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脊髓性肌萎缩症诊治进展 被引量：2

Spinal muscular atrophy： a literature review of diagnosis and therapeutic strategies
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摘要 脊髓性肌萎缩症（spinalmuscularatrophy，SMA）属常染色体隐性遗传神经退行性病变，是由SMNl基因的纯和缺失或突变所致．SMNI基因存在于染色体5q11-5q13区。SMA疾病仅次于囊泡纤维症居于第二位的遗传性致死性疾病，婴儿发病率为1：6000到1：10000之间，每40-60人中有1位杂合子携带者。本文针对目前SMA的治疗作一综述，以为SMA的研究提供帮助。
作者 周凤敏 邹丽萍 宋昉 刘哲伟
机构地区 首都儿科研究所分子免疫科室 解放军总医院儿童医学中心
出处 《中华神经医学杂志》 CAS CSCD 北大核心 2012年第3期320-322,共3页 Chinese Journal of Neuromedicine
关键词 神经肌肉萎缩 SMN基因 治疗药物 突变 Neuromuscular disorders SMN gene Therapeutically drugs Mutations
分类号 R746.4 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献28

  • 1Acsadi G, Li X, Murphy K J, et al. Alpha-synuclein loss in spinal muscular atrophy[J]. J Mol Neurosci, 2011, 43(3): 275-283.
  • 2Heier CR, Gogliotti RG, DiDonato CJ. SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy?[J]. J Child Neurol, 2007, 22 (8): 1013-1018.
  • 3Meldrum C, Scott C, Swoboda KJ. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspestives[J]. J Child Neurol, 2007, 22(8): 1019-1026.
  • 4Oskoui M, Kaufmann P. Spinal muscular atrophy [J]. Neurotherapeutics, 2008, 5(4): 499-506.
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  • 7Grondard C, Biondi O, Armand AS, et al. Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse [J]. J Neurosci, 2005, 25(33): 7615-7622.
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二级参考文献11

  • 1丁华新,杨晓苏,肖波,吴志国,张丽芳.脊髓性肌萎缩症SMN基因拷贝数定量分析[J].中华医学遗传学杂志,2004,21(2):153-155. 被引量：8
  • 2王旭,邹丽萍,方方,肖静,丁昌红,宋昉.运动神经元存活基因与儿童期脊肌萎缩症临床特征研究[J].临床儿科杂志,2005,23(5):275-277. 被引量：6
  • 3陈万金,吴志英,王柠,林珉婷,慕容慎行.脊髓性肌萎缩症运动神经元生存基因2拷贝数与临床表型的关系[J].中华神经科杂志,2005,38(11):673-676. 被引量：11
  • 4卢丽萍,麻宏伟,姜俊,王涛,胡斌.脊髓性肌萎缩临床表型与SMN2基因拷贝数变化的相关性研究[J].中华医学遗传学杂志,2007,24(2):144-147. 被引量：11
  • 5Writh B, Brichta L, Hahnen E. Spinal muscular atrophy : from gene to therapy [ J ] . Semin Pediatr Neurol, 2006, 13 ( 2 ) : 121-131.
  • 6Rowland LP, Mcleod JG. Classification of neuromuscular disorders [ J ] . J Neurol Sci, 1994, 124 suppl : 109-130.
  • 7Lindholm D, Mercer EA, Yu LY, et al. Neuronal apoptosis inhibitory protein : Structural requirements for hippocalcin binding and effects on survival of NGF-dependent sympathetic neurons [ J ] . Biochim Biophys Acta, 2002, 1600 ( 1-2 ) : 138-147.
  • 8Swoboda K J, Kissel JT, Crawford TO, et al. Perspectives on clinical trials in spinal muscular atrophy [ J ] . J Child Neurol, 2007, 22 (8) : 957-966.
  • 9Jablonka S, Karle K, Sandner B, et al. Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy [ J ] . Hum Mol Genet, 2006, 15 ( 3 ) : 511-518.
  • 10Claus P, Doring F, Gringel 5, el al. Differential intranuclear localization of fibroblast growth factor-2 isoforms and specific interaction with the survival of motoneuron protein [ J ] . J Biol Chem, 2003, 278 ( 1 ) : 479-485.

共引文献2

同被引文献27

  • 1Meldrum C, Scott C, Swoboda KJ. Spinal muscular atro- phy genetic counseling access and genetic knowledge: par ents'perspestiveseJ. J Child Neurol, 2007,22 (8) : 1019 1026.
  • 2Aesadi G, Li X, Murphy K J, et al. Alpha-synuclein loss in spinal muscular atrophy[J]. J Mol Neurosci, 2011,43 (3) : 275-283.
  • 3Alias L,Bernal S, Fuentes Prior P, et al. Mutation update of spinal muscular atrophy in Spain: molecular character- ization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene[J]. Hum Genet,2009, 125(1) :29-39.
  • 4Zhang Y,Huang JJ,Wang ZQ,et al. Value of muscle en- zyme measurement in evalualing different neuromuscular diseases[J]. Clin Chim Acta,2012,413(3/4) :520-524.
  • 5Brahe C, Servidei S, Zappata S, et al. Genetic homogeneity be tween childhood-onset and adult-onset autosomal recessive spinal muscular atrophy[J]. Lancet, 1995,346 (8977) : 741- 742.
  • 6Zerres K, Rudnik SS, Forker R, et al. Genetic basis of a- dult-onset spinal muscular atrophy[J]. Lancet, 1995,346 (8983) :1162.
  • 7Martin Y, Valero A, del Castillo E, et al. Genetic study of SMA patients without homozygous SMN1 deletions:iden- tification of compound heterozygotes and characterization of novel intragenic SMN1 mutation [J]. Hum Genet,2002,110(3):257-263.
  • 8Oskoui M,Kaufmann P. Spinal muscular atrophy[J]. Neuro- therapeutics, 2008,5 (4) : 499-506.
  • 9Mereuri E,Bertini E,Messina S,et al. Pilot trial of pheny- lbutyrate in spinal muscular atrophy [J]. Neuromuscul Disord,2004,14(2) :130- 135.
  • 10Kathryn JS,Charles BS,Sandra PR, et al. Phase II open label study of valproic acid in spinal muscular atrophy [J]. PLoS ONE, 2009,4 (5) : e5268.

引证文献2

二级引证文献12

中华神经医学杂志
2012年 第3期

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