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帕金森病致病基因的研究进展 被引量：4

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摘要 全球约1%~2%的60岁以上老人患有帕金森病(PD)〔1〕。其病理特征主要为黑质致密部多巴胺神经元缺失以及在残留神经元中出现以路易小体(Lewy body)为主的包涵体,具有特定的临床表现,如肌肉僵直、静止性震颤、运动迟缓、感觉异常等〔2〕。PD大多为散发性,但部分受遗传因素影响而呈现家族性。目前在蛋白质错误折叠和聚集、线粒体障碍、氧化应激、免疫炎性异常、细胞凋亡等方面的研究均对PD的发病机制进行了较为系统的阐述。近年来。
作者 卢芳 周世慧 刘树民
机构地区 黑龙江中医药大学中医药研究院
出处 《中国老年学杂志》 CAS CSCD 北大核心 2014年第5期1411-1413,共3页 Chinese Journal of Gerontology
基金 国家自然科学基金青年-面上连续资助项目(81270056) 国家自然科学基金面上项目(81073019) 高等学校博士学科点专项科研基金(No.20102327110004)
关键词 帕金森病 基因 常染色体
分类号 R742.5 [医药卫生—神经病学与精神病学]
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参考文献18

  • 1Lucía Cardo,Eliecer Coto,Lorena Mena,René Ribacoba,Oswaldo Lorenzo-Betancor,Pau Pastor,LLuis Samaranch,Ignacio Mata,Marta Díaz,Germán Moris,Manuel Menéndez,Ana Corao,Victoria Alvarez.A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson’s Disease[J]. Journal of Molecular Neuroscience . 2012 (3)
  • 2Hon-Chung Fung,Chiung-Mei Chen,John Hardy,Andrew B. Singleton,Guey-Jen Lee-Chen,Yih-Ru Wu.Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan[J]. Neuroscience Letters . 2005 (1)
  • 3张颖,胡国华,陈秋惠,张海娜,胡馨予,姜立刚.家族性帕金森病一家系的临床特征及PARK1基因突变分析[J].中国老年学杂志,2010,30(3):299-301. 被引量：2
  • 4Rainer Coelln,Valina L. Dawson,Ted M. Dawson.Parkin-associated Parkinson’s disease[J]. Cell and Tissue Research . 2004 (1)
  • 5Demetrius M.Maraganore,Timothy G.Lesnick,AlexisElbaz,Marie‐ChristineChartier‐Harlin,ThomasGasser,RejkoKrüger,NobutakaHattori,George D.Mellick,AldoQuattrone,Jun‐IchiSatoh,TaksushiToda,JianWang,John P.A.Ioannidis,Marizade Andrade,Walter A.Rocca.UCHL1 is a Parkinson’s disease susceptibility gene[J]. Ann Neurol. . 2004 (4)
  • 6Kaori Nishikawa,Hang Li,Ryoichi Kawamura,Hitoshi Osaka,Yu-Lai Wang,Yoko Hara,Takatsugu Hirokawa,Yoshimasa Manago,Taiju Amano,Mami Noda,Shunsuke Aoki,Keiji Wada.Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants[J]. Biochemical and Biophysical Research Communications . 2003 (1)
  • 7王香明,王丹巧,汪晓燕.帕金森病相关基因功能研究进展[J].遗传,2010,32(8):779-784. 被引量：5
  • 8Alessio Fonzo,Yah-Huei Wu-Chou,Chin-Song Lu,Marina Doeselaar,Erik J. Simons,Christan F. Rohé,Hsiu-Chen Chang,Rou-Shayn Chen,Yi-Hsin Weng,Nicola Vanacore,Guido J. Breedveld,Ben A. Oostra,Vincenzo Bonifati.A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan[J]. Neurogenetics . 2006 (3)
  • 9Rieko Setsuie,Yu-Lai Wang,Hideki Mochizuki,Hitoshi Osaka,Hideki Hayakawa,Nobutsune Ichihara,Hang Li,Akiko Furuta,Yae Sano,Ying-Jie Sun,Jungkee Kwon,Tomohiro Kabuta,Kenji Yoshimi,Shunsuke Aoki,Yoshikuni Mizuno,Mami Noda,Keiji Wada.Dopaminergic neuronal loss in transgenic mice expressing the Parkinson’s disease-associated UCH-L1 I93M mutant[J]. Neurochemistry International . 2006 (1)
  • 10E.M. Valente,F. Brancati,V. Caputo,E.A. Graham,M.B. Davis,A. Ferraris,M.M.B. Breteler,T. Gasser,V. Bonifati,A.R. Bentivoglio,G. De Michele,A. Dürr,P. Cortelli,A. Filla,G. Meco,B.A. Oostra,A. Brice,A. Albanese,B. Dallapiccola,N.W. Wood.PARK6 is a common cause of familial parkinsonism[J]. Neurological Sciences . 2002 (2)

二级参考文献59

  • 1王新德.帕金森病及帕金森综合征的诊断标准和鉴别诊断[J].中华神经精神科杂志,1985,18(4):256-256.
  • 2[1]Kitada T,Asakawa S,Hattori N,et al.Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.Nature,1998,392:605-608.
  • 3[2]Lucking CB,Durr A,Bonifati V.Association between early-onset Parkinson's disease and mutations in the parkin gene.N Engl J Med,2000,342:1560-1567.
  • 4[3]Lincoln SJ,Maraganore DM,Lesnick TG,et al.Parkin variants in North American Parkinson's disease:cases and controls.Mov Disord,2003,18:1306-1311.
  • 5[5]Toda T,Momose Y,Murata M,et al.Toward identification of susceptibility genes for sporadic Parkinson's disease.J Neurol,2003,250 (Suppl 3):40-43.
  • 6[6]Dekker MCJ,Bonifati1 V,Van Duijn CM.Parkinson's disease:piecing together a genetic jigsaw.Brain,2003,126:1722-1733.
  • 7[7]Satoh J,Kuroda Y.Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease.Neuroreport,1999,10:2735-2739.
  • 8[8]Mellick GD,Buchanan DD,Hattori N,et al.The parkin gene S/N167 polymorphism in Australian Parkinson's disease patients and controls.Parkinsonism Relat Disord,2001,7:89-91.
  • 9[10]Lucking CB,Chesneau V,Lohmann E,et al.Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.Arch Neurol,2003,60:1253-1256.
  • 10[11]Oliveri RL,Zappia M,Annesi G,et al.The parkin gene is not involved in late-onset Parkinson's disease.Neurology,2001,57:359-362.

共引文献14

同被引文献35

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二级引证文献11

中国老年学杂志
2014年 第5期

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