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肯尼迪病一家系二例患者的分子遗传学和皮肤病理学特点 被引量:1

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摘要 临床资料先证者(Ⅲ、)男性,50岁,主因“四肢无力10余年”于2013年1月来我院就诊。患者35岁起逐渐出现双下肢无力,近端为著,爬楼梯和跑步困难。病情缓慢加重,并出现眶周肌、口周肌、肢带肌不自主跳动,双手出现细微的静止性、意向性震颤并伴随性功能障碍。偶有饮水呛咳,无乳房发育异常。
出处 《中华神经科杂志》 CAS CSCD 北大核心 2014年第5期357-358,共2页 Chinese Journal of Neurology
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参考文献8

  • 1Finsterer J. Bulbar and spinal museular atrophy (Kennedy' s disease) : a review[ J ]. Eur J Neurol, 2009,16 : 556-561.
  • 2Dias FA, Munhoz RP, Raskin S, et al. Tremor in X-linked recessive spinal and bulbar muscular alrophy (Kennedy' s disease) [ J]. Clinics ( Sao Paulol), 2011,66 : 955-957.
  • 3Kasper E, Wegrzyn M, Marx I, et al. Minor Cognitive disturbances in x-linked spinal and bulbar muscular atnropby, Kennedy' s disease[ M ]. Amyotroph Lateral Scler Frontotemporal Degener, 2013.
  • 4Battaglia F, Le Galudec V, Cossee M, et al. Kennedy' s disease initially manifesting as an endocrine disorder [ J ]. J Clin Neuromuscul Dis, 2003, 4: 165-167.
  • 5鲁明,樊东升,李小英,梁国威,李英,张华纲,康德瑄,张俊,张捷,王晶.基因确诊的肯尼迪病两例临床与分子生物学特点[J].中华神经科杂志,2007,40(4):232-236. 被引量:34
  • 6Ohta M, Okuyama R, Ogawa E, et al. Cutaneous accumulation of abnormal polyglutamine proteins of patients with dentatorubral- pallidoluysian atrophy[J]. EurJ Neurol, 2009, 16: 1246-1249.
  • 7Li M, Nakagomi Y, Kobayashi Y, et al. Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy[J]. Am J Pathol, 1998. 153 : 69.5-701.
  • 8Sone J, Tanaka F, Koike H,et al. Skin biopsy is useful for the antemortem diagnosis of neuronal intranuelear inclusion disease [J]. Neurology. 2011, 76: 1372-1376.

二级参考文献11

  • 1周盛年,陈耀民,刘黎青,郭斌,陈瑞冬.脊髓延髓性肌萎缩症一例报告[J].中华神经科杂志,2004,37(6):582-582. 被引量:1
  • 2张社卿,丁素菊,郑惠民,蒋德科,李林国,余龙.Kennedy病一家系的临床和分子遗传学[J].中华神经科杂志,2006,39(11):753-757. 被引量:34
  • 3Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology, 1968,18 : 671-680.
  • 4La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in Ⅹ-linked spinal and bulbar muscular atrophy. Nature, 1991,352:77-79.
  • 5Tanaka F, Doyu M, ho Y, et al. Founder effect in spinal and bulbar muscular atrophy (SBMA). Hum Mol Genet, 1996, 5: 1253-1257.
  • 6Parboosingh JS, Figlewicz DA, Krizus A, et al. Spinobulbar muscular atrophy can mimic ALS : the importance of genetic testing in male patients with atypical ALS. Neurology, 1997, 49:568- 572.
  • 7Lumbroso S, Lobaccaro JM, Vial C, et al. Molecular analysis of the androgen receptor gene in Kennedy' s disease. Report of two families and review of the literature. Harm Res, 1997, 47:23-29.
  • 8Antonini G, Gragnani F, RomanieUo A, et al. Sensory involvement in spinal-bulbar muscular atrophy (Kennedy' s disease). Muscle Nerve, 2000, 23:252-258.
  • 9Hamano T, Mutoh T, Hirayama M, et al. Muscle MRI findings of Ⅹ-linked spinal and bulbar muscular atrophy. J Neurol Sci, 2004, 222:93 -97.
  • 10Beitel LK, Scanlon T, Gottlieb B, et al. Progress in spinobulbar muscular atrophy research: insights into neuronal dysfunction caused by the polyglutamine-expanded androgen receptor. Neurotox Res, 2005, 7:219-230.

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