JPND GBA1 mutations in Parkinson disease: clinical and biochemical prodrome, risk profile and pathogenetic modelling for therapeutic intervention.

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GBA1 mutation increases PD risk by 20-30x.The UK group has established the largest published cohort of GBA1 mutation carriers with 100 followed longitudinally and has developed a protocol for their clinical and biochemical phenotyping to identify the prodromal features of PD in this genetically stratified high risk group.This application will build on the existing strong links between the applicants to increase and integrate this UK cohort with existing cohorts of GBA1 mutation carriers in Italy and Canada.Harmonised international longitudinal evaluation of GBA1 carriers in the established clinic based cohorts to determine prodromal clinical features , cognition, anxiety, depression), biochemical phenotype and identify those at high risk for conversion to PD. Genetically stratified group of individuals suitable for future clinical trials of agents targeted for those with GBA1 mutations with PD or at risk of PD.