified and recent progress in molecular research on the protein functions of the genes provides new insights into the pathogenesis of hereditary as well as sporadic PD. Also, genome wide association studies, a powerful approach to identify weak effects of common genetic variants in common diseases, have identified a number of new possible PD associated genes, including PD genes previously detected. However, there is still much to learn about the interactions of the gene products, and important insights may come from chemical and genetic screens. In this review, an overview is provided of the molecular pathogenesis and genetics of PD, focusing particularly on the functions of the PD related gene products with marked research progress.
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Funding The authors are very grateful for the CREST Grant from the Japan Science and Technology Agency (NH), grants from the Ministry of Health, Labour and Welfare (NH) and the Ministry of Education, Culture, Sports, Science and Technology (NH), Grant-in-Aid for Young Scientists (A) (S Saiki), a promoted grant from Juntendo University (S Saiki) and grants from the Takeda Scientific Foundation (S Sato, S Saiki) and the Life Science Foundation (S Saiki).
Competing interests None.
Provenance and peer review Commissioned; externally peer reviewed.