| 脑腱黄瘤病临床、影像学、病理和基因分析一家系报道并文献复习 |
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| 引用本文： | 田地,张在强,陈彬,王新高. 脑腱黄瘤病临床、影像学、病理和基因分析一家系报道并文献复习[J]. 中华临床医师杂志(电子版), 2012, 6(2): 30-32 |
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| 作者姓名： | 田地 张在强 陈彬 王新高 |
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| 作者单位： | 100050,首都医科大学附属北京天坛医院神经内科 |
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| 摘 要： | 目的 对一个脑腱黄瘤病家系进行临床、病理及基因的分析.方法 收集患者病史、家族史,进行影像学检查、神经肌肉活检.对患者及家族成员进行CYP27A1基因突变分析.结果 36岁女性患者,具有典型的脑腱黄瘤病临床表现,跟腱组织可见典型的胆固醇结晶,腓肠神经可见洋葱皮样髓鞘改变.CYP27AI基因新发现2种突变:1号外显子缺失一个鸟嘌呤(C.73delG),而2号外显子缺失一段7核苷酸序列(C.369-375delGTACCCA).家族成员为上述突变的单个突变携带者.结论 先证者可临床诊断脑腱黄瘤病,患者和无症状的家族成员均存在基因突变.
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| 关 键 词： | 黄瘤病,脑腱性 脂质沉积病 细胞色素P450 CYP27A1 |
A clinic, neuro-image, pathologic and gene analysis of a family with cerebrotendinous xanthomatosis |
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| TIAN Di , ZHANG Zai-qing , CHEN Bin , WANG Xin-gao. A clinic, neuro-image, pathologic and gene analysis of a family with cerebrotendinous xanthomatosis[J]. Chinese Journal of Clinicians(Electronic Version), 2012, 6(2): 30-32 |
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| Authors: | TIAN Di ZHANG Zai-qing CHEN Bin WANG Xin-gao |
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| Affiliation: | . Department of Neurology, Tiantan Hospital, Capital Medical University ,Bel＇ing 100050, China Corresponding author： ZHANG Zai-qiang ,Email ：zhangzq007@ sohu. com |
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| Abstract: | Objective To investigate the clinic manifestation,histopathology and sterol 27-hydroxylase gene （CYP27A1） in a Chinese family with cerebrotendinous xanthomatosis （CTX）. Methods The medical history, family history, neuro-imaging,pathology and CYP27A1 gene of the pmband and her family were analyzed. Results The 36- year-old female with a typical CTX clinic manifestation had Spindle-shaped lipid crystal clefts in xanthomas and ＂onion-like demyelination＂ in superficial sural nerve biopsy. The patient was compound heterozygote carrying two deletions in exon 1 （73delG） and exon 2 （369-375delGTACCCA）. The family memebers were carriers. Conclusions The CTX of proband can be diagnosed clinically and all the family memebers carried CYP27A1 mutations. |
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| Keywords: | Xanthomatosis,cerebrotendinous Lipid-storage disease Cytochrome P-450 CYP27A1 |
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