Galaburda A M, Wang P P, Bellugi U, Rossen M
Department of Neurology, Charles A. Dana Research Laboratories, Beth Israel Hospital, Boston, MA.
Neuroreport. 1994 Mar 21;5(7):753-7. doi: 10.1097/00001756-199403000-00004.
We report on cytoarchitectonic neocortical findings in a patient with Williams syndrome (WS), a rare genetic disorder resulting in characteristic facies, heart defect, other connective tissue anomalies, and a unique neurobehavioral profile. Cytoarchitectonic anomalies include exaggerated horizontal organization of neurons within layers, most striking in area 17; increased cell packing density throughout brain regions; abnormally clustered and oriented neurons. Overall, posterior forebrain areas were markedly diminished in volume. The results suggest that brain anomalies may relate to the extreme visuospatial deficit in WS, the dysregulation of apoptotic cell death, and the genetic basis of WS, a hemizygous deletion including the elastin locus on chromosome 7. This case provides opportunities for linking brain findings to cognitive deficits and their genetic underpinnings.
我们报告了一名患有威廉姆斯综合征（WS）患者的细胞构筑新皮质研究结果。WS是一种罕见的遗传性疾病，会导致特征性面容、心脏缺陷、其他结缔组织异常以及独特的神经行为特征。细胞构筑异常包括各层内神经元水平组织过度，在17区最为明显；全脑区域细胞堆积密度增加；神经元异常聚集和定向。总体而言，前脑后部区域体积明显减小。结果表明，脑部异常可能与WS中极端的视觉空间缺陷、凋亡细胞死亡的失调以及WS的遗传基础（一种半合子缺失，包括7号染色体上的弹性蛋白基因座）有关。该病例为将脑部研究结果与认知缺陷及其遗传基础相联系提供了机会。
