Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies.

Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies.
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脆弱X综合征中的基因,大脑和行为关系:来自神经影像研究的证据。

DOI:
10.1002/ddrr.77
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发表时间:
2009
影响因子:
--
通讯作者:
Reiss, Allan L.
Reiss, Allan L.
中科院分区:
其他
文献类型:
--
作者:
Lightbody, Amy A.;Reiss, Allan L.

文献摘要

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脆性 X 综合征 (FraX) 仍然是智力障碍最常见的遗传原因,为研究基因-大脑-行为关系提供了一个有价值的模型。在过去的 15 年里,结构和功能磁共振成像研究不断涌现,其目的是更好地了解 FraX 患者认知和行为结果的神经通路。具体来说,结构 MRI 研究已经建立并开始完善与 FraX 相关的神经解剖变异的特定地形。此外,功能性神经影像学研究已开始阐明 FraX 许多独特特征的神经基础,包括凝视困难、执行功能和行为抑制。这篇综述重点介绍了在 FraX 中观察到的相关基因-大脑-行为联系的研究。讨论了大脑区域和激活模式与 FMRP 的关系,以及这些神经影像学发现的临床认知和行为相关性。
Fragile X syndrome (FraX) remains the most common inherited cause of intellectual disability and provides a valuable model for studying gene-brain-behavior relationships. Over the past 15 years, structural and functional magnetic resonance imaging studies have emerged with the goal of better understanding the neural pathways contributing to the cognitive and behavioral outcomes seen in individuals with FraX. Specifically, structural MRI studies have established and begun to refine the specific topography of neuroanatomical variation associated with FraX. In addition, functional neuroimaging studies have begun to elucidate the neural underpinnings of many of the unique characteristics of FraX including difficulties with eye gaze, executive functioning, and behavioral inhibition. This review highlights studies with a focus on the relevant gene-brain-behavior connections observed in FraX. The relationship of brain regions and activation patterns to FMRP are discussed as well as the clinical cognitive and behavioral correlates of these neuroimaging findings.
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