青少年型帕金森综合征的临床及遗传特点分析  

Study on the Clinical and Genetic Characteristics of Juvenile Parkinsonism

作　　者：李璐 俞立强[2] 方琪[2] 蔡秀英[2] 孙淼[3] 卢曼[2] LI Lu;YU Li-qiang;FANG Qi;CAI Xiu-ying;SUN Miao;LU Man(Electrophysiology Room,Weihai Municipal Hospital,Weihai,Shandong,264200,China;Department ofNeurology,First Affiliated Hospital of Soochow University,Suzhou,Jiangsu,215006,China;Fetal ResearchInstitute,First Affiliated Hospital of Soochow University,Suzhou,Jiangsu,215006,China)

机构地区：[1]威海市立医院电生理室,山东威海264200 [2]苏州大学附属第一医院神经内科,江苏苏州215006 [3]苏州大学附属第一医院胎儿医学研究所,江苏苏州215006

出　　处：《中国血液流变学杂志》2022年第2期226-229,共4页Chinese Journal of Hemorheology

摘　　要：目的分析1家系青少年型帕金森综合征(JP)的临床及遗传学特点。方法回顾性分析JP患者的临床资料及遗传特点。结果该例患者为青少年男性,14岁起病,主要表现为进行性加重的行走不稳及运动迟缓,活动后易疲劳,在给予美多芭治疗后症状有明显缓解。随着病情进展,伴随有焦虑症状及睡眠障碍。Parkin基因测序检出PARK2基因4号外显子区域发现缺失突变。父母近亲结婚,并验证其父母为该位点的杂合性缺失,为常染色体隐性遗传。根据临床症状及基因检测确诊为JP。结论JP是青少年起病,首发症状以运动迟缓多见,症状相对不典型,Parkin基因突变的患者发病年龄较早,对左旋多巴反应较好,异动症出现比较早,早期使用DBS治疗可能会减少运动并发症及药物不良反应。Objective To investigate the clinical and genetic characteristics of juvenile parkinsonism(JP).Methods The clinical data and genetic characteristics of JP in 1 family were retrospectively analyzed.Results The patient was an adolescent male with onset at the age of 14.The main manifestations were progressive and aggravated walking instability and bradykinesia,and fatigue after activity.The symptoms were significantly relieved after treatment with Madopar.As the disease progresses,it is accompanied with symptoms of anxiety and sleep disturbances.Deletion mutation was found in exon 4 region of PARK2 gene by gene sequencing.The disease was an autosomal recessive inheritance.The parents were inbred,and the parents were confirmed to be heterozygous deletion of the locus.According to clinical symptoms and genetic testing,the patient was diagnosed as JP.Conclusion JP was an adolescent,and the initial symptoms were mostly bradykinesia,with relatively atypical symptoms.The patients with Parkin gene mutation had an earlier onset age,better response to Levodopa,and dyskinesia appeared earlier.It may reduce motor complications and adverse drug reactions with DBS treatment earlier.

关 键 词：青少年型帕金森综合征 PARK2基因 临床特点 遗传特点 

分 类 号：R742.5[医药卫生—神经病学与精神病学]