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Case report: Early-onset Parkinson's disease with lower limb spasticity in a new DJ-1/PARK7 patient.
Fujita, Masako; Nishijima, Haruo; Katagai, Atsuko; Suzuki, Chieko; Hattori, Nobutaka; Tomiyama, Masahiko.
Afiliação
  • Fujita M; Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Nishijima H; Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Katagai A; Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Suzuki C; Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Hattori N; Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
  • Tomiyama M; Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Front Neurosci ; 18: 1400001, 2024.
Article em En | MEDLINE | ID: mdl-38817911
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.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article