AUTHOR=Fujita Masako , Nishijima Haruo , Katagai Atsuko , Suzuki Chieko , Hattori Nobutaka , Tomiyama Masahiko TITLE=Case report: Early-onset Parkinson’s disease with lower limb spasticity in a new DJ-1/PARK7 patient JOURNAL=Frontiers in Neuroscience VOLUME=18 YEAR=2024 URL=https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2024.1400001 DOI=10.3389/fnins.2024.1400001 ISSN=1662-453X 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.