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X-连锁肾上腺脑白质营养不良的症状前分子诊断 被引量：2

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摘要 X-连锁肾上腺脑白质营养不良（X—linked adrenoleukodystrophy，X．ALD）是一种主要侵犯大脑、肾上腺等器官的遗传性疾病。该病的致病基因定位于Xq28，称为ABCD1基因。X—ALD患者一旦发病，往往产生不可逆的神经系统症状，尤以儿童大脑型的预后最差，发病后的平均生存时间仅为3年左右，
作者 王志红 黄梁浒 柯龙凤 兰风华
机构地区 南京军区福州总医院遗传病分子诊断中心
出处 《中华神经科杂志》 CAS CSCD 北大核心 2008年第7期460-461,共2页 Chinese Journal of Neurology
关键词 X-连锁肾上腺脑白质营养不良 分子诊断 症状前 ABCD1基因 致病基因定位 神经系统症状 遗传性疾病 生存时间
分类号 R686 [医药卫生—骨科学]
  • 相关文献

参考文献5

  • 1王志红,黄梁浒,兰风华.变性HPLC法在肾上腺脑白质营养不良分子诊断中的应用[J].中华检验医学杂志,2007,30(2):157-160. 被引量：2
  • 2Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain, 1997, 120 Pt 8: 1485-1508.
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  • 5Moser HW, Raymond GV, Dubey P. Adrenoleukodystrophy: new approaches to a neurodegenerative disease. JAMA, 2005, 294: 3131-3134.

二级参考文献10

  • 1黄梁浒,曾健,杨渤生,黄惠娟,吴玉水,兰风华.3个肾上腺脑白质营养不良家系的基因突变分析[J].中华医学遗传学杂志,2004,21(3):193-197. 被引量：14
  • 2Montagna G,Di Biase A,Cappa M,et al.Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.Hum Mutat,2005,25:222-227.
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  • 5Guimaraes CP,Lemos M,Menezes I,et al.Characterization of two mutations in the ABCD1 gene leading to low levels of normal ALDP.Hum Genet,2001,109:616-622.
  • 6Guimaraes CP,Lemos M,Sa-Miranda C,et al.Molecular characterization of 21 X-ALD Portuguese families:identification of eight novel mutations in the ABCD1 gene.Mol Genet Metab,2002,76:62-67.
  • 7Biggin A,Henke R,Bennetts B,et al.Mutation screening of the mitochondrial geome using denaturing high-performance liquid chromatography.Mol Genet Metab,2005,84:61-74.
  • 8Yamanoshita O,Kubota T,Hou J,et al.DHPLC is superior to SSCP in screeing p53 mutations in esophageal cancer tissues.Int J Cancer,2005,114:74-79.
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共引文献1

同被引文献40

  • 1张为西,文秀雄,许多荣,周琛,冷雁.肾上腺脑白质营养不良的临床特点[J].临床神经病学杂志,2008,21(6):407-409. 被引量：5
  • 2倪俊,王建明,李舜伟.以投射纤维损害为主的肾上腺脑白质营养不良一例[J].中华医学杂志,2003,83(22):2000-2001. 被引量：2
  • 3包新华,平莉莉,王爱花,潘虹,吴晔,熊晖,张月华,时春艳,秦炯,吴希如.X-连锁肾上腺脑白质营养不良产前诊断探讨[J].中华医学遗传学杂志,2007,24(1):1-5. 被引量：4
  • 4平莉莉,包新华,王爱花,潘虹,吴晔,熊晖,姜玉武,秦炯,吴希如.X连锁肾上腺脑白质营养不良89例临床特征及基因型/表型关系[J].中华儿科杂志,2007,45(3):203-207. 被引量：21
  • 5Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review [ J ]. AJNR Am J Neuroradiol, 2013, 34(1): 5-13.
  • 6Helman G, Van Haren K, Bonkowsky JL, et al. Disease specific therapies in leukodystrophies and leukoeneephalopathies[ J]. Mol Genet Matab, 2015,114(4) : 527-536.
  • 7Spitzer P, Kohl Z, G61itz P, et al. Biochemical markers of neurodegeneration in hereditary diffuse leucoencephalopathy with spheroids[J]. BMJ Case Rep, 2014. pii: bcr2012008510, doi: 10.1136/ber-2012-O08510.
  • 8Kim E J, Shin H, Lee JH, et al. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases [ J ]. J Neurol Sci, 2015, 349( 1-2): 232-238.
  • 9Kondo Y, Kinoshita M, Fukushima K, et al. Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R[J]. Intern Med, 2013, 52(4) : 503-506.
  • 10Gsricke B, Lingor P, Stadelmann-Nessler C, et al. Cerebellar- type multiple system atrophy presenting with leucoencephalopathy [J]. J Neurol Neurosurg Psychiatry, 2012, 83(2) : 230-232.

引证文献2

二级引证文献7

中华神经科杂志
2008年 第7期

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