Lasker Adrian G, Mazzocco Michèle M M, Zee David S
Department of Neurology, Suite 2210, Pathology Building, The Johns Hopkins School of Medicine, 601 N. Broadway, Baltimore, MD 21287-6921, USA.
Brain Cogn. 2007 Apr;63(3):203-20. doi: 10.1016/j.bandc.2006.08.002. Epub 2006 Nov 14.
Fragile X and Turner syndromes are two X-chromosome-related disorders associated with executive function and visual spatial deficits. In the present study, we used ocular motor paradigms to examine evidence that disruption to different neurological pathways underlies these deficits. We tested 17 females with fragile X, 19 females with Turner syndrome, and 40 females with neither disorder who comprised the comparison group. Group differences emerged for both the fragile X and Turner syndrome groups, each relative to the comparison group: Females with fragile X had deficits in generating memory-guided saccades, predictive saccades, and saccades made in the overlap condition of a gap/overlap task. Females with Turner syndrome showed deficits in generating memory-guided saccades, but not during either the predictive saccade or gap/overlap task. Females with Turner syndrome, but not females with fragile X, showed deficits in visually guided saccades and anti-saccades. These findings indicate that different brain regions are affected in the two disorders, and suggest that different pathways lead to the similar cognitive phenotypes described for fragile X and Turner syndromes.
脆性X综合征和特纳综合征是两种与X染色体相关的疾病,与执行功能和视觉空间缺陷有关。在本研究中,我们使用眼动范式来检验证据,即不同神经通路的破坏是这些缺陷的基础。我们测试了17名脆性X综合征女性、19名特纳综合征女性和40名无这两种疾病的女性组成的对照组。脆性X综合征组和特纳综合征组与对照组相比均出现了组间差异:脆性X综合征女性在生成记忆引导扫视、预测性扫视以及在间隙/重叠任务的重叠条件下进行的扫视方面存在缺陷。特纳综合征女性在生成记忆引导扫视方面存在缺陷,但在预测性扫视或间隙/重叠任务中均未出现缺陷。特纳综合征女性在视觉引导扫视和反扫视方面存在缺陷,而脆性X综合征女性则没有。这些发现表明,这两种疾病中不同的脑区受到影响,并表明不同的通路导致了脆性X综合征和特纳综合征所描述的相似认知表型。