Phenotypes of hypofrontality in older female fragile X premutation carriers.
Phenotypes of hypofrontality in older female fragile X premutation carriers.
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DOI：
10.1002/ana.23933
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发表时间：
2013-08
影响因子：
11.2
通讯作者：
Olichney, John M.
中科院分区：
文献类型：
--
作者：
Yang, Jin-Chen;Simon, Christa;Niu, Yu-Qiong;Bogost, Mark;Schneider, Andrea;Tassone, Flora;Seritan, Andreea;Grigsby, Jim;Hagerman, Paul J.;Hagerman, Randi J.;Olichney, John M.
探讨伴有和不伴有脆性X相关震颤/共济失调综合征(FXTAS)的老年女性脆性X预突变携带者(FXTAS)认知损害的性质和潜在的脑机制。对84例女性受试者进行了广泛的神经心理测试和认知事件相关脑电位(ERPs)检查，其中FXTAS患者33例(平均年龄62.8岁)，无FXTAS患者25例(平均年龄55.4岁)，正常对照组26例(平均年龄59.3岁)。两个前突变组在行为控制障碍量表(BDS)上都表现出执行功能障碍，在没有FXTAS的女性携带者中，在抑制和表现监测方面有轻微的损害，在FXTAS女性中有更严重的缺陷。然而，没有FXTAS的女性携带者组在工作记忆方面表现出更明显的缺陷。FXTAS患者额叶P300波幅降低，潜伏期延长，而非FXTAS携带者仅额叶P300波幅降低。这些额叶P3测量与执行功能和信息加工速度相关。本研究的神经心理测试和事件相关电位结果支持这样的假设，即执行功能障碍是患有和不患有FXTAS的老年女性前突变携带者的主要认知障碍，尽管与FXTAS男性相比，这些缺陷相对较轻。这些发现与前突变和衰老对老年女性脆性X前突变携带者认知障碍的协同效应是一致的，即使在那些没有FXTAS症状的女性中也是如此。
To investigate the nature of cognitive impairments and underlying brain mechanisms in older female fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Extensive neuropsychological testing and cognitive event-related brain potentials (ERPs, particularly, the auditory P300) were examined in 84 female participants: 33 fragile X premutation carriers with FXTAS (mean age = 62.8), 25 premutation carriers without FXTAS (mean age = 55.4) and 26 normal healthy controls (mean age = 59.3). Both premutation groups exhibited executive dysfunction on the Behavioral Dyscontrol Scale (BDS), with subtle impairments in inhibition and performance monitoring in female carriers without FXTAS, and more substantial deficits in FXTAS women. However, the female carrier group without FXTAS showed more pronounced deficiencies in working memory. Abnormal ERPs were recorded over the frontal lobes, where FXTAS patients showed both P300 amplitude reduction and latency prolongation, while only decreased frontal P300 amplitudes were found in carriers without FXTAS. These frontal P3 measures correlated with executive function and information processing speed. The neuropsychological testing and ERP results of the present study provide support for the hypothesis that executive dysfunction is the primary cognitive impairment among older female premutation carriers both with and without FXTAS, although these deficits are relatively mild compared to those in FXTAS males. These findings are consistent with a synergistic effect of the premutation and aging on cognitive impairment among older female fragile X premutation carriers, even in those without FXTAS symptoms.
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影响因子：
2
作者：
Basuta, Kirin;Narcisa, Vivien;Chavez, Alyssa;Kumar, Madhur;Gane, Louise;Hagerman, Randi;Tassone, Flora
通讯作者：
Tassone, Flora
影响因子：
9.8
作者：
Hunter, Jessica Ezzell;Allen, Emily Graves;Sherman, Stephanie L.
通讯作者：
Sherman, Stephanie L.
DOI：
10.1017/s1355617711000634
发表时间：
2011-07
影响因子：
2.6
作者：
Goodrich-Hunsaker, Naomi J.;Wong, Ling M.;McLennan, Yingratana;Tassone, Flora;Harvey, Danielle;Rivera, Susan M.;Simon, Tony J.
通讯作者：
Simon, Tony J.
影响因子：
4.8
作者：
Fjell, Anders M.;Walhovd, Kristine B.;Reinvang, Ivar
通讯作者：
Reinvang, Ivar
DOI：
10.1080/13803390701819044
发表时间：
2008-01-01
影响因子：
2.2
作者：
Brega, Angela G.;Goodrich, Glenn;Grigsby, Jim
通讯作者：
Grigsby, Jim