Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome
Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome
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DOI：
10.1002/mds.21359
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发表时间：
2007-04-15
影响因子：
8.6
通讯作者：
Hagerman, Randi J.
中科院分区：
文献类型：
--
作者：
Grigsby, Jim;Brega, Angela G.;Hagerman, Randi J.
脆性X相关震颤/共济失调综合征（FXTAS）是最近发现的一种与脆性X智力迟钝1 （FMR1）基因突变前三核苷酸重复扩增相关的表型。除了进行性步态共济失调、运动性震颤、周围神经病变和帕金森病外，FXTAS还涉及认知障碍。我们的初步研究表明，执行认知功能（ECF）尤其受到影响。在这项研究中，对33名FXTAS患者和27名健康对照者进行了简短的神经心理检查。与对照组相比，患有FXTAS的个体在韦氏成人智力量表第三版（WAIS-III；言语智商、表现[非言语]智商、言语理解、知觉组织和加工速度）的测量中显示出统计学上显著的损伤。FXTAS的受试者在四项ECF测试中的三项和两项信息处理速度测试中得分明显较低。结果证明，FXTAS涉及一般智力功能的损害，执行认知能力的明显损害。认知表现的模式与额颞叶痴呆的额叶变体和几种脊髓小脑共济失调中观察到的模式有些相似，但与阿尔茨海默型痴呆中观察到的缺陷不同。(c) 2007年运动障碍协会。
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (FMR1) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive cognitive functioning (ECF) is especially affected. In this study, a brief neuropsychological exam was administered to 33 trien with FXTAS and 27 healthy controls. Compared with controls, individuals with FXTAS showed statistically significant impairments on measures from the Wechsler Adult Intelligence Scale, third edition (WAIS-III; verbal IQ, performance [non-verbal] IQ, verbal comprehension, perceptual organization, and processing speed). FXTAS subjects scored significantly lower on three of four measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type. (c) 2007 Movement Disorder Society.