Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.
Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.
复制标题
胼胝体发育不全和先天性镜像运动：与 DCC 突变相关的结果。
DOI：
10.1111/dmcn.14486
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发表时间：
2020
影响因子：
3.8
通讯作者：
Robinson,GailA
中科院分区：
文献类型：
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作者：
Spencer-Smith,Megan;Knight,JacquelynL;Lacaze,Emmanuelle;Irc5Consortium;Depienne,Christel;Lockhart,PaulJ;Richards,LindaJ;Heron,Delphine;Leventer,RichardJ;Robinson,GailA
大肠癌（DCC）编码基因缺失的致病性变异是导致胼胝体（ACC）发育不全的第一个遗传原因。在这里，我们提出了详细的神经，脑磁共振成像（MRI），和神经心理学特征的12个人，来自三个家庭的致病变异的DCC（8- 50岁），谁表现出ACC和镜像运动（n=5），只有镜像运动（n=2），只有ACC（n=3），或既没有ACC也没有镜像运动（n=2）。脑MRI的神经学和神经影像学特征存在异质性，神经心理学领域的表现范围从极低（受损）到正常范围（平均值）。我们的研究结果表明，ACC和/或镜像运动与低功能在选择的神经心理领域和一个DCC致病变异单独是不足以解释disability.What本文addsNeuropsychological损害的严重程度是相关的镜像运动和/或发育不全的胼胝体的存在。ADCC致病变异在隔离与最佳预后。
Pathogenic variants in the gene encoding deleted in colorectal cancer (DCC) are the first genetic cause of isolated agenesis of the corpus callosum (ACC). Here we present the detailed neurological, brain magnetic resonance imaging (MRI), and neuropsychological characteristics of 12 individuals from three families with pathogenic variants inDCC(aged 8–50y), who showed ACC and mirror movements (n=5), mirror movements only (n=2), ACC only (n=3), or neither ACC nor mirror movements (n=2). There was heterogeneity in the neurological and neuroimaging features on brain MRI, and performance across neuropsychological domains ranged from extremely low (impaired) to within normal limits (average). Our findings show that ACC and/or mirror movements are associated with low functioning in select neuropsychological domains and aDCCpathogenic variant alone is not sufficient to explain the disability.What this paper addsNeuropsychological impairment severity is related to presence of mirror movements and/or agenesis of the corpus callosum.ADCCpathogenic variant in isolation is associated with the best prognosis.