Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson's disease from Southern Italy

Abstract

We identified the RAB32 c.213 C > G variant in 7/300 unrelated familial PD patients (not found in 300 controls) from Southern Italy, screened by Sanger sequencing. We found a prevalence of 2.33%, higher than that observed in recent international studies (0.0-0.7%), supporting RAB32 gene as a notable cause of familial PD in the Mediterranean area. We first report prodromal PD signs in unaffected mutated family members, suggesting long-term follow-up in RAB32 carriers.