【摘要】 目的报道1例常染色体隐性遗传性青少年型帕金森病(AR-JP)患者,总结其临床表现、影像学和基因检测结果、治疗与转归。方法与结果女性患者,27岁,临床表现为肢体僵硬、不灵活以及四肢不自主抖动,其二妹有类似症状。18F-DOPA PET显示双侧纹状体后部多巴胺代谢降低。基因检测显示,患者存在PRKN基因外显子12 c.1321T> C(p.Cys441Arg)错义突变以及LRRK2-41(MUT)G2019S和SNCA-2(MUT)A30P杂合缺失,为致病性变异。最终诊断为AR-JP,予多巴丝肼治疗,症状明显减轻但出现异动症,多巴丝肼减量并联合应用苯海索和普洛卡索,症状缓解,未见异动症和"开关"现象。结论AR-JP系PRKN基因复合杂合突变所致,左旋多巴制剂治疗有效,与苯海索和普洛卡索联用效果更佳,可减少异动症和"开关"现象。AR-JP早期诊断、及时治疗,对患者预后意义重大。更多还原

【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.1321 T> C（p.Cys441 Arg） and LRRK2-41（MUT） G2019 S and SNCA-2（MUT） A30 P 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.更多还原