Parkinsonism-dystonia syndrome due to a PARK7 gene mutation

We describe a young woman with a novel homozygous PARK7 mutation causing an early-onset and progressive parkinsonism-dystonia syndrome with poor dopaminergic response. Clinical heterogeneity among homozygous mutation carriers emphasises that molecular characterisation of novel variants and detailed phenotyping remain indispensable for enhancing early diagnosis and the understanding of the multifaceted role of DJ1 in the context of neurodegeneration.