| 中国人家族性特发性基底节钙化病(附一家系报道及文献复习) |
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| 引用本文： | 高伟,吴立文.中国人家族性特发性基底节钙化病(附一家系报道及文献复习)[J].中国民康医学,2011,23(21):2619-2621. |
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| 作者姓名： | 高伟 吴立文 |
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| 作者单位： | 1. 北京大学首钢医院神经内科,北京,100144
2. 中国医学科学院中国协和医科大学北京协和医院神经内科 |
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| 摘 要： | 目的:分析中国人家族性特发性基底节钙化(Fahr)病的临床特点和发病机制。方法:报道1个家系Fahr病,并复习既往国内文献的14个家系49例资料,探讨其临床和影像学特征。结果:家族性Fahr病为常染色体隐性或显性遗传,临床主要表现为智能减退、锥体外系损害、癫痫发作和精神异常;神经影像学检查显示双侧对称性基底节、齿状核及大脑皮质钙化。结论:家族性Fahr病临床症状多样,诊断主要依赖于阳性家族史和头颅CT/MRI检查;微量元素铁、钙、磷等的代谢在发病机制中起了重要的作用。
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| 关 键 词： | Fahr 家族 |
Chinese familial Fahr's disease |
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| GAO Wei,WU Li-wen.Chinese familial Fahr's disease[J].medical journal of chinese peoples health,2011,23(21):2619-2621. |
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| Authors: | GAO Wei WU Li-wen |
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| Institution: | GAO Wei,WU Li-wen(Department of Neurology,Peking University Shougang Hospital,Beijing 100144,China) |
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| Abstract: | Objective:To analysis the clinical features and pathogenesis of chinese familial Fahr's disease(FFD).Methods:We present the family of three patients with FFD and review 14 families with FFD reported previously in China.Forty-nine patients aged 3.5-69 years were diagnosed as having FFD on the basis of the presence on neuroimaging of extensive cerebral calcifications.Results: FFD with autosomal dominant or recessive inheritance is characterized by dementia,extra-pyramidal syndrome,epileptic seizures,psychiatr... |
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| Keywords: | Fahr Family |
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