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多系统萎缩的遗传学研究进展

Advance in genetic research on multiple system atrophy
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摘要 多系统萎缩（multiple system atrophy,MSA）是一种进行性神经系统退行性疾病.少突胶质细胞内包涵体是此病的特征性病理学标志物.长期以来,MSA被认为是散发性疾病,但近年来国内外报道了少数MSA家系,且研究发现其候选基因的某些变异可增加MSA的发病风险,这些表明遗传因素在MSA的发病机制中起着非常重要的作用. Multiple system atrophy （MSA） is a progressive neurodegenerative disorder.Widespread presence of glial cytoplasmic inclusions is the neuropathologic hallmark of MSA.The disease has long been considered as a sporadic disorder.However,in recent years,a few familial cases of MSA have been reported,and researches have verified certain genetic variants could increase the risk of MSA.These indicated genetic factors may play an imported role in the pathogenesis of MSA.In this review,the emerging evidence in favor of genetic players in MSA is discussed.
作者 侯漩 江泓
机构地区 中南大学湘雅医院神经内科
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2015年第3期418-421,共4页 Chinese Journal of Medical Genetics
基金 国家“973”计划子课题（2012CB944600,2012CB517902,2011CB510002）,国家自然科学基金（81273260,81471156）
关键词 多系统萎缩 临床特点 家系 风险基因 基因拷贝数变异 Multiple system atrophy Clinical features Families Risk gene Copy number variations
分类号 R742 [医药卫生—神经病学与精神病学]
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参考文献70

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中华医学遗传学杂志
2015年 第3期

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