Osório Ana, Soares José Miguel, Prieto Montse Fernández, Vasconcelos Cristiana, Fernandes Catarina, Sousa Sónia, Carracedo Angel, Gonçalves Oscar F, Sampaio Adriana
Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Campus Gualtar, 4710-057 Braga, Portugal.
Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Minho, Portugal; ICVS/3B's-PT Government Associated Laboratory, Guimarães, Braga, Portugal; Clinical Academic Center, Braga, Portugal.
Res Dev Disabil. 2014 Apr;35(4):922-8. doi: 10.1016/j.ridd.2013.12.014. Epub 2014 Feb 14.
Individuals with Williams syndrome (WS) present a set of cognitive, affective and motor symptoms that resemble those of patients with lesions to the cerebellum. Although there is some evidence for overall structural alterations in this brain region in WS, explorations on cerebellar white matter and cerebellar cortex volumes remain rather neglected. We aimed to compare absolute and relative cerebellar volumes, as well as patterns of white matter to cortex volumes in this brain region, between a group of individuals with WS and a group of healthy controls. T1-weighted magnetic resonance images were acquired in 17 individuals with WS and in 15 typically developing individuals. Our results showed that even though individuals from the clinical group had significantly smaller cerebrums (and cerebellums), cerebellar volumes relative to intracranial volumes were significantly enlarged. In addition, while gray matter was relatively spared and white matter disproportionately reduced in the cerebrum in WS, relative cerebellar cortex and white matter volumes were preserved. These findings support the hypothesis that volume alterations in the cerebellum are associated with the cognitive, affective and motor profiles in WS.
患有威廉姆斯综合征（WS）的个体呈现出一系列认知、情感和运动症状，这些症状与小脑受损患者的症状相似。尽管有一些证据表明WS患者的这个脑区存在整体结构改变，但对小脑白质和小脑皮质体积的研究仍相当被忽视。我们旨在比较一组WS患者和一组健康对照者之间小脑的绝对体积和相对体积，以及该脑区白质与皮质体积的模式。对17名WS患者和15名发育正常的个体进行了T1加权磁共振成像。我们的结果表明，尽管临床组个体的大脑（和小脑）明显较小，但相对于颅内体积而言，小脑体积显著增大。此外，虽然WS患者大脑中的灰质相对保留而白质不成比例地减少，但小脑皮质和白质的相对体积得以保留。这些发现支持了这样一种假设，即小脑体积改变与WS患者的认知、情感和运动特征相关。
