Wallentin Mikkel, Skakkebæk Anne, Bojesen Anders, Fedder Jens, Laurberg Peter, Østergaard John R, Hertz Jens Michael, Pedersen Anders Degn, Gravholt Claus Højbjerg
Center of Functionally Integrative Neuroscience, Aarhus University Hospital, building 10-G-5, Nørrebrogade, 8000 Aarhus C, Denmark; Center for Semiotics, Aarhus University, Denmark.
Department of Endocrinology and Internal Medicine (MEA), Aarhus University Hospital, 8000 Aarhus C, Denmark; Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus N, Denmark.
Neuroimage Clin. 2016 Feb 11;11:239-251. doi: 10.1016/j.nicl.2016.02.002. eCollection 2016.
Klinefelter syndrome (47, XXY) (KS) is a genetic syndrome characterized by the presence of an extra X chromosome and low level of testosterone, resulting in a number of neurocognitive abnormalities, yet little is known about brain function. This study investigated the fMRI-BOLD response from KS relative to a group of Controls to basic motor, perceptual, executive and adaptation tasks. Participants (N: KS = 49; Controls = 49) responded to whether the words "GREEN" or "RED" were displayed in green or red (incongruent versus congruent colors). One of the colors was presented three times as often as the other, making it possible to study both congruency and adaptation effects independently. Auditory stimuli saying "GREEN" or "RED" had the same distribution, making it possible to study effects of perceptual modality as well as Frequency effects across modalities. We found that KS had an increased response to motor output in primary motor cortex and an increased response to auditory stimuli in auditory cortices, but no difference in primary visual cortices. KS displayed a diminished response to written visual stimuli in secondary visual regions near the Visual Word Form Area, consistent with the widespread dyslexia in the group. No neural differences were found in inhibitory control (Stroop) or in adaptation to differences in stimulus frequencies. Across groups we found a strong positive correlation between age and BOLD response in the brain's motor network with no difference between groups. No effects of testosterone level or brain volume were found. In sum, the present findings suggest that auditory and motor systems in KS are selectively affected, perhaps as a compensatory strategy, and that this is not a systemic effect as it is not seen in the visual system.
克兰费尔特综合征（47, XXY）（KS）是一种基因综合征，其特征是存在一条额外的X染色体且睾酮水平较低，会导致一些神经认知异常，但人们对其脑功能却知之甚少。本研究调查了KS患者相对于一组对照组在基本运动、感知、执行和适应任务中的功能磁共振成像血氧水平依赖（fMRI-BOLD）反应。参与者（数量：KS组 = 49；对照组 = 49）对“绿色”或“红色”字样是以绿色还是红色显示（颜色不一致与一致）做出反应。其中一种颜色出现的频率是另一种的三倍，这使得能够独立研究一致性和适应效应。说“绿色”或“红色”的听觉刺激具有相同的分布，这使得能够研究感知模态的效应以及跨模态的频率效应。我们发现，KS患者在初级运动皮层对运动输出的反应增强，在听觉皮层对听觉刺激的反应增强，但在初级视觉皮层没有差异。KS患者在视觉词形区附近的二级视觉区域对书面视觉刺激的反应减弱，这与该组中普遍存在的诵读困难一致。在抑制控制（斯特鲁普任务）或对刺激频率差异的适应方面未发现神经差异。在两组中，我们发现年龄与大脑运动网络中的BOLD反应之间存在强正相关，两组之间没有差异。未发现睾酮水平或脑容量的影响。总之，目前的研究结果表明，KS患者的听觉和运动系统受到选择性影响，这可能是一种补偿策略，而且这不是一种全身性效应，因为在视觉系统中未观察到这种效应。
