Selective executive markers of at-risk profiles associated with the fragile X premutation
Selective executive markers of at-risk profiles associated with the fragile X premutation
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DOI：
10.1212/wnl.0b013e3182299e59
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发表时间：
2011-08-01
期刊：
影响因子：
9.9
通讯作者：
Kogan, Cary S.
中科院分区：
文献类型：
--
作者：
Cornish, Kim M.;Hocking, Darren R.;Kogan, Cary S.
目的：本研究确定了CGG重复长度是否调节了最近描述的迟发性神经退行性疾病脆性X相关震颤/共济失调综合征（FXTAS）无症状的前突变携带者（PM）的执行功能选择性测量的年龄和表现之间的关系。对40名有脆性X综合征家族史的18-69岁PM男性进行了抑制和工作记忆的神经心理学测试。我们只检查了FXTAS无症状的男性。采用多元回归分析的方法研究了CGG重复序列长度在抑制和工作记忆任务中对年龄与成绩之间关系的调节作用。随着年龄的增长，仅在FMR 1扩展在前突变上限范围内的男性中（>100 CGG重复）在涉及抑制的选择性执行功能测量中，年龄与较差的任务表现之间是否存在关联（p < 0.05）和执行工作记忆（p < 0.01）。男性在较低的前突变范围（
Objective: This study determined whether CGG repeat length moderates the relationship between age and performance on selective measures of executive function in premutation carriers (PM) who are asymptomatic for a recently described late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS).Methods: Forty PM men aged 18-69 years with a family history of fragile X syndrome underwent neuropsychological tests of inhibition and working memory. We examined only men who are asymptomatic for FXTAS. Multiple regression analyses were conducted to examine the moderating role of CGG repeat length on the relation between age and performance on inhibition and working memory tasks.Results: With increasing age and only in men with an FMR1 expansion in the upper premutation range (>100 CGG repeats) was there an association between age and poorer task performance on selective executive function measures involving inhibition (p < 0.05) and executive working memory (p < 0.01). Men in the lower premutation range (