The emerging fragile X premutation phenotype: Evidence from the domain of social cognition
The emerging fragile X premutation phenotype: Evidence from the domain of social cognition
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DOI：
10.1016/j.bandc.2004.08.020
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发表时间：
2005-02-01
影响因子：
2.5
通讯作者：
Dalton, A
中科院分区：
文献类型：
--
作者：
Cornish, K;Kogan, C;Dalton, A
脆性X综合征是一种神经发育障碍，由FMR 1基因上游CGG重复序列（>200）区域的大量甲基化扩增引起，导致脆性X智力低下蛋白（FMRP）表达缺失。受影响的个体表现出神经行为表型，包括社会认知的显著损伤以及注意力控制、抑制和工作记忆的缺陷。相比之下，对于与脆性X前突变（“携带者状态”）（大约55-200次重复）相关的任何认知障碍的轨迹和特异性知之甚少。在这里，我们专注于认知的一个方面，这在脆性X完全突变中得到了很好的证明，即社会认知。结果表明，突变前的男性显示模式的赤字类似的配置文件，虽然温和的介绍，以充分的突变。然而，几乎没有证据表明CGG重复序列长度和表型结果的严重程度之间存在相关性。研究结果进行了讨论的背景下，功能性神经影像学和脑行为分子相关。我们推测，社会认知的缺陷是由于小脑调节的神经通路受损。(C)2004 Elsevire Inc. All rights reserved.
Fragile X syndrome is a neurodevelopmental disorder that is caused by large methylated expansions of a CGG repeat (>200) region upstream of the FMR1 gene that results in the lack of expression of the fragile X mental retardation protein (FMRP). Affected individuals display a neurobehavioral phenotype that includes a significant impairment in social cognition alongside deficits in attentional control, inhibition and working memory. In contrast, relatively little is known about the trajectory and specificity of any cognitive impairment associated with the fragile X premutation ("carrier-status") (approximately 55-200 repeats). Here, we focus on one aspect of cognition that has been well documented in the fragile X full mutation, namely social cognition. The results suggest that premutation males display a pattern of deficit similar in profile, albeit milder in presentation, to that of the full mutation. However, little evidence emerged for a correlation between CGG repeat length and severity of phenotypic outcomes. The findings are discussed in the context of functional neuroimaging and brain-behaviour-molecular correlates. We speculate that the deficiencies in social cognition are attributable to impairment of neural pathways modulated by the cerebellum. (C) 2004 Elsevire Inc. All rights reserved.