| AAA ATP酶与遗传性痉挛性截瘫 |
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| 引用本文： | 王银光,沈璐. AAA ATP酶与遗传性痉挛性截瘫[J]. 中华医学遗传学杂志, 2009, 26(1): 298-301. DOI: 10.3760/cma.j.issn.1003-9406.2009.03.013 |
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| 作者姓名： | 王银光 沈璐 |
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| 作者单位： | 中南大学湘雅医院神经内科,长沙,410008; |
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| 摘 要： | 遗传性痉挛性截瘫是一种具有高度临床和遗传异质性的神经系统变性性疾病.现已定位35型,17型致病基因已被克隆.其中呈显性遗传的第4型和呈隐性遗传的第7型是较常见的亚型.它们的致病基因分别编码蛋白spastin与paraplegin,二者同属于AAA ATP酶家族.现对研究较多的这两型进行综述,并借此反映该病近年来的研究进展.
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| 关 键 词： | 遗传性痉挛性截瘫 AAA ATP酶 spastin基因 paraplegin基因 |
AAA ATPases and hereditary spastic paraplegia |
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| WANG Yin-guang,SHEN Lu. AAA ATPases and hereditary spastic paraplegia[J]. Chinese journal of medical genetics, 2009, 26(1): 298-301. DOI: 10.3760/cma.j.issn.1003-9406.2009.03.013 |
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| Authors: | WANG Yin-guang SHEN Lu |
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| Abstract: | The hereditary spastic paraplegias (HSPs or SPGs) are clinically and genetically highly heterogeneous neurodegenerative disorders mainly characterized by progressive spasticity and weakness in the lower limbs. The inheritance mode includes autosomal dominant(AD-HSP), autosomal recessive(AR-HSP) and X-linked recessive(XR-HSP). Thirty-five loci have been mapped with 17 disease-associated genes identified. SPG4 and SPG7 are the common subtypes in the AD-HSP and AR-HSP, respectively. Author briefly review the function of spastin (SPG4) and paraplegin (SPGT), both of which belong to AAA ATPases family, and the recent progress of the study on the pathogenesis of HSPs. |
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| Keywords: | hereditary spastic paraplegiaAAA ATPasesspastin geneparaplegin gene |
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