1636 Prevalence of mutations in parkin, PINK1, DJ-1 and LRRK2 in early onset Parkinson's Disease: a UK based study and systematic review

In approximately 3.6% of patients with Parkinson9s disease symptoms start before the age of 45 (early onset Parkinson9s disease—EOPD). EOPD patients have a high familial recurrence risk and there are three main autosomal recessive EOPD genes. Our aim was to establish the prevalence of mutations in these genes in a UK cohort and across previous studies. Cases were recruited locally, regionally and nationally. We screened 136 UK cases with EOPD for pathogenic mutations in Parkin, PINK1, DJ-1 and exon 41 of LRRK2. We have carried out a systematic review of previous studies looking at the frequency of pathogenic mutations in different patient groups. We identified five pathogenic mutations in Parkin, one in PINK1 and one in LRRK2. The rate of mutations overall was 5.1%. Mutations were found more commonly in patients with age at onset