Parkinson's Disease with a Homozygous PARK7 Mutation and Clinical Onset at the Age of 5 Years

Mutations in the PARK7 gene, which encodes DJ-1, are a rare cause of autosomal recessive Parkinson’s disease (PD). Only approximately 30 PARK7-linked PD cases have been reported. PARK7 mutations typically cause levodopa-responsive parkinsonism with early or even juvenile age at onset (AAO) (median AAO, 27 years) and slow progression. However, detailed phenotype descriptions are scarce. Here we provide a comprehensive clinical characterization of a PARK7-linked PD case with the youngest AAO ever reported.