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Kennedy病研究进展 被引量：3

Advance in study of Kennedy disease
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摘要 Kennedy病又称为脊髓延髓肌萎缩症,是一种成年期起病的运动神经元病,以下运动神经元损害及不完全性雄激素不敏感综合征症状为主要临床特征,目前尚无特效的治疗方法。本文从流行病学、病因学、发病机制、临床特征、治疗及预后等方面进行综述。 Kennedy disease, a motor neuron disease,is an adult onset form of spinal and bulbar amyotrophy characterized by the damage of low motor neuron and uncompleted androgen insensitivity syndrome. So far, there is no effective treatment. This article is intended to provide neurologist with information about Kennedy disease in epidemiology, etiology, pathogenesis, clinical feature, treatment and so on.
作者 杨娟 任惠 张成
机构地区 昆明医学院第一附属医院神经内科 中山大学附属第一医院神经科
出处 《中国实用内科杂志》 CAS CSCD 北大核心 2010年第6期562-564,共3页 Chinese Journal of Practical Internal Medicine
关键词 Kennedy病 运动神经元病 Kennedy disease motor neuron disease
分类号 R5 [医药卫生—内科学]
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参考文献14

  • 1Guidetti D, Sabadini R, Ferlini A, et al. Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy [ J ]. Eur J Epidemiol,2001, 17(6) :587 -589.
  • 2Fischbeck KH. Kennedy disease[ J]. J Inher Metab Dis, 1997,20 (2) :152 -158.
  • 3Morrison PJ,Mirakhur M,Patterson VH. Discordant repeat size and phenotype in Kennedy syndrome [ J ]. Clin Genet, 1998,53 ( 4 ) : 276 - 277.
  • 4Eriea S, Chevalier-Larsen, Diane E, et al. Molecular Pathogenesis of Polyglutamine Disease: Spinal and Bulbar Muscular Atrophy [ J ]. Protein Reviews,2007,6:481 - 495.
  • 5La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy [J]. Nature,1991,352(6330) :77 -79.
  • 6Monks DA,Rao P, Mo K,et al. Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy [ J ]. Horm Behav,2008,53 ( 5 ) :729 - 740.
  • 7Lieberman AP, Robins DM. The Androgen Receptor's CAG/Glutamine Tract in Mouse Models of Neurological Disease and Cancer [J]. J Alzheimers Dis,2008,14(2) :247 -255.
  • 8Greenland KJ, Beilin J, Castro J, et al. Polymorphie CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygoas female carrier of Kennedy's disease [J]. J Neuro1,2004,251 ( 1 ) :35 -41.
  • 9Morfini G, Pigino G, Szebenyi G, et al. JNK mediates pathology effects of polyglutamine expanded androgen receptor on fast axonal transport [ J ]. Nature Neuroscience,2006,9:907 - 916.
  • 10Vucic S, Kiernan MC. Pathophysiologic insights into motor axonal function in Kennedy disease [ J ]. Neurology, 2007,69 ( 19 ) : 1828 - 1835.

二级参考文献23

共引文献41

同被引文献27

  • 1Finsterer J.Perspectives of Kennedy's disease[J].J Neurol Sci,2010,298(1-2):1-10.
  • 2La Spada AR,Wilson EM,Lubahn DB,et al.Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy[J].Nature,1991,352(6330):77-79.
  • 3Lieberman AP,Robins DM.The Androgen Receptor's CAG/Glutamine Tract in Mouse Models of Neurological Disease and Cancer[J].J Alzheimers Dis,2008,14(2):247-255.
  • 4Monks DA,Rao P,Mo K,et al.Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy[J].Horm Behav,2008,53(5):729-740.
  • 5Caballero PE. Klinefelter' s syndrome associated with progressive muscular atrophy simulating Kennedy' s disease [ J ]. Ann Indian Acad Neurol,2012,15 (3) :227 -229.
  • 6Finsterer J. Perspectives of Kennedy' s disease [ J ]. J Neurol Sci, 2010,298(1 -2) :1 - 10.
  • 7Grunseich C, Rinaldi C, Fischbeck K. Spinal and bulbar muscular at- rophy:pathogenesis and clinical management[J]. Oral Dis,2013,23. doi:10, 1111/odi. 12121.
  • 8La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutation in X-linked spinal and bulbar muscular atrophy[ J ]. Nature, 1991,352(6330) :77 -79.
  • 9La Spada A. Spinal and Bulbar Muscular Atrophy[ M]. 1999 Feb 26 [ Updated 2011 Oct 13]. In:Pagon RA,Bird TD,Dolan CR,et al,ed- itors. GeneReviews. Seattle ( WA ) : University of Washington, Seat- tie, 1993 - 2011.
  • 10Sperfeld AD, Karitzky J, Brummer D, et al. X-linked bulbospinal neu- ronopathy : Kennedy disease [ J ]. Arch Neurol,2002,59 ( 12 ) : 1921 - 1926.

引证文献3

二级引证文献6

中国实用内科杂志
2010年 第6期

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