| 脊髓小脑性共济失调17型一家系分析及文献复习 |
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| 引用本文： | 刘美琪,丁正同,蒋雨平,王坚,邬剑军,陈嬿,刘丰韬. 脊髓小脑性共济失调17型一家系分析及文献复习[J]. 中国临床神经科学, 2016, 0(4): 424-429 |
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| 作者姓名： | 刘美琪 丁正同 蒋雨平 王坚 邬剑军 陈嬿 刘丰韬 |
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| 作者单位： | 复旦大学附属华山医院神经内科 200040 |
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| 摘 要： | ![]()
目的探讨脊髓小脑性共济失调17型(SCA17)的临床特征。方法收集2例经基因检测明确为SCA17患者的临床及其家系调查资料,结合文献复习进行分析。结果 2例患者均诊断为SCA17。临床表现为小脑症状、认知功能损害、帕金森样症状、肌张力障碍、舞蹈症和癫。头颅MRI检查示大脑和小脑显著萎缩。结论 SCA17临床特征具有高度异质性,基因检测有助诊断,临床医生需对SCA17有足够的认识。
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| 关 键 词： | 脊髓小脑性共济失调 常染色体显性遗传 家系 基因 |
Clinical Analysis and A Review of Literature on A Family of Spinocerebellar Ataxia Type 17 |
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| LIU Mei-qi;DING Zheng-tong;JIANG Yu-ping;WANG Jian;WU Jian-jun;CHEN Yan;LIU Feng-tao. Clinical Analysis and A Review of Literature on A Family of Spinocerebellar Ataxia Type 17[J]. Chinese Journal of Clinical Neurosciences, 2016, 0(4): 424-429 |
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| Authors: | LIU Mei-qi DING Zheng-tong JIANG Yu-ping WANG Jian WU Jian-jun CHEN Yan LIU Feng-tao |
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| Affiliation: | LIU Mei-qi;DING Zheng-tong;JIANG Yu-ping;WANG Jian;WU Jian-jun;CHEN Yan;LIU Feng-tao;Department of Neurology, Huashan Hospital, Fudan University; |
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| Abstract: | ![]()
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| Keywords: | spinocerebellar ataxia autosomal dominant inheritance family gene |
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