RAB32 mutation in Parkinson's disease

To assess the role of this variant in patients with Parkinson's disease in Italy, we analysed the RAB32 gene in 1052 unrelated individuals with Parkinson's disease (whole-exome sequencing data n=802, whole-genome sequencing data n=250; males 61·3%, females 38·7%; mean age at onset 54·9 years; Italian origin 92·2%) and 5553 unrelated individuals without Parkinson's disease (whole-exome sequencing data n=5046, whole-genome sequencing data n=507; males 50·2%, females 49·8%; mean age at sampling 56·2 years, Italian origin 84·9%). In summary, our data corroborate the pathogenic role of the intermediate penetrant RAB32 Ser71Arg variant in the population of Italian patients with Parkinson's disease. The research centre CMP3 VdA and the Project 5000genomi@ VdA are co-funded by Fondo Europeo di Sviluppo Regionale (FESR) Programma Investimenti per la crescita e l’occupazione 2014/20 (European Social Fund [ESF] and European Regional Development Fund), the Autonomous Region of the Aosta Valley, and the Italian Ministry of Labour and Social Policy (CUPB68H19005520007).