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ATP13A2基因与帕金森病 被引量:3

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摘要 帕金森病(Parkinson’Sdisease,PD)是一种常见的神经系统退行性疾病,临床主要表现为静止性震颤、运动迟缓、肌强直和姿势步态异常,病理特征是黑质多巴胺能神经元变性缺失和路易小体的形成。发病年龄多在60岁以上。其发病率随年龄的增加而增高,65岁以上老年人群患病率为1%-2%。
出处 《中华神经科杂志》 CAS CSCD 北大核心 2009年第8期559-561,共3页 Chinese Journal of Neurology
基金 基金项目:国家高技术研究发展计划“863计划”(2006AA02A408) 国家重点基础研究发展计划“973计划”资助项目(2006eb500700) 国家自然科学基金资助项目(30370515,30570638,30770735)
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同被引文献44

  • 1陈涛,唐北沙,廖小平.α-突触核蛋白在帕金森病发病机制中的作用[J].中华神经科杂志,2006,39(6):415-418. 被引量:10
  • 2王枫,陈彪,冯秀丽,邹海强,马敬红,董秀敏,李勇杰.PINK1基因多态位点IVS5-5G〉A可能增加中国人晚发性帕金森病的发病风险[J].中华医学遗传学杂志,2007,24(3):305-309. 被引量:9
  • 3中华医学会神经病学分会运动障碍及帕金森病学组.中国帕金森病诊断.中华神经科杂志,2006,39:408-409.
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  • 5Yasuhiro MA, Yeon-Jeong KB, Yukari I, et al. L347P PINKI mutant that fails to bind to Hsp90/Cdc37 chaperones is rapidly degraded in a proteasome-dependent manner. Neuroci Res, 2008, 61:43-48.
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  • 7Schulte C, Gasser T. Genetic basis of Parkinson' s disease: inheritance, penetrance, and expression [ J ]. Appl Clin Genet, 2011,4: 67-80.
  • 8Goedert M, Spillantini MG, Del Tredici K, et al. 100 years of Lewy pathology[J]. Nat Rev Neurol, 2013, 9 (1) : 13-24.
  • 9Oczkowska ~'A, Kozubski W, Liaueri M, et al. Mutations in PRKN and SNCA genes important for the progress of Parkinson' s disease [J]. Curr Genomics, 2013, 14 (8) : 502-517.
  • 10Appel-Cresswell S, Vilarino-Guell C, Encarnacion M, et al. Alpha-synuclein p. H50Q, a novel pathogenic mutation for Parkinson' s disease[J]. Mov Disord, 2013, 28 (6): 811-813.

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