早发性帕金森病患者的临床特征

Clinical features of patients with early-onset Parkinson's disease

目的:探讨早发性帕金森病的临床特征。方法:对76例早发性帕金森病患者的临床资料进行回顾性分析。结果:76例患者中15例有家族史,11例呈常染色体隐性遗传(autosomalrecessiveParkinson'sdisease,ARPD),4例呈常染色体显性遗传(autosomaldominartParkinson'sdisease,ADPD);症状轻,病程长,症状常左右不对称,腱反射活跃和症状波动较常见,头部CT或MRI检查一般正常,对多巴制剂反应良好,但其所诱发的副作用出现早。与散发性患者相比,ARPD患者发病年龄更早(26.9±9.43)岁,病程更长(8.72±5.09)年;而病情较轻,症状波动和腱反射活跃更多见,多巴制剂副作用更常见。结论:早发性帕金森病可能是一个独立的疾病实体。ARPD与散发性早发性PD临床特征不同,提示两者可能具有不同的发病机制。

AIM:To explore the clinical features of patients with early-onset Parkinson's disease(EOPD). METHODS:General status,clinical manifestation and laboratory findings of 76 pa tients with EOPD were reviewed. RESULTS:Among the 76 patients with EOPD,15 patients had family history,includi ng 11 cases of autosomal recessive Parkinson's disease(ARPD) and 4 of autosomal dominant Parkinson's disease(ADPD).Analysis of the clinical features showed the symptoms of PD were mild and unsymmetric.The disease progression was slowly.Hype rreflexia and diural fluctuation were often seen in patients, but brain CT and M RI were often normal.Response to levodopa was satisfactory,but dopa-induced sid e effects occurred early. Compared with sporadic PD,ARPD tended to have earlier age at onset[(26.9±9.43) years old], milder symptoms of PD,longer duration of p rogression[(8.72±5.09) years],more frequent presence of hyperreglexia and diura l fluctuation, and more frequent appearance of dopa-related side effects. CONCLUSION:EOPD may be an independent disease entity.ARPD is different from sp oradic EOPD,which suggests that there may be different pathogenesis between thes e two subtypes.