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神经电生理检测在遗传性压力易患性周围神经病诊断中的价值 被引量：2

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摘要 遗传性压力易患性周围神经病（hereditary neuropathy with liability to pressure palsies，HNPP）是一种少见的常染色体显性遗传的周围神经病。临床上表现为青少年起病，以反复发作的易受嵌压部位的周围神经麻痹为特点，通常会由轻压迫或牵拉所诱发，神经电生理检测提示弥漫性神经传导速度减慢，并以嵌压部位为重。目前，临床治疗方式主要是通过避免压迫对神经造成的损伤，因此，HNPP的早期临床诊断和预防极为重要，我们就神经电生理检测在该病诊断中的价值作一综述。
作者 黄靓 梁战华 宋春莉
机构地区 大连医科大学附属第一医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2011年第9期630-631,共2页 Chinese Journal of Neurology
关键词 早期临床诊断 周围神经病 电生理检测 易患性 遗传性 价值 压力 常染色体显性遗传
分类号 R587.2 [医药卫生—内分泌]
  • 相关文献

参考文献15

  • 1Meretoja P, Silander K, Kalimo H, et al. Epidemiology of hereditary neuropatby with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord, 1997, 7 : 529-532.
  • 2Li J, Krajewski K, Shy ME, et al. Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology, 2002,58 : 1769-1773.
  • 3Gouider R, LeGuem E, Gugenheim M, et al. Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17pll. 2 deletion. Neurology, 1995, 45: 2018- 2023.
  • 4Mouton P, Tardieu S, Gouider R, et al. Spectrum of clinical and electrophysiologic features in I-INPP patients with the 17p11.2 deletion. Neurology, 1999, 52: 1440-1446.
  • 5Kumar N, Cole J, Parry GJ. Variability of presentation in hereditary neuropathy with liability to pressure palsy results in underrecognition. Ann N Y Acad Sci, 1999, 883: 344-350.
  • 6Koike H, Hirayama M, Yamamoto M, et al. Age associated axonal features in I-INPP with 17pl 1.2 deletion in Japan. J Neurol Neurosurg Psychiatry, 2005, 76 : 1109-1114.
  • 7贾志荣,孙葳,王洪霞,石昕,孙相如,黄一宁.遗传性压力易感性周围神经病临床神经电生理检测的意义[J].中华神经科杂志,2007,40(8):525-529. 被引量：6
  • 8Drouet A, Guilloton L, Ribot C. Diagnostic value of classical neurophysiologic profile in various phenotypes of hereditary, pressure-sensitive neuropathies. Rev Med Interne, 2002, 23: 364-371.
  • 9Verhagen WI, Huygen PL, Gabreels-Festen AA, et al. Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutation. Otol Neurotol, 2005, 26 : 405-414.
  • 10Tackenberg B, Moller JC, Rindock H, et al. CNS involvement in hereditary neuropathy with pressure palsies (HNPP). Neurology, 2006, 67 : 2250-2252.

二级参考文献58

  • 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
  • 2De Jong JGY.Over families met hereditaire dispositie tot het optreden van neuritiden gecorreleered met migraine[J].Psychiatr Neurol Bu11,1947,50:60-76
  • 3Chance PF,Aiderson MK,Leppig KA,et al.DNA deletion associated with hereditary neuropathy with liability to pressure palsiesJ].Cell,1993,72:143-151
  • 4Nelis E,Van Broeckhoven C,De Jonghe P,et al.Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hererditaty neuropathy with liability to pressure palsies:a European collaborative study[J].Eur J Hum Genet,1996,4:25-33
  • 5Sanahuja J,Franco E,Rojas-Garcia R,et al.Central nervous system involvement in hereditary neuropathy with liability to pressure palsies-description of a large family with this association[J].Arch Neurol,2005,62:1911-1914
  • 6Nicholson GA,Valentijn LJ,Cherryson AK,et al.A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies[J].Nat Genet,1994,6:263-266
  • 7Pareyson D,Taroni F.Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies[J].Curr Opin Neurol,1996,9:348-354
  • 8Bort S,Nelis E,Timmerman V,et al.Mutational analysis of the MPZ,PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies[J].Hum Genet,1997,99:746-754
  • 9Young P,Wiebusch H,Stogbauer F,et al.A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies[J].Neurology,1997,48:450-452
  • 10Sahenk Z,Chen L,Freimer M.A novel PMP22 point mutation causing HNPP phenotype:studies on nerve xenografts[J].Neurology,1998,51:702-707

共引文献10

同被引文献29

  • 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
  • 2王洪霞,贾志荣.遗传性压力易感性周围神经病[J].中华神经科杂志,2007,40(8):566-568. 被引量：5
  • 3Chance PF, Alderson MK, Leppig KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies[J]. Cell, 1993, 72(1): 143-151.
  • 4Quarles RH. Myelin sheaths: glycoproteins involved in their formation, maintenance and degeneration [J]. Cell Mol Life Sci, 2002, 59(11): 1851-1871.
  • 5Parmantier E, Cabon F, Braun C, et al. Peripheral myelin protein-22 is expressed in rat and mouse brain and spinal cord motoneurons [J]. Neuroscience, 1995, 7(5): 1080-1088.
  • 6Bronstein JM, Popper P, Micevych PE, et al. Isolation and characterization of a novel oligodendrocyte-specific protein [J]. Neurology, 1996, 47(3): 772-778.
  • 7Amato AA, Barohn RJ. Hereditary neuropathy with liability to pressure palsies: association with central nervous system demyelination[J]. Muscle Nerve, 1996, 19(6): 770-773.
  • 8Schneider C, Reiners K, Friedl W, et al. Involvement of the visual pathway in hereditary neuropathy with liability to pressure palsies [J]. Neurology, 2000, 247(3): 222-223.
  • 9Dackovic J, Rakocevic-Stojanovic V, Pavlovic S, et al. Hereditary neuropathy with liability to pressure palsies associated with central nervous system myelin lesions[J]. Neurology, 2001, 8(6): 689-692.
  • 10Sanahuja J, Franco E, Rojas-Garcia R, et al. Central nervous system involvement in hereditary neuropathy with liability to pressure palsies[J]. Arch Neurol, 2005, 62(12): 1911-1914.

引证文献2

二级引证文献22

中华神经科杂志
2011年 第9期

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