The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome
The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome
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DOI：
10.1080/13803390701819044
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发表时间：
2008-01-01
影响因子：
2.2
通讯作者：
Grigsby, Jim
中科院分区：
文献类型：
--
作者：
Brega, Angela G.;Goodrich, Glenn;Grigsby, Jim
脆性X相关震颤/共济失调综合征(FXTAS)是一种与脆性X智力低下1基因前突变三核苷酸重复扩增相关的神经退行性疾病。症状包括步态共济失调、动作震颤和认知障碍。这项研究的目的是阐明在FXTAS中观察到的执行障碍综合征的性质，并评估执行障碍对非执行认知功能缺陷的贡献。与对照组相比，患有FXTAS的男性表现出显著的执行障碍，这被发现在大多数其他认知能力上调节了群体差异。无症状前突变携带者在执行功能的所有指标上的表现与对照组相似，只有两项除外。这些发现表明，FXTAS的非执行认知技能的损害在很大程度上是继发性的执行功能障碍。
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation trinucleotide repeat expansion in the fragile X mental retardation 1 gene. Symptoms include gait ataxia, action tremor, and cognitive impairment. The objectives of the study were to clarify the nature of the dysexecutive syndrome observed in FXTAS and to assess the contribution of executive impairment to deficits in nonexecutive cognitive functions. Compared to controls, men with FXTAS demonstrated significant executive impairment, which was found to mediate group differences in most other cognitive abilities. Asymptomatic premutation carriers performed similarly to controls on all but two measures of executive functioning. These findings suggest that the impairment of nonexecutive cognitive skills in FXTAS is in large part secondary to executive dysfunction.