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AAA ATP酶与遗传性痉挛性截瘫
  • 期刊名称:中华医学遗传学杂志.
  • 时间:0
  • 页码:298-301
  • 语言:中文
  • 分类:R741[医药卫生—神经病学与精神病学;医药卫生—临床医学]
  • 作者机构:[1]中南大学湘雅医院神经内科,长沙410008
  • 相关基金:国家“十五”科技攻关计划课题资助项目(2004BA720A03); 国家“十一五”支撑重大项目(2006BA105A07); 国家自然科学基金资助项目(30671151); 湖南省杰出青年基金资助项目(2007JJ1005)
  • 相关项目:新的常染色体显性遗传痉挛性截瘫致病基因的克隆
作者: 王银光|沈璐|
中文摘要:

目的探讨胼胝体发育不良(AgCC)的临床和MRI表现。方法将患者分为3组:(1)原发性单纯性AgCC组;(2)原发性AgCC合并其他脑发育畸形组;(3)继发性AgCC组,分析其临床及MRI表现。结果胼胝体变薄是最常见的畸形,原发性AgCC合并其他脑发育畸形组更易有胼胝体完全缺如、脑室扩大、生长发育迟缓、智力低下。结论原发性AgCC合并其他脑发育畸形组的临床表现较原发性单纯性AgCC组重。

英文摘要:

Objective To assess their clinical and brain MRI manifestation.Methods The 116 patients with agenesis or dysgenisis of corpus callosum(AgCC) were classified in one of the following four groups based on the additional malformations in the central nervous system,or AgCC associated with other clinical events:(1) primary AgCC without substantial involvement of other systems;(2) primary AgCC associated with other malformations in the central nervous systems;(3) acquired AgCC caused by other clinical events.Results We find thin corpus callosum is the most common type of AgCC;primary AgCC associated with other malformations in the central nervous systems are commonly associated with ventricle dilation and presented with development delay and intelligence disability.Conclusions We suppose patients with other central nervous system malformations showed severer clinical manifestation than primary isolate AgCC.

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