call体发育不全是先天性异常,call体无法正常发育,并与一系列神经心理学结果有关。在一些患有call体发育不全的个体中的一个具体发现是“先天性镜像运动障碍”,这是身体一侧的非自愿运动的存在,模仿另一侧的自愿运动。镜像运动也与结肠直肠癌(DCC)基因缺失的突变有关。当前的研究旨在全面记录一个家庭(母亲,女儿和儿子)具有已知的DCC突变。所有三个家庭成员都经历镜子运动,并且儿子还具有call体部分发育不良(pACC)。所有家庭成员都接受了广泛的神经心理学测试,跨越一般的智力功能,记忆,语言,识字,算术,精神运动速度,视觉空间感知,实践和电机功能,执行功能,注意,口头/非口头流畅性,和社会认知。母亲和女儿对面孔的记忆受损,减少了自发的言语,女儿表现出分散的注意力和执行功能受损,但是他们的神经心理能力基本上在正常范围内。相比之下,儿子在多个领域表现出明显的障碍,包括精神运动速度降低,精细的运动灵活性和一般的智力功能,他在执行功能和注意力方面受到了严重的损害。他的口头/非口头流畅性降低,具有相对完整的核心语言,类似于动态额叶失语症。他的相对优势包括记忆方面,他在很大程度上展示了健全的心理理论。神经成像显示儿子体内有不对称的乙状结肠束,连接,通过call骨残留物,左额叶皮层与对侧顶枕叶皮层。总的来说,这项研究记录了一个具有DCC突变和镜像运动的家庭中的一系列神经心理学和神经解剖学结果,包括一个有更严重的后果和pACC。
Corpus callosum dysgenesis is a congenital abnormality whereby the corpus callosum fails to develop normally, and has been associated with a range of neuropsychological outcomes. One specific finding in some individuals with corpus callosum dysgenesis is \"congenital mirror movement disorder\", which is the presence of involuntary movements on one side of the body that mimic voluntary movements of the other side. Mirror movements have also been associated with mutations in the deleted in colorectal carcinoma (DCC) gene. The current study aims to comprehensively document the neuropsychological outcomes and neuroanatomical mapping of a family (a mother, daughter and son) with known DCC mutations. All three family members experience mirror movements, and the son additionally has partial agenesis of the corpus callosum (pACC). All family members underwent extensive neuropsychological testing, spanning general intellectual functioning, memory, language, literacy, numeracy, psychomotor speed, visuospatial perception, praxis and motor functioning, executive functioning, attention, verbal/nonverbal fluency, and social cognition. The mother and daughter had impaired memory for faces, and reduced spontaneous speech, and the daughter demonstrated scattered impairments in attention and executive functioning, but their neuropsychological abilities were largely within normal limits. By contrast, the son showed areas of significant impairment across multiple domains including reduced psychomotor speed, fine motor dexterity and general intellectual functioning, and he was profoundly impaired across areas of executive functioning and attention. Reductions in his verbal/non-verbal fluency, with relatively intact core language, resembled dynamic frontal aphasia. His relative strengths included aspects of memory and he demonstrated largely sound theory of mind. Neuroimaging revealed an asymmetric sigmoid bundle in the son, connecting, via the callosal remnant, the left frontal cortex with contralateral parieto-occipital cortex. Overall, this study documents a range of neuropsychological and neuroanatomical outcomes within one family with DCC mutations and mirror movements, including one with more severe consequences and pACC.