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- Title
Case report: Early-onset Parkinson's disease with lower limb spasticity in a new DJ-1/PARK7 patient.
- Authors
Masako Fujita; Haruo Nishijima; Atsuko Katagai; Chieko Suzuki; Nobutaka Hattori; Masahiko Tomiyama
- 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.
- Subjects
PARKINSON'S disease; SPASTICITY; GENETIC variation; GENETIC testing; COGNITION disorders; PARKINSONIAN disorders
- Publication
Frontiers in Neuroscience, 2024, p1
- ISSN
1662-4548
- Publication type
Article
- DOI
10.3389/fnins.2024.1400001