Department of Neuroradiology, University of Heidelberg Medical School, Heidelberg, Germany.
PLoS One. 2010 Aug 23;5(8):e12326. doi: 10.1371/journal.pone.0012326.
Individuals with the rare genetic disorder Williams-Beuren syndrome (WS) are known for their characteristic auditory phenotype including strong affinity to music and sounds. In this work we attempted to pinpoint a neural substrate for the characteristic musicality in WS individuals by studying the structure-function relationship of their auditory cortex. Since WS subjects had only minor musical training due to psychomotor constraints we hypothesized that any changes compared to the control group would reflect the contribution of genetic factors to auditory processing and musicality.
METHODOLOGY/PRINCIPAL FINDINGS: Using psychoacoustics, magnetoencephalography and magnetic resonance imaging, we show that WS individuals exhibit extreme and almost exclusive holistic sound perception, which stands in marked contrast to the even distribution of this trait in the general population. Functionally, this was reflected by increased amplitudes of left auditory evoked fields. On the structural level, volume of the left auditory cortex was 2.2-fold increased in WS subjects as compared to control subjects. Equivalent volumes of the auditory cortex have been previously reported for professional musicians.
CONCLUSIONS/SIGNIFICANCE: There has been an ongoing debate in the neuroscience community as to whether increased gray matter of the auditory cortex in musicians is attributable to the amount of training or innate disposition. In this study musical education of WS subjects was negligible and control subjects were carefully matched for this parameter. Therefore our results not only unravel the neural substrate for this particular auditory phenotype, but in addition propose WS as a unique genetic model for training-independent auditory system properties.
患有罕见的威廉姆斯-贝伦综合征（WS）的个体以其特征性的听觉表型而闻名，包括对音乐和声音的强烈亲和力。在这项工作中，我们试图通过研究他们的听觉皮层的结构-功能关系，来确定 WS 个体特征性音乐性的神经基础。由于 WS 受试者由于精神运动限制只有很少的音乐训练，我们假设与对照组相比的任何变化都将反映遗传因素对听觉处理和音乐性的贡献。
方法/主要发现：使用心理声学、脑磁图和磁共振成像，我们表明 WS 个体表现出极端的、几乎完全整体的声音感知，这与该特征在普通人群中的均匀分布形成鲜明对比。功能上，这反映在左听觉诱发场的振幅增加。在结构水平上，WS 受试者的左听觉皮层体积是对照组的 2.2 倍。以前曾报道过职业音乐家的听觉皮层具有相同的体积。
结论/意义：在神经科学界一直存在争议，即音乐家听觉皮层的灰质增加是归因于训练量还是内在倾向。在这项研究中，WS 受试者的音乐教育可以忽略不计，并且对照组在这一参数上进行了仔细匹配。因此，我们的结果不仅揭示了这种特殊听觉表型的神经基础，而且还提出 WS 是一种独特的遗传模型，用于研究训练独立的听觉系统特性。
