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Friedreich共济失调的临床特征及GGA三核苷酸重复突变分析 被引量：1

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摘要 目的研究弗里赖希共济失调(FRDA)的临床特征和X25基因(GAA)n重复序列突变。方法应用聚合酶链反应(PCR)技术结合琼脂糖凝胶电泳分析,对2个临床诊断为(FRDA)的2例患者及4例家系成员进行X25基因(GAA)n重复序列和FRDA患者的临床特征进行分析。结果2例患者及4例家系成员均证实PCR产物大小为500bp,均为纯合子,其等位基因片断中(GAA)n重复序列拷贝数为13个,排除了X25基因(GAA)n突变。2例患者主要表现为进行性躯干共济失调,并首次报道伴随癫痢发作。结论FRDA具有一定的临床和遗传异质性,遗传学分析可以明确诊断。
作者 许波 江泓 唐北沙 张玉虎 汤建光 刘小民 郭纪峰
机构地区 中南大学湘雅医院神经内科
出处 《卒中与神经疾病》 2005年第3期172-174,共3页 Stroke and Nervous Diseases
基金 国家高技术研究发展计划(863)资助项目(2004AA227040) 国家自然科学基金项目(No.30400262) 湖南省科技厅资助项目(04FG3023)
关键词 弗里德赖希共济失调 临床特征 三核苷酸重复等位基因
分类号 R744.7 [医药卫生—神经病学与精神病学]
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参考文献11

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二级参考文献1

共引文献8

同被引文献31

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卒中与神经疾病
2005年 第3期

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