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家族性帕金森病的研究进展 被引量:1

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摘要 帕金森病临床分为特发性/散发性帕金森病、家族性/遗传性帕金森病、继发性帕金森病和帕金森综合征。随着分子遗传学和分子生物学的发展,应用全基因组扫描、连锁分析、单体型分析和受累同胞对分析等技术方法。目前,已定位了12个家族性帕金森病的致病基因位点(4q21-23、2p13、4p14-16.3/4p15、4p14/4p14-15、12p11.2-q13、6q25.2-27、1p35-36、1p36、1p36、1q32、2q36-37和Xq21-q25),克隆了6个家族性帕金森病的致病基因(a-Synu-clein、parkin、UCH-L1、PINKl、DJ-1和LRRK2)。本文就其与家族性帕金森病的致病关系研究进展作一综述。
出处 《国外医学(老年医学分册)》 2008年第1期36-40,共5页 Foreign Medical Sciences(Geriatrics)
基金 江西省教育厅科技课题资助项目(No:赣教技字[2005]183号)
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  • 1Hardy J, Cai H, Cookson MR et al. Genetics of Parkinson' s disease and parkinsonism. Ann Neurol, 2006 ; 60 (4) : 389 - 398.
  • 2Ibanez P, Bonnet AM, Debarges Bet al. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet, 2004; 364 (9440): 1169 - 1171.
  • 3Cuervo AM, Stefanis L, Fredenburg R et al. lmpaired degradation of mutant alpha - synuclein by chaperone - mediated autophagy. Science, 2004; 305 (5688) : 1292 - 1295.
  • 4Karamohamed S, DeStefano AL, Wilk JB et al. A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology, 2003; 61 (11) : 1557 - 1561.
  • 5Gasser T. Molecular genetics of Parkinson's disease. Adv Neurol, 2001 ; 86 : 23 - 32.
  • 6Gwinn-Hardy K, Mehta ND, Farrer Met al. Distinctive neuropathology revealed by alpha - synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. Acta Neuropathol, 2000, 99 (6): 663-672.
  • 7Cordato DJ, Chan DK. Genetics and Parkinson's disease. J Clin Neurosci, 2004; 11 (2): 119-123.
  • 8Farrer M, Destee T, Becquet E et al. Linkage exclusion in French families with probable Parkinson's disease. Mov Disord, 2000; 15 (6): 1075-1083.
  • 9Whaley NR, Uitti RJ, Dickson DW et al. Clinical and pathologic features of families with LRRK2 - associated Parkinson's disease. J Neural Transm Suppl, 2006; (70) : 221 - 229.
  • 10Khan NL, Jain S, Lynch JM et al. Mutations in the gene LRRK2 encoding dardarin (PARKS) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain, 2005; 128 (Pt12) : 2786 -2796.

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