少年型帕金森病的临床特点(附1例报告)

Clinical features of juvenile Parkinson disease(report of 1 case)

目的探讨少年型帕金森病(JP)的临床特点。方法回顾性分析1例JP患者的临床资料。结果本例患者为女性,20岁。以四肢无力、行走缓慢伴双手颤抖起病,进行性加重。神经心理学检查示中度抑郁、轻度焦虑;单光子发射断层扫描(SPECT)示两侧纹状体多巴胺转运体(DAT)水平显著降低;parkin基因测序检出第3号外显子Ser65Asn杂合突变,第4号外显子Ser167Asn杂合多态。予小剂量美多巴治后症状即明显缓解。结论 JP为青年起病,临床特点为行动缓慢、震颤伴抑郁,双侧纹状体DAT水平下降以及par-kin基因突变;多巴制剂效果好。

Objective To investigate the clinical features of juvenile Parkinson disease（JP）.Method The clinical data of one JP patient were analyzed retrospectively.Results This case was female,20 year old.The first symptoms were limbs weaknes,walking slowly,hands tremor;and which were progressively increased.The neuropsychological examination showed that she had moderate depression and mild anxiety.SPECT showed that the level of dopamine transporter（DAT） in bilateral striatal was significantly decreased.The parkin gene sequence showed that a heterozygous mutation was detected at Ser165Asn of exon 3,and a heterozygous polymorphism at Ser167Asn exon 4.After treatment with lower dose Madopar,all the symptoms of this case were considerable relief.Conclusions JP is begining in juvenile.The clinical features are slow action,tremor and depression,the lower DAT level in bilateral striatal and parkin gene mutation.Treatment with Dopamine agents will have good efficacy.