Visual pathway deficit in female fragile X premutation carriers: A potential endophenotype
Visual pathway deficit in female fragile X premutation carriers: A potential endophenotype
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DOI：
10.1016/j.bandc.2008.08.002
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发表时间：
2009-03-01
影响因子：
2.5
通讯作者：
Benedek, Gyoergy
中科院分区：
文献类型：
--
作者：
Keri, Szabolcs;Benedek, Gyoergy
先前的研究表明脆性X综合征患者的大细胞（M）和相对备用的小细胞（P）视觉通路功能受损。在这项研究中，我们评估了22名女性脆性X前突变携带者与正常的智力和20名健康的非载体对照M和P途径。测试程序包括视觉对比敏感度和游标阈值测量。结果显示，运营商选择性受损的测试M途径（低空间/高时间频率对比敏感度和倍频游标），而他们表现出完整的性能P途径测试。这些结果表明，M通路的缺陷是脆性X综合征的内在表型。(C)2008年爱思唯尔公司All rights reserved.
Previous studies indicated impaired magnocellular (M) and relatively spared parvocellular (P) visual pathway functioning in patients with fragile X syndrome. In this study, we assessed M and P pathways in 22 female fragile X premutation carriers with normal intelligence and in 20 healthy non-carrier controls. Testing procedure included visual contrast sensitivity and vernier threshold measurements. Results revealed that carriers were selectively impaired on tests of M pathways (low spatial/high temporal frequency contrast sensitivity and frequency-doubling vernier), whereas they showed intact performance on P pathway tests. These results suggest that the deficit of the M pathway is an endophenotype of fragile X syndrome. (C) 2008 Elsevier Inc. All rights reserved.