常染色体隐性遗传性青少年型帕金森病的临床特征  

Clinical features of autosomal recessive juvenile Parkinson disease

作　　者：郭纪锋[1] 唐北沙[1] 张玉虎[1] 严新翔[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008

出　　处：《临床神经病学杂志》2005年第5期324-326,共3页Journal of Clinical Neurology

基　　金：国家自然科学基金(30070273);国家863计划(2004AA227040);国家科技攻关计划项目(2002BA711A07-03);高等学校博士学科点专项科研基金(20020533024)

摘　　要：目的探讨常染色体隐性遗传性青少年型帕金森病(AR-JP)的临床特征。方法对来自15个家系28例AR-JP患者的临床资料进行回顾性分析。结果本组AR-JP患者发病年龄平均26.1岁;均为隐袭起病,从一个或一侧肢体起病23例(82.1%),发展到对侧肢体的时间为(4.7±3.6)年;主要表现为运动迟缓、肌强直(100%)、静止性震颤(85.7%)、步态异常(60.7%)、腱反射增高(53.6%)、局部肌张力障碍(32.1%)和症状有波动(89.2%);W ebster改良评分平均为(11.2±6.1)分;多巴制剂维持治疗平均剂量为(0.40±0.28)g/d,用药前统一帕金森病评定量表(UPDRS)运动评分为(27.9±10.3)分,用药后为(6.7±5.4)分,差异有极显著性(P<0.001)。结论AR-JP具有发病年龄早、症状轻、进展缓慢、多巴制剂反应好等特征。早期其症状不典型,应注意与其他疾病相鉴别。Objective To explore the clinical features of autosomal recessive juvenile Parkinson disease （ AR-JP）. Methods The clinical materials of 28 patients from 15 families with AR-JP were analyzed retrospectively. Results The onset of all the patients was insidious and the mean age was 26. 1 years old. In 23 patients （82.1% ） , the symptoms began at one limb or one side and progressed bilaterally in a mean time of （4.7 ± 3.6） years. Bradykinesia （ 100% ） , rigidity （ 100% ） , resting tremor （ 85.7% ） , postural instability （ 60. 7% ） , hyperreflexia （53.6%） , dystonia （ 32. 1% ） and diurnal fluctuations with sleep benefit （ 89.2% ） were the cardinal symptoms. The mean improved Webster score was 11.2. ± 6. 1. The mean maintenance dose of DOPA-preparation was （0. 40 ± 0. 28） g,/d. The mean UPDRS motor score was 27.9±10. 3 before treatment and it decreased to 6. 7 ± 5.4 ＇after therapy（P 〈0. 001 ）. Conclusions AR-JP is characterized by early age of onset, mild symptoms, stow progression and good response to levodopa, It should be differentiated from other diseases for its atypical symptoms at early stage.

关 键 词：常染色体隐性 遗传 青少年 帕金森病 临床特征 

分 类 号：R742.5[医药卫生—神经病学与精神病学]