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| 婴儿型亚历山大病一例三年随访报告 | |
| 引用本文： | 唐章龙,刘影,金基福,李亚林,胡仁平,薛红霞,唐健. 婴儿型亚历山大病一例三年随访报告[J]. 脑与神经疾病杂志, 2011, 19(3): 217-220 |
| 作者姓名： | 唐章龙 刘影 金基福 李亚林 胡仁平 薛红霞 唐健 |
| 作者单位： | 1. 宣城市癫(痫)病临床研究所,安徽,242000 2. 华中科技大学生命科学院 3. 华中科技大学生命科学院儿科 4. 宣城市人民医院神经科 5. 宣城市人民医院电生理室 |
| 摘 要： | 目的探讨我国亚历山大病的遗传学特征、基因表型、临床表现与治疗方法,为诊断、预防及治疗本病提供临床依据。方法对一例国内家庭的婴儿型亚历山大病患者采用临床家系调查、三年临床追踪,并对包括父母在内的10名成员进行胶质细胞原纤维酸性蛋白(glial fibrillary acidic protein,GFAP)基因突变分析。方法本例患者临床特征为癫发作、智能障碍和脑白质发育不良,GFAP基因第一外显子呈现c.235C>T错义突变,家族中包括父母在内的10名成员未显异常。结论亚历山大病是一种罕见的神经系统疾病,该突变导致编码蛋白GFAP第79位精氨酸被半胱氨酸替代(R79C)。这在中国人群中亚历山大病的GFAP基因突变尚属首次报道,对于了解中国人亚历山大病的GFAP基因突变及临床特征可能具有一定的帮助。 |
| 关 键 词： | 亚历山大病 癫 表现型 基因突变。 |
One/A case of Infantilism Alexander's disease three-year follow-up report |
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| TANG Zhang-long,LIU Ying,JIN Ji-fu,LI Ya-lin,HU Ren-ping,XUE Hong-xia,TANG jian. One/A case of Infantilism Alexander's disease three-year follow-up report[J]. Journal of Brain and Nervous Diseases, 2011, 19(3): 217-220 | |
| Authors: | TANG Zhang-long LIU Ying JIN Ji-fu LI Ya-lin HU Ren-ping XUE Hong-xia TANG jian |
| Affiliation: | TANG Zhang-long,LIU Ying,JIN Ji-fu,LI Ya-lin,HU Ren-ping,XUE Hong-xia,TANG jian.Epilepsy Clinical Research Center of Xuancheng,Anhui 242000,China |
| Abstract: | Objective The relationship among genetic characterization,genotype and phenotype of Alexander disease in a Chinese pedigree was discussed here and miglct be helpful for the clinical prophylaxis,diagnose and therapy.Methods A Chinese pedigree with infancy Alexander disease was studied here and the proband had been traced and observed clinically for 3 years.We've taken a sequencing analysis of the gene GFAP of ten members in this pedigree including the proband's parents.Results Alexander disease was character... |
| Keywords: | Alexander disease Epilepsy Phenotype Mutation |
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