常染色体显性遗传伴外显不全帕金森综合征

Clinical manifestation of autosomal semidominant juvenile parkinsonism in a Chinese pedigree

目的确定常染色体显性遗传伴外显不全帕金森综合征的临床特点。方法详细询问家系的病史,检查症状、体征及疗效等临床特点并与青年型常染色体隐性遗传帕金森综合征做对照。结果常染色体显性遗传伴外显不全帕金森综合征与常染色隐性遗传帕金森综合征的临床特点有明显差异。结论对青年型家族性帕金森综合征应早期鉴别诊断,指导该病的临床及基因治疗。

Objective To investigate the clinical manifestation of the Parkinson's disease (PD) in a Chinese pedigree with autosomal semidominant juvenile parkinsonism. Methods The history, symptoms, signs and clinical effect were studied in the patients with autosomal semidominant juvenile parkinsonism and compared with autosomal recessive juvenile parkinsonism. Results There was a significant difference between autosomal semidominant juvenile parkinsonism and autosomal recessive juvenile parkinsonism. Conclusion The early differential diagnosis of juvenile parkinsonism in the pedigree should be carried out to direct gene therapy of the disease.