LRRK2 mutations are not frequent in Swiss patients with Parkinson's disease

Abstract

A wealth of recent data has shed light on the genetics of Parkinson's disease. Mutations of specific genes have been discovered in a number of autosomal dominant and recessive forms of the disease, and polymorphisms in the same or other genes found to be associated with its occurrence in sporadic forms. Mutations in the gene encoding leucine-rich repeat kinase 2 (LRRK2) cause an autosomal dominant form of Parkinson's disease (PARK8) and have been found in patients with Parkinson's disease with a highly variable frequency in different populations in the world. In this study we have examined the most common mutations so far described in this large gene: p.R1441C (together with p.R1441G and p.R1441H), p.Y1699C and p.G2019S. Seventy-three patients from Switzerland with Parkinson's disease diagnosed according to Brain Bank criteria with the exception of positive family history were included in this study. The three exons, in which the above mutations had been found, were sequenced after amplification. There were no sequence differences compared with the published wild-type sequences in all patients. These data point at the low incidence of LRRK2 mutation in the Swiss (regions of Berne and Zurich) populations, similar to findings in other central European populations, but at great variance to Mediterranean populations.