Turner Institute for Brain and Mental Health and School of Psychological Sciences, Monash University, Melbourne, Victoria, Australia.
Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Dev Med Child Neurol. 2020 Jun;62(6):758-762. doi: 10.1111/dmcn.14486. Epub 2020 Feb 14.
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 in DCC (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 a DCC pathogenic variant alone is not sufficient to explain the disability. WHAT THIS PAPER ADDS: Neuropsychological impairment severity is related to presence of mirror movements and/or agenesis of the corpus callosum. A DCC pathogenic variant in isolation is associated with the best prognosis.
DCC 基因编码缺失的结直肠癌（DCC）中的致病性变异是孤立性胼胝体发育不全（ACC）的第一个遗传原因。在这里，我们介绍了来自三个具有 DCC 致病性变异的家庭的 12 个人的详细神经学、脑磁共振成像（MRI）和神经心理学特征（年龄 8-50 岁），他们表现出 ACC 和镜像运动（n=5）、仅镜像运动（n=2）、仅 ACC（n=3）或既无 ACC 也无镜像运动（n=2）。脑 MRI 上的神经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）到正常范围内（平均）。我们的研究结果表明，ACC 和/或镜像运动与特定神经心理学领域的低功能相关，并且单独的 DCC 致病性变异不足以解释残疾。本文增加的内容：神经心理学损伤严重程度与镜像运动和/或胼胝体发育不全有关。单独的 DCC 致病性变异与最佳预后相关。
