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| 常染色体显性遗传伴外显不全帕金森综合征 | |
| 引用本文： | 徐长水,徐军,马建军,鲍玉洲,赵国强.常染色体显性遗传伴外显不全帕金森综合征[J].实用诊断与治疗杂志,2005,19(6):391-393. |
| 作者姓名： | 徐长水 徐军 马建军 鲍玉洲 赵国强 |
| 作者单位： | 1. 河南省人民医院神经内科,河南省老年医学研究中心,郑州市,450003 2. 河南省人民医院,河南省眼科研究所分子生物室 3. 郑州大学医学院微生物免疫教研室 |
| 摘 要： | 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. |
| 关 键 词： | 帕金森病 临床表现 常染色体显性遗传伴外显不全 常染色体隐性遗传 |
| 文章编号： | 1672-3457(2005)06-0391-03 |
| 修稿时间： | 2005年1月13日 |
Clinical manifestation of autosomal semidominant juvenile parkinsonism in a Chinese pedigree |
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| XU Changshui,XU Jun,MA Jianjun,et al..Clinical manifestation of autosomal semidominant juvenile parkinsonism in a Chinese pedigree[J].Journal of Practical Diagnosis and Therapy,2005,19(6):391-393. | |
| Authors: | XU Changshui XU Jun MA Jianjun |
| Institution: | XU Changshui,XU Jun,MA Jianjun,et al. Department of Neurology,Henan Provincial People's Hospital,Zhengzhou 450003,China |
| Abstract: | 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. |
| Keywords: | Parkinson's disease clinical manifestation autosomal semidominant juvenile parkinsonism autosomal recessive juvenile parkinsonism |
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