...
首页> 外文期刊>Brain and cognition >Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: Through eye movements
【24h】

Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: Through eye movements

机译:探索脆性X综合征女性前突变携带者的抑制缺陷:通过眼球运动

获取原文
获取原文并翻译 | 示例
           

摘要

There is evidence which demonstrates that a subset of males with a premutation CGG repeat expansion (between 55 and 200 repeats) of the fragile X mental retardation 1 gene exhibit subtle deficits of executive function that progressively deteriorate with increasing age and CGG repeat length. However, it remains unclear whether similar deficits, which may indicate the onset of more severe degeneration, are evident in female PM-carriers. In the present study we explore whether female PM-carriers exhibit deficits of executive function which parallel those of male PM-carriers. Fourteen female fragile X premutation carriers without fragile X-associated tremor/ataxia syndrome and fourteen age, sex, and IQ_ matched controls underwent ocular motor and neuropsychological tests of select executive processes, specifically of response inhibition and working memory. Group comparisons revealed poorer inhibitory control for female premutation carriers on ocular motor tasks, in addition to demonstrating some difficulties in behaviour self-regulation, when compared to controls. A negative correlation between CGG repeat length and antisaccade error rates for premutation carriers was also found. Our preliminary findings indicate that impaired inhibitory control may represent a phenotype characteristic which may be a sensitive risk biomarker within this female fragile X premutation population.
机译:有证据表明,具有脆弱的X智力低下1基因的CGG重复突变(在55至200个重复之间)的男性子集表现出细微的执行功能缺陷,该缺陷随着年龄和CGG重复长度的增加而逐渐恶化。然而,尚不清楚在女性PM携带者中是否存在类似的缺陷,这可能表明更严重的变性发作。在本研究中,我们探索女性PM携带者是否表现出与男性PM携带者平行的执行功能缺陷。十四个没有脆弱的X相关震颤/共济失调综合征和十四个年龄,性别和IQ_匹配对照的女性脆弱X诱变携带者接受了选择性执行过程的眼动和神经心理学测试,特别是反应抑制和工作记忆。小组比较显示,与对照组相比,除表现出行为自我调节方面的一些困难外,女性眼前变异携带者对眼运动任务的抑制控制能力较差。还发现CGG重复长度与预突变载体的反扫视误差率之间呈负相关。我们的初步发现表明抑制性控制障碍可能代表了这种表型特征,这可能是该女性脆弱X预突变人群中的敏感风险生物标记。

著录项

  • 来源
    《Brain and cognition》 |2014年第3期|201-208|共8页
  • 作者单位

    School of Psychiatry and Psychology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3800, Australia;

    School of Psychiatry and Psychology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3800, Australia;

    School of Psychiatry and Psychology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3800, Australia;

    School of Psychiatry and Psychology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3800, Australia;

    Genetics Education and Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia,Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria 3025, Australia;

    School of Psychiatry and Psychology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3800, Australia;

    Olga Tennison Autism Research Centre, School of Psychological Science, La Trobe University, Bundoora 3086, Australia;

    Genetics Education and Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia,Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria 3025, Australia,Victorian Clinical Genetics Services, Flemington Rd, Parkville, Victoria 3052, Australia;

    Genetics Education and Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia,Centre for Developmental Disability Health Victoria, Monash University, Clayton, Victoria 3800, Australia,Fragile X Alliance Inc., Clinic and Resource Centre, 263 Glen Eira Road, North Caulfield, Victoria 3161, Australia;

    Department of Developmental Disability Neuropsychiatry and Centre for Health Brain Ageing, School of Psychiatry, University of New South Wales, Sydney 2052, Australia;

    School of Psychiatry and Psychology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3800, Australia;

  • 收录信息
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

    Saccade; Eye tracking; Premutation carrier; Fragile X syndrome; FXS; FMR1; Response inhibition;

    机译:扫视眼动追踪;预突变载体;易碎X综合征;FXS;FMR1;反应抑制;

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