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巨轴索神经病一例临床、病理与分子遗传学 被引量：2

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摘要 巨轴索神经病（giant axonal neuropathy，GAN）是一种罕见的常染色体隐性遗传病，1972年首次报道，到1997年，文献报道全世界共有20多个家系，我国尚未见报道。GAN的临床特征是儿童期发病，进行性运动感觉性周围神经病并伴有中枢神经系统损害。多数GAN患者有紧密卷曲的头发。电生理检查显示长度依赖性的轴索病变，伴不同程度的脱髓鞘。
作者 徐敏 刘璐 耿志伟 贾建平
机构地区 首都医科大学宣武医院神经内科 黑龙江省大庆油田总医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2008年第7期462-464,共3页 Chinese Journal of Neurology
关键词 轴索神经病 临床特征 分子遗传学 常染色体隐性遗传病 中枢神经系统损害 感觉性周围神经病 病理 电生理检查
分类号 R686 [医药卫生—骨科学]
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参考文献12

  • 1Bomont P, Cavalier L, Blondeau F, et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet, 2000,26: 370-374.
  • 2Lampl Y, Eshel Y, Ben-David E, et al. Giant axonal neuropathy with predominant central nervous system manifestations. Dev Med Child Neurol, 1992, 34 : 164-169.
  • 3Malandrini A, Dotti MT, Battisti C, et al. Giant axonal neuropathy with subclinical involvement of the central nervous system: case report. J Neurol Sci, 1998, 158: 232-235.
  • 4Brockmann K, Pouwels PJ, Dechent P, et al. Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. Brain Dev, 2003, 25: 45-50.
  • 5Mohri I, Taniike M, Yoshikawa H, et al. A ease of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments. Brain Dev, 1998, 20: 594-597.
  • 6Donaghy M, King RH, Thomas PK, et al. Abnormalities of the axonal cytoskeleton in giant axonal neuropathy. J Neurocytol, 1988, 17: 197-208.
  • 7Tazir M, Vallat JM, Bomont P, et al. Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. Neuromuscul Disord, 2002, 12: 849-852.
  • 8Koop O, Sehimaeher A, Nelis E, et al. Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). Neuromuscul Disord, 2007, 17: 624-630.
  • 9Schochet SS Jr, Chesson AL Jr. Giant axonal neuropathy: possibly secondary to vitamin b12 malabsorption. Acta Neuropathol, 1977, 40 : 79-83.
  • 10Davenport JG, Farrell DF, Sumi M. "Giant axonal neuropathy" caused by industrial chemicals: neurofilamentous axonal masses in man. Neurology, 1976, 26: 919-923.

同被引文献19

  • 1Ben Hamida C, Cavalier L, Belal S, et al. Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24. 1 [ J]. Neurogertetics, 1997 ,1 (2) :129 - 133.
  • 2Bomont P, Cavalier L, Blondeau F, et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy [ J ]. Nat Genet,2000,26 ( 3 ) : 370 - 374.
  • 3Asbury AK, Gale MK, Cox SC, et al. Giant axonal neuropathy - a unique case with segmental neurofilamentous masses [ J ]. Acta Neuropathol, 1972,20 ( 3 ) :237 - 247.
  • 4Demir E, Bomont P, Erdem S, et al. Giant axonal neuropathy: Clinical and genetic study in six cases[ J]. J Neurol Neurosurg Psychiatry,2005, 76(6) :825 -832.
  • 5Nalini A, Gayathri N, Yasha TC, et al. Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy(GAN) :Report from India[ J ]. Eur J Med Genet ,2008,51 ( 5 ) :426 - 435.
  • 6Sabatelli M, Bertini E, Servidei S, et al. Giant axonal neuropathy : Report on a case with focal fiber loss [ J ]. Aeta Neuropathol, 1992,83 ( 5 ) : 543 - 546.
  • 7Thomas C, Love S, Powell HC, et al. Giant axonal neuropathy : Correlation of clinical findings with postmortem neuropathology [ J ]. Ann Neurol, 1987,22 ( 1 ) :79 - 84.
  • 8Guazzi GC, Malandrini A, Gerli R, et al. Giant axonal neuropathy in 2 siblings:A generalized disorder of intermediate filaments [ J ]. Eur Neuroi,1991,31(1) :50 -56.
  • 9Ouvrier RA. Giant axonal neuropathy. A review [ J]. Brain, 1989, 11 (4) :207 -214.
  • 10Tazir M, Nouioua S, Magy L, et al. Phenotypic variability in giant axonal neuropathy [ J ]. Neuromusc Disord,2009,19 (4) :270 - 274.

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中华神经科杂志
2008年 第7期

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