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婴儿型亚历山大病一例三年随访报告 被引量：2

One/A case of Infantilism Alexander's disease three-year follow-up report
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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。 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...
作者 唐章龙 刘影 金基福 李亚林 胡仁平 薛红霞 唐健
机构地区 宣城市癫病临床研究所 华中科技大学生命科学院 华中科技大学生命科学院儿科 宣城市人民医院神经科 宣城市人民医院电生理室
出处 《脑与神经疾病杂志》 2011年第3期217-220,共4页 Journal of Brain and Nervous Diseases
关键词 亚历山大病 癫 表现型 基因突变. Alexander disease Epilepsy Phenotype Mutation
分类号 R742.89 [医药卫生—神经病学与精神病学]
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参考文献8

  • 1张艳,李存江.亚历山大病的诊断[J].中华神经科杂志,2007,40(10):709-711. 被引量：5
  • 2麻宏伟,吕峻峰,姜俊,陈丽英,牛国辉,吴保敏,Naomi Kanazawa,Seiichi Tsujino.一例婴儿型亚历山大病胶质细胞原纤维酸性蛋白基因突变研究[J].中华医学遗传学杂志,2005,22(1):79-81. 被引量：4
  • 3Meisingset TW,Risa,Brenner M,et al.Alteration of glial-neuronalmetabolic interactions in a mouse model of Alexander disease. Glia . 2010
  • 4Tian R,Wu X,Hagemann TL,et al.Alexander disease mutant glialfibrillary acidic protein compromises glutamate transport in astrocytes. Journal of Neuropathology and Experimental Neurology . 2010
  • 5Ayaki T,Shinohara M,Tatsumi S,et al.A case of sporadic adultAlexander disease presenting with acute onset,remission and relapse. Journal of Neurology Neurosurgery and Psychiatry . 2010
  • 6Quinlan R.Cytoskeletal catastrophe causes brain degeneration. Nature Genetics . 2001
  • 7Gorospe JR.Alexander Disease. Gene Reviews . 1993-2002
  • 8Brockmann K,Meins M,Taubert A,et al.Anovel GFAP mutation and disseminated white matter lesions:adult Alexander disease?. European Neurology . 2003

二级参考文献30

  • 1Shiroma N, Kanazawa N, Kato Z, et al. Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. Brain Dev , 2003, 25:116-121.
  • 2Brockmann K, Meins M, Taubert A, et al. A novel GFAP muta tion and disseminated white matter lesions: adult Alexander disease? Eur Neurol ,2003,50:100-105.
  • 3Brenner M, Johnson AB, Boespflug-Tanguy O, et al. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexa nder disease. Nat Genet,2001, 27:117-120.
  • 4Quinlan R. Cytoskeletal catastrophe causes brain degeneration. Na t Genet,2001, 27:10-11.
  • 5Meins M, Brockmann K, Yadav S, et al. Infantile Alexander dis ease: a GFAP mutation in monozygotic twins and novel mutations in two other patients. Neuropediatrics,2002, 33:194-198.
  • 6Rodriguez D, Gauthier F, Bertini E, et al. Infantile Alexande r disease: spectrum of GFAP mutations and genotype-phenotype correlation. A m J Hum Genet,2001, 69:1134-1140.
  • 7Messing A, Goldman JE, Johnson AB, et al. Alexander disease: new insights from genetics. J Neuropathol Exp Neurol, 2001,60: 563-573.
  • 8Nonomura Y, Shimizu K, Nishimoto H, et al. Scoliosis in a patient with Alexander disease. J Spinal Disord Tech, 2002, 15: 261-264.
  • 9Brockmann K, Meins M, Taubert A, et al. Anovel GFAP mutation and disseminated white matter lesions: adult Alexander disease? Eur Neural, 2003, 50: 100-105.
  • 10Johnson AB, Brenner M. Alexander's disease: clinical, pathologic, and genetic features. J Child Neurol, 2003, 18: 625-632.

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脑与神经疾病杂志
2011年 第3期

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