Meyer-Lindenberg Andreas, Mervis Carolyn B, Berman Karen Faith
Unit for Systems Neuroscience in Psychiatry, National Institute of Mental Health, NIH, DHHS, 9000 Rockville Pike, Bethesda, Maryland 20892-1365, USA.
Nat Rev Neurosci. 2006 May;7(5):380-93. doi: 10.1038/nrn1906.
Williams syndrome, a rare disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, has long intrigued neuroscientists with its unique combination of striking behavioural abnormalities, such as hypersociability, and characteristic neurocognitive profile. Williams syndrome, therefore, raises fundamental questions about the neural mechanisms of social behaviour, the modularity of mind and brain development, and provides a privileged setting to understand genetic influences on complex brain functions in a 'bottom-up' way. We review recent advances in uncovering the functional and structural neural substrates of Williams syndrome that provide an emerging understanding of how these are related to dissociable genetic contributions characterized both in special participant populations and animal models.
威廉姆斯综合征是一种由7号染色体长臂11.23区域约28个基因的半合子微缺失引起的罕见疾病，长期以来一直吸引着神经科学家，因为它具有独特的行为异常组合，如过度社交性，以及特征性的神经认知特征。因此，威廉姆斯综合征引发了关于社会行为的神经机制、心智和大脑发育的模块性等基本问题，并提供了一个特殊的环境，以“自下而上”的方式理解基因对复杂脑功能的影响。我们回顾了在揭示威廉姆斯综合征功能和结构神经基础方面的最新进展，这些进展使我们对其与特殊参与者群体和动物模型中可分离的基因贡献之间的关系有了新的认识。
