DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients

- DJ1 is a recessive gene involved in early onset PD.
- We tested 163 Italian EOPD.
- We did not find any mutation in our population.
- DJ1 PD causing mutations are very rare in Italian population.

We analyzed the DJ1 gene in a large consecutive series (N = 163) of Italian unrelated Early Onset Parkinson Disease (EOPD: onset ≤40 years of age) patients and 100 healthy controls (mean age 64 ± 7 years). No homozygous or compound heterozygous mutations with an obvious pathogenic effect were found. Several variants were identified, some of which were novels. All variants had similar frequency in patients and in controls. Our data suggest that DJ1 mutations are very rare in Italian EOPD. Other genes and risk factors for PD are still to be identified.