Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy

Abstract

Parkinson's disease (PD) is characterized by progressive loss of dopaminergic neurons in the substantia nigra pars compacta. This degeneration leads to bradykinesia, muscular rigidity, resting tremor, and postural instability. It affects 1%-2% of the population above the age of 60 years. Recently, 2 studies identified the Asp620Asn mutation in the vacuolar protein sorting 35 (VPS35) gene, and the Arg1205His in the eukaryotic translation initiation factor 4 gamma 1 gene (EIF4G1) were reported to be associated an autosomal dominant form of PD. In this study we screened these mutations in a cohort of 250 South Italy patients with familial PD and 250 control subjects from South Italy. VPS35 Asp620Asn mutation and EIF4G1 Arg1205His mutation were not found in our 250 PD patients. This result, with our previous reports on the absence of mutations in LRRK2 and in SNCA, warrant a continuing search for novel causative genes for PD among South Italy.

Keywords: Arg1205His mutation; Asp620Asn mutation; EIF4G1gene; Parkinson's disease; VPS35 gene.