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脑组织铁沉积性神经变性疾病的临床与基因学特点 被引量：4

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摘要 脑组织铁沉积性神经变性（NBIA）疾病是一组以铁离子聚集于脑组织为特点的进行性锥体外系疾病，虽然其发病率尚无确切的统计学资料，但已知发病在种族人群、年龄、性别方面并无明显差异。
作者 王洋 毕鸿雁 赵伟秦 赵亚明
机构地区 首都医科大学附属北京友谊医院神经内科
出处 《中国现代神经疾病杂志》 CAS 2011年第6期647-650,共4页 Chinese Journal of Contemporary Neurology and Neurosurgery
关键词 神经变性疾病 铁代谢障碍 磁共振成像 基因 综述文献
分类号 R741 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献26

  • 1Grimes DA, Lang AE, Bergeron C. Late adult onset chorea with typical pathology of Hallervorden- Spatz syndrome. J Neurol Neurosurg Psychiatry, 2000, 69:392-395. 被引量：1
  • 2Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden- Spatz syndrome) and pantothenate kinase - associated neurodegeneration. Mov Disord, 2004, 19:36-42. 被引量：1
  • 3Shevell M. Racial hygiene, active euthanasia, and Julius Hallervorden. Neurology, 1992, 42:2214-2219. 被引量：1
  • 4Dooling EC, Schoene WC, Richardson EP. Hallervorden-Spatz syndrome. Arch Neurol, 1974, 30:70-83. 被引量：1
  • 5Swaiman KF. Hallervorden- Spatz syndrome. Pediatr Neurol, 2001, 25:102-108. 被引量：1
  • 6Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet, 2009, 46:73-80. 被引量：1
  • 7Morgan NV, Westaway SK, Morton JE, et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet, 2006, 38:752-754. 被引量：1
  • 8Haacke EM, Cheng NY, House M J, et al. Imaging iron stores in the brain using magnetic resonance imaging. Magn Reson Imaging, 2005, 23:1-25. 被引量：1
  • 9Koeppen AH, Diekson AC. Iron in the Hallervorden- Spatz syndrome. Pediatr Neurol, 2001, 25:148-155. 被引量：1
  • 10Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden- Spatz syndrome. Nat Genet, 2001, 28:345-349. 被引量：1

二级参考文献45

  • 1[1]Klyubin I,Walsh DM,Lemere CA,et al.Amyloid beta protein immunotherapy neutralizes Abeta oligumers that disrupt synaptic plasticity in vivo.Nat Med,2005,11:556-561. 被引量：1
  • 2[2]Banks RE,Dunn MJ,Hochstrasser DF,et al.Proteomics:new perspectives,new biomedical opportunities.Lancet,2000,356:1749-1756. 被引量：1
  • 3[3]Berndt P,Hobohm U,Langen H.Reliable automatic protein identification from matrix-assisted laser desorption/ionization mass spectrometric peptide fingerprints.Electrophoresis,1999,20:3521-3526. 被引量：1
  • 4[4]Chamrad DC,Koerting G,Gobom J,et al.Interpretation of mass spectrometry data for high-throughput proteomics.Anal Bioanal Chem,2003,376:1014-1022. 被引量：1
  • 5[5]Perkins DN,Pappin DJ,Creasy DM,et al.Probability-based protein identification by searching sequence databases using mass spectrometry data.Electrophoresis,1999,20:3551-3567. 被引量：1
  • 6[6]Washburn MP,Wohers D,Yates JR 3rd.Large-scale analysis of the yeast proteome by multidimensional protein identification technology.Nat Biotechnol,2001,19:242-247. 被引量：1
  • 7[7]Sadygov RG,Cociorva D,Yates JR 3rd.Large-scale database searching using tandem mass spectra:looking up the answer in the back of the book.Nat Methods,2004,1:195-202. 被引量：1
  • 8[8]Marengo E,Robotti E,Antonucci F,et al.Numerical approaches for quantitative analysis of two-dimensional maps:a review of commercial software and home-made systems.Proteomics,2005,5:654-666. 被引量：1
  • 9[9]Unlu M,MOrgan ME,Minden JS.Difference gel electrophoresis:a single gel method for detecting changes in protein extracts.Electrophoresis,1997,18:2071-2077. 被引量：1
  • 10[10]Klase J.Protein mapping by combined isoelectric focusing and electrophoresis of mouse tissues:a novel approach to testing for induced point mutations in mammals.Humangenetik,1975,26:231-243. 被引量：1

共引文献8

同被引文献48

  • 1张玉虎,唐北沙,窦荣花,陈兵,陈海波,郭纪锋,龙志高,夏昆,潘乾,许波,汤建光,严新翔,沈璐,江泓.Hallervorden-Spatz综合征的临床、磁共振成像特征及泛酸激酶2基因的突变检测[J].中华神经科杂志,2005,38(1):34-37. 被引量：12
  • 2Hayflick SJ, Westaway SK, Levinson B, et al. Cenetic, elinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl Med, 2003, 348:33-40. 被引量：1
  • 3Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet, 2001, 28:345-349. 被引量：1
  • 4Hortnagel K, Prokisch H, Meitinger T. An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitoebondria. Hum Mol Genet, 2003, 12:321-327. 被引量：1
  • 5Kotzbauer PT, Truax AC, Trojanowski JQ, et al. Ahered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2. J Neurosci, 2005, 25:689-698,. 被引量：1
  • 6Zhang YM, Rock CO, Jackowski S. Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration. J Biol Chem, 2006, 281:107-114. 被引量：1
  • 7Pellecehia MT, Valente EM, Cif L, et al. The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.Neurology, 2005, 64:1810-1812. 被引量：1
  • 8Gregory A,Polster BJ,Hayflick SJ.Clinical and genetic delineation of neurodegeneration with brain iron acumulation.J Med Genet,2009,46:73-80. 被引量：1
  • 9Thomas M, Hayflick SJ, Jankovic J.Clinical helerogeneity of neurodegeneration with brain iron accumulation(Hallervorden - Spatz syndrome)and pantothenate kinase - associated neurodegeneration.Mov Disord,2004,19:36-42. 被引量：1
  • 10Molinuevo JL, Marti MJ, Blesa R, et al. Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome. Mov Disord, 2003, 18: 1351-1353. 被引量：1

引证文献4

二级引证文献8

中国现代神经疾病杂志
2011年 第6期

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