Case report: Early-onset Parkinson's disease with lower limb spasticity in a new DJ-1/PARK7 patient

Rare autosomal recessive variants in , a causative gene for early-onset Parkinson's disease, have been associated with a variety of clinical syndromes in a limited number of patients. Here, we report a case of a novel variant in a 39-year-old man with a 4-year history of parkinsonism, cognitive dysfunction, and lower limb spasticity. He was diagnosed with Parkinson's disease. Genetic testing of the patient revealed compound heterozygous variants in the gene (exon 6 deletion + c.242dup), of which exon 6 deletion was a novel variant. We conclude that variants in should be considered possible causes of early-onset parkinsonism with spasticity and cognitive impairment, as in this case.