Clinical characteristics and therapeutic evaluation of autosomal recessive juvenil ⁃ onset Parkinson's disease

Abstract

Objective To report one case of autosomal recessive juvenile⁃onset Parkinson's diseased (AR⁃JP), and summarize its clinical manifestations, imaging and genetic testing results, treatment and outcome. Methods and Results A female patient, 27 years old, clinically manifested as stiffness, inflexibility and involuntary shaking of limbs. Her second sister had similar symptoms. 18F⁃DOPA PET showed decreased dopamine metabolism in the posterior striatum of both sides. Genetic testing showed that the patient had a heterozygous deletion of the PRKN gene exon 12 c.1321T＞C (p.Cys441Arg) and LRRK2⁃41 (MUT) G2019S and SNCA⁃2 (MUT) A30P mutations, which were caused by disease variants. The final diagnosis was AR⁃JP, and she was treated with dopasrazide. The symptoms were significantly reduced but dyskinesia occurred. The dose of dopasrazide was reduced and the combination of trihexyphenidyl and procassone was used. The symptoms were relieved. No dyskinesias and "switching phenomenon" were seen. Conclusions AR⁃JP is caused by a compound heterozygous mutation in the PRKN gene. The treatment of levodopa is effective, and the combination of diphenhexol and procassol has a better effect, and can reduce dyskinesia and "switching". Early diagnosis and timely treatment of AR⁃JP are of great significance to the prognosis of patients.

Keywords

• parkinson disease
• genes
• recessive
• chromosome disorders
• parkinson disease associated proteins
• positron⁃emission tomography
• adolescent