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X-连锁显性腓骨肌萎缩症的发病机制研究进展

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摘要 腓骨肌萎缩症（Charcot—Marie-Tooth disease，CMT）是最常见的遗传性周围神经病，患病率1／2500，其中由间隙连接蛋白Connexin32（Cx32）基因突变引起的x_连锁显性腓骨肌萎缩症（X-linked dominant Charcot-Marie-Toothdisease）又称CMTXI是第二常见的类型，占整个CMT的4．1％～9．8％。
作者 王炜 笪宇威
机构地区 首都医科大学宣武医院神经内科
出处 《卒中与神经疾病》 2012年第6期377-379,共3页 Stroke and Nervous Diseases
基金 国家自然基金资助项目(81071000)
关键词 腓骨肌萎缩症 X-连锁 发病机制 显性 遗传性周围神经病 间隙连接蛋白 患病率 CMT
分类号 R746.4 [医药卫生—神经病学与精神病学]
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参考文献27

  • 1Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. Eur J Hum Genet, 2009,17(6): 703-710.
  • 2Braathen GJ, Sand JC, Lobato A, et al. Genetic epidemiology of Charcot Marie-Tooth in the general population. Eur J Neurol, 2011,18(1):39-48.
  • 3Sargiannidou I, Vavlitou N, Aristodemou S, et al. Connexin32 mutations cause loss of function in Schwann cells and oligoden-drocytes leading to PNS and CNS myelination defects. J Neurosci,2009,29(15) :4736-4749.
  • 4Bergoffen J, Scherer SS,Wang S, et al. Connexin mutations in X linked Charcot-Marie-Tooth disease. Science, 1993,262 ( 5142 ) : 2039-2042.
  • 5Hahn AF, Bolton CF,White CM, et al. Genotype/phenotype correlations in X-linked dominant Charcot-Maric-Tooth disease. Ann NY Acad Sei,1999,883:366-382.
  • 6Shy ME, Siskind C, Swan ER, et al. CMT1X phenotypes repre sent loss of GJB1 gene function. Neurology, 2007, 68 ( 11 ) : 849- 855.
  • 7Kabziflska D, Kotruchow K, Ryniewicz B, et al. Two pathogenic mutations located within the 5' regulatory sequence of the GJBI gene affecting initiation of transcription and translation. Acta Biochim Pol, 2011,58 (3) : 359-363.
  • 8VanSlyke JK, Naus CC, Musil LS. Conformational maturation and post-ER muhisubunit assembly of gap junction proteins. Mol Biol Cell, 2009,20 (9) : 2451-2463.
  • 9Ahn M, Lee J, Gustafsson A, et al. Cx29 and Cx32, two connexins expressed by myelinating glia,do not interact and are functionally distinct. J Neurosci Res,2008,86(5): 992-1006.
  • 10Del Castillo FJ,Cohen Salmon M, Charollais A, et al. Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of eonnexins. Hum Mol Genet, 2010, 19 (2) : 262-275.

二级参考文献10

  • 1Schmid CD,Stienekemeier M,Oehen S,et al.Immune deficiency in mouse models for inherited peripheral neuropathies leads to improved myelin maintenance[J].J Neurosci,2000,20:729-735.
  • 2Carenini S,Mathias M,Werner A,et al.The role of Macrophages in demyelinating peripheral nervous system of mice heterozygously deficient in P0[J].J Cell Biol,2001,152:301-308.
  • 3Kobsar I,Maurer M,Ott T,et al.Macrophagedrelated demyelination in peripheral nerves of mice deficient in the gap junction protein connexin32[J].Neurosci Lett,2002,320:17-20.
  • 4Vital A,Vital C,Lagueney A,et al.Inflammatory dymyelinnation in a patient with CMT1A[J].Muscle Nerve,2003,28:373-376.
  • 5Gabriel CM,Gregson NA,Wood NW,et al.Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a)[J].J Neurol Neurosurg Psychiat,2002,72:230-235.
  • 6Stoll G,Gabreels-festen AAWM,Jander S,et al.Major histocompatibility complex class Ⅱ expression and macrophage responses in genetically proven Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies[J].Muscle Nerve,1998,21:1419-1427.
  • 7Gabriel CM,Gregson NA,Hughes RAC.AntiPMP22 antibodies in patients with inflammatory neuropathy[J].J Neuroimmunol,2000,104:139-146.
  • 8Gabriel JM,Erne B,Pareyson D,et al.Gene dosage effects in hereditary peripheral neuropathy[J].Neurology,1997,49:1635-1640.
  • 9Gabriel CM,Hughes RAC,Moore SE,et al.Induction of experimental autoimmune neuritis with peripheral myelin protein-22[J].Brain,1998,121:1895-1902.
  • 10Ritz MF,Lechner-Scott J,Scott RJ,et al.Characterisation of autoantibodies to peripheral myelin protein 22 in patients with hereditary and acquired neuropathies[J].J Neuroimmunol,2000,104:155-163.

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卒中与神经疾病
2012年 第6期

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