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遗传性压力易感性周围神经病的中枢神经系统改变 被引量：17

Changes of central nervous system in patients with hereditary neuropathy with liability to pressure palsies
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摘要 遗传性压力易感性周围神经病（hereditary neuropathy with liability to pressure palsies，HNPP）是一种常染色体显性遗传疾病，由De Jong于1947年首先描述。Chance等1993年发现HNPP与含有PMP22基因的染色体17p11.2的缺失有关。HNPP临床上表现为肢体轻微受压即可发生反复发作的单神经或多神经麻痹，可有运动和感觉障碍，压迫性麻痹常累及尺神经、桡神经和腓总神经，多数病例可自行好转，一般在数周或数月后缓慢恢复。
作者 黄靓 梁战华
机构地区 大连医科大学附属第一医院神经内科
出处 《中华神经医学杂志》 CAS CSCD 北大核心 2011年第10期1076-1077,共2页 Chinese Journal of Neuromedicine
关键词 周围神经系统疾病 遗传 中枢神经系统 Peripheral nervous system disease Heredity Central nervous system
分类号 R745 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献14

  • 1Chance 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.
  • 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
  • 3Quarles RH. Myelin sheaths: glycoproteins involved in their formation, maintenance and degeneration [J]. Cell Mol Life Sci, 2002, 59(11): 1851-1871.
  • 4Parmantier 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.
  • 5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
  • 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.

二级参考文献50

  • 1崔芳,黄旭升.遗传性压迫易感性神经病的研究进展[J].第三军医大学学报,2004,26(7):647-648. 被引量：9
  • 2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
  • 3Meretoja 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.
  • 4Li J, Krajewski K, Shy ME, et al. Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology, 2002,58 : 1769-1773.
  • 5Gouider 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.
  • 6Mouton 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.
  • 7Kumar 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.
  • 8Koike 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.
  • 9Drouet 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.
  • 10Verhagen 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.

共引文献15

同被引文献135

引证文献17

二级引证文献178

中华神经医学杂志
2011年 第10期

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