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表现为反复喉返神经麻痹的遗传性压力易患性神经病一例 被引量：3

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摘要 遗传性压力易患性神经病（HNPP）足一种临床少见的常染色体显性遗传性周围神经病，常累及腓总神经、桡神经和尺神经等，脑神经较少受累。现报道上海市静安区中心医院神经内科收治的1例经基因确诊的表现为反复喉返神经麻痹的HNPP供临床参考。
作者 刘华 赵重波 吴慧 王玮璐
机构地区 上海市静安区中心医院神经内科 复旦大学附属华山医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2015年第11期1011-1012,共2页 Chinese Journal of Neurology
基金 上海市卫计委重点项目（201440019）
关键词 遗传性周围神经病 喉返神经麻痹 易患性 压力 反复 常染色体显性 区中心医院 腓总神经
分类号 R745 [医药卫生—神经病学与精神病学]
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参考文献6

  • 1张付峰,唐北沙,严新翔,江泓,沈璐,夏昆.经基因诊断确诊的遗传性压迫易感性神经病临床特点分析[J].中华神经科杂志,2006,39(7):440-443. 被引量：15
  • 2Luigetti M, Del Grande A, Conte A, et al. Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience [J]. J Neurol Sci, 2014, 341(1-2): 46- 50.
  • 3Rana AQ, Masroor MS. tiereditary neuropathy with liability to pressure palsy: a brief view with a case report [ J ]. lnt J Neuroi, 2012, 122(3) : 119-123.
  • 4de Vries SD, Verhamme C, van Ruissen F, et al. The phenotype of the Gly94fsX222 PMP22 insertion [ J ]. J Peripher Nerv Syst, 2011, 16(2): 113- 118.
  • 5Winter WC, Juel VC. Hypoglossal neuropathy in hereditary neuropathy with liability to pressuro palsy [ J ]. Neurology, 2003, 61(8) : 1154-1155.
  • 6Potulska-Chromik A, Sinkiewicz-Darol E, Ryniewicz B, et al. Clinical, electrophysiological, and molecular findings in early ont hereditary neuropa/hy with liability to pressure palsy [ J ]. Muscle Nerve, 2014, 50(6) : 914-918.

二级参考文献14

  • 1陈琳，郭玉璞．遗传性压迫易感性神经麻痹．见：刘焯霖，梁秀龄，张成，主编．神经遗传病学．第2版．北京：人民卫生出版社，2002．80-84．
  • 2Chance PF, Alderson MK, Leppig KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell, 1993, 72:143-151.
  • 3Aarskog NK, Vedeler CA. Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet, 2000, 107:494-498.
  • 4Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCB and the 2^△△Ct method. Methods,2001, 25: 402-408.
  • 5Meretoja P, Silander K, Kalimo H, et al. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord, 1997, 7 : 529-532.
  • 6Simonetti S. Lesion of the anterior branch of axillary nerve in a patient with hereditary neuropathy with liability to pressure palsies.Eur J Neurol, 2000, 7: 577-579.
  • 7Gouider R, LeGuem E, Gugenheim M, et al. Clinical,dectrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11. 2 deletion. Neurology, 1995, 45: 2018-2023.
  • 8Amato AA, Gronseth GS, Callerame KJ, et al. Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2. Muscle Nerve, 1996, 19 : 16-22.
  • 9Mouton P, Tardieu S, Gouider R, et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology, 1999, 52: 1440-1446.
  • 10Madman EC, Gabrcels-Festen AA, van Beersum SE, et al.Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol, 1994, 36:650-655.

共引文献14

同被引文献22

引证文献3

二级引证文献7

中华神经科杂志
2015年 第11期

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