Twinkle-associated familial parkinsonism with Lewy pathology

Mitochondrial dysfunction is a recognized cause of autosomal recessive Parkinson disease (PD) and may contribute to idiopathic disease.1 Twinkle protein is a DNA helicase coded by the C10orf2 gene, which, along with polymerase gamma and other proteins, is responsible for regulating mitochondrial replication. Heterozygous C10orf2 mutations are a recognized cause of chronic progressive ophthalmoplegia (CPEO) and other neurologic manifestations, but their relationship with parkinsonism is unclear. Here, we report a case (along with postmortem examination findings) of familial parkinsonism associated with a heterozygous mutation in C10orf2 , alongside reviewing previously published cases.