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

## TL;DR

A new case of early-onset Parkinson’s disease with spasticity is linked to a novel genetic variant in the DJ-1 gene.

## Contribution

A novel compound heterozygous DJ-1 variant (exon 6 deletion + c.242dup) is reported in a patient with early-onset Parkinson’s disease.

## Key findings

- The patient had parkinsonism, cognitive dysfunction, and lower limb spasticity linked to a novel DJ-1 variant.
- Compound heterozygous variants in DJ-1 (exon 6 deletion + c.242dup) were identified through genetic testing.
- The findings suggest DJ-1 variants should be considered in early-onset Parkinson’s with spasticity and cognitive issues.

## Abstract

Rare autosomal recessive variants in DJ-1, 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 DJ-1 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 DJ-1 gene (exon 6 deletion + c.242dup), of which exon 6 deletion was a novel variant. We conclude that variants in DJ-1 should be considered possible causes of early-onset parkinsonism with spasticity and cognitive impairment, as in this case.