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葡糖脑苷脂酶基因突变与帕金森病的相关性研究进展

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摘要 帕金森病是一种常见的神经系统变性疾病,以色列的研究小组最早在德系犹太人帕金森患者中发现了葡糖脑苷脂酶（GBA）基因变异[1]。葡糖脑苷脂酶基因变异可导致戈谢病,部分戈谢病患者具有帕金森综合征临床特征,
作者 王琛 安星凯 马琪林
机构地区 福建医科大学厦门市第一医院神经内科
出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2012年第6期574-576,共3页 Journal of Apoplexy and Nervous Diseases
基金 2009年福建省科技项目计划(20090001)
关键词 葡糖脑苷脂酶 帕金森病 酶基因突变 相关性 神经系统变性疾病 帕金森综合征 基因变异 临床特征
分类号 R742 [医药卫生—神经病学与精神病学]
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参考文献12

  • 1Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase geneand Parkinson' s disease in ashkenazi jews [J]. N Engl J Med,2004,351:1972 -1977.
  • 2Lwin A, Orvisky E, Goker-Alpan O, et al. Glucocerebrosidase muta- tionsin subjects with parkinsonism [ J ]. Mol Genet Metab, 2004,81 (1) :70 -73.
  • 3石志鸿,张本恕.戈谢病与帕金森病研究进展[J].医学综述,2008,14(4):583-585. 被引量：3
  • 4Clark LN, Nicolai A, Afridi S, et al. Pilot association study of the beta- glucocerebrosidase N370S allele and Parkinson' s disease in subjects of Jewish ethnicity [ J ]. Mov Disord, 2005,20 : 100 - 103.
  • 5Sato C, Morgan A, Lang AE, et al. Analysis of the glucocerebrosidase- gene in Parkinson' s disease [ J ]. Mov Disord, 2005,20 ( 3 ) : 367 - 370.
  • 6Eblan M J, Nguyen J, Ziegler SG, et al. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Vene- zuela [ J ]. Mov Disord ,2006,21 : 282 - 283.
  • 7Mitsui J, Mizuta I,Toyoda A, et al. Mutations for Gaucher disease con- ferHigh susceptibility to parkinson disease[ J ]. Arch Neuro1,2009,66 (5) :571 -576.
  • 8Sun QY. The research on the association between GBA gene mutations and Parkinson' s disease in Chinese population [ D ]. Xiangya School of Medicine, Central South University,2010.
  • 9Buhron G,Kacena K,Pearson D,et al. The risk of Parkinson~ disease in type 1 Gaucher disease[ J]. J Inherit Metab Dis,2010,33 (2) :167 - 173.
  • 10Sunwoo MK, Kim SM, Lee S, et al. Parkinsonism associated with glu- cocerebrosidase mutation[ J]. J Clin Neurol,2011,7 :99 - 101.

二级参考文献16

  • 1Tayebi N,Walker J,Stubblefield B,et al.Gaucher disease with parkinsonian manifestations:dose glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?[J].Mol Genet Metab,2003,79(2):104-109.
  • 2Bembi B,Zambito Marsala S,Sidransky E,et al.Gaucher's disease with Parkinson's disease:clinical and pathological aspects[J].Neurology,2003,61(1):99-101.
  • 3Itokawa K,Tamura N,Kawai N,et al.Parkinsomsm in type 1 Gaucher's disease[J].Intern Med,2006,45(20):1165-1167.
  • 4Goker-Alpan O,Schiffmann R,LaMarca ME,et al.Parkinsonism among Gaucher disease carriers[J].J Med Genet,2004,41(12):937-940.
  • 5Lwin A,Orvisky E,Goker-Alpan O,et al.Glucocerebrosidase mutations in subjects with parkinsonism[J].Mol Genet Metab,2004,81(1):70-73.
  • 6Aharon-Peretz J,badarny S,Rosenbaum H,et al.Mutations in the glucocerebrosidase gene and Parkinson disease:phenotype-genotype correlation[J].Neurology,2005,65(9):1460-1461.
  • 7clark LN,Nicolai A,Afridi S,et al.Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of jewish ethnicity[J].Mov Disord,2005,20(1):100-103.
  • 8Sato C,Morgan A,Lang AE,et al.Analysis of the glucocerebrosidase gene in Parkinson's disease[J].Mov Disord,2005,20(3):367-370.
  • 9Eblan MJ, Nguyen J, Ziegler SG, et al. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela [ J]. Mov Disord, 2006,21 (2) : 282-283.
  • 10Wong K, Sidransky E, Verma A, et al. Neuropathology provides clues to the pathophysiology of Gaucher disease[J]. Mol Genet Metab,2004,82 (3) : 192-207.

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中风与神经疾病杂志
2012年 第6期

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