...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>American journal of medical genetics, Part A >Cognition in nephropathic cystinosis: Pattern of expression in heterozygous carriers
【24h】

Cognition in nephropathic cystinosis: Pattern of expression in heterozygous carriers

机译：肾病性胱氨酸病中的认知：杂合子携带者中的表达模式。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Individuals with cystinosis exhibit specific cognitive deficits in visual spatial function. The purpose of the current study was to examine if obligate heterozygotes of the CTNS mutation have the same pattern of cognitive functioning seen in homozygotes, namely aberrant visual-spatial functioning against a background of relatively intact visual-perceptual functioning and overall cognitive ability. Study participants were 254 adults (100 heterozygotes and 154 controls), ages 17 years 10 months through 74 years 9 months. Tests of intelligence, visual perceptual, and visual spatial functioning were administered. Our results showed that cystinosis heterozygotes demonstrated intelligence within the normal range, and performed similarly to controls on tests of visual-perceptual ability. In contrast, the heterozygotes performed significantly more poorly on each of the visual-spatial tests when compared to controls. Obligate heterozygotes for the CTNS mutation display a similar pattern of visual processing decrements as do individuals with cystinosis. Namely, carriers demonstrate relative weaknesses in visual-spatial processing, while maintaining normal visual perceptual ability and intelligence in the normal range. The visual spatial decrements in heterozygotes were not as marked as those found in individuals with cystinosis, suggesting a gene dosing effect. This study provides an impetus for other studies of gene-behavior relationships in recessive disorders, and may stimulate further interest in the role of aberrant genes on "individual differences" in behavior.
机译：胱氨酸病个体在视觉空间功能上表现出特定的认知缺陷。本研究的目的是检查CTNS突变的专性杂合子是否具有与纯合子相同的认知功能模式，即在相对完整的视觉感知功能和整体认知能力的背景下异常的视觉空间功能。研究参与者为254位成人（100位杂合子和154位对照），年龄17岁10个月至74岁9个月。进行智力，视觉感知和视觉空间功能测试。我们的结果表明，胱氨酸病杂合子在正常范围内显示出智力，并且与视觉感知能力测试的对照表现相似。相反，与对照相比，杂合子在每个视觉空间测试中的表现均明显较差。 CTNS突变的专性杂合子显示的视觉加工递减模式与胱氨酸病个体相似。即，携带者表现出视觉空间处理中的相对弱点，同时将正常的视觉感知能力和智力保持在正常范围内。杂合子的视觉空间减少不如在胱氨酸病个体中发现的那样明显，表明基因剂量效应。这项研究为隐性疾病中的基因-行为关系的其他研究提供了动力，并且可能激发人们对异常基因对行为“个体差异”的作用的进一步关注。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号