PDF(Pubmed)
Abstract：
UNASSIGNED: There is evidence for a significant excess of kinetic upper limb tremor in non-FXTAS female FMR1 premutation carriers. The present study explores the possibility that this tremor is associated with various other features reminiscent of those occurring in syndromic FXTAS.
UNASSIGNED: This study analyzed the data from an Australian cohort of 48 asymptomatic premutation women. We utilized spiral drawings from CRST, representing action tremor; the CRST total tremor; and ICARS- kinetic tremors/cerebellar ataxia scales. Cognitive tests (involving executive functioning) included SDMT, TMT, two subtests of the WAIS-III: MR and Similarities. Spearman Rank correlations assessed the relationships between the above measures, and the Chi-square tested hypothesis about the association between the white matter hyperintensities (wmhs) in the splenium of corpus callosum assessed from MR images and spiral drawings scores.
UNASSIGNED: The spiral drawing scores were significantly correlated with all three non-verbal cognitive test scores, and with the CRST scores; the latter correlated with all four cognitive test measures. Similarities (verbal) scores correlated with CRST, ICARS, and with the remaining cognitive scores. Ordered spiral scores\' categories were significantly associated with the degree of splenium involvement.
UNASSIGNED: This study showed that, in non-FXTAS premutation female carriers, sub-symptomatic forms of kinetic tremor were associated with a broader motor, and cognitive (especially executive) dysfunction.
UNASSIGNED: This study analyzed the data from an Australian cohort of 48 asymptomatic premutation women. We utilized spiral drawings from CRST, representing action tremor; the CRST total tremor; and ICARS- kinetic tremors/cerebellar ataxia scales. Cognitive tests (involving executive functioning) included SDMT, TMT, two subtests of the WAIS-III: MR and Similarities. Spearman Rank correlations assessed the relationships between the above measures, and the Chi-square tested hypothesis about the association between the white matter hyperintensities (wmhs) in the splenium of corpus callosum assessed from MR images and spiral drawings scores.
UNASSIGNED: The spiral drawing scores were significantly correlated with all three non-verbal cognitive test scores, and with the CRST scores; the latter correlated with all four cognitive test measures. Similarities (verbal) scores correlated with CRST, ICARS, and with the remaining cognitive scores. Ordered spiral scores\' categories were significantly associated with the degree of splenium involvement.
UNASSIGNED: This study showed that, in non-FXTAS premutation female carriers, sub-symptomatic forms of kinetic tremor were associated with a broader motor, and cognitive (especially executive) dysfunction.
摘要：
■有证据表明，非FXTAS女性FMR1前突变携带者的上肢震颤明显过多。本研究探讨了这种震颤与各种其他特征有关的可能性，这些特征使人联想到在综合征FXTAS中发生的那些。
■这项研究分析了来自澳大利亚队列的48名无症状前突变女性的数据。我们利用了CRST的螺旋图纸，代表行动性震颤；CRST总震颤；和ICARS-动力学震颤/小脑共济失调量表。认知测试(涉及执行功能)包括SDMT，TMT,WAIS-III的两个子测试：MR和相似性。SpearmanRank相关性评估了上述度量之间的关系，卡方检验了关于从MR图像和螺旋图评分评估的call体脾白质高强度（wmhs）之间的关联的假设。
■螺旋绘图分数与所有三个非语言认知测试分数均显着相关，以及CRST分数；后者与所有四个认知测试指标相关。与CRST相关的相似性（言语）得分，ICARS,以及剩余的认知分数。有序螺旋评分类别与脾受累程度显著相关。
■这项研究表明，在非FXTAS预突变女性携带者中，亚症状形式的运动性震颤与更广泛的运动有关，和认知（尤其是执行）功能障碍。
■这项研究分析了来自澳大利亚队列的48名无症状前突变女性的数据。我们利用了CRST的螺旋图纸，代表行动性震颤；CRST总震颤；和ICARS-动力学震颤/小脑共济失调量表。认知测试(涉及执行功能)包括SDMT，TMT,WAIS-III的两个子测试：MR和相似性。SpearmanRank相关性评估了上述度量之间的关系，卡方检验了关于从MR图像和螺旋图评分评估的call体脾白质高强度（wmhs）之间的关联的假设。
■螺旋绘图分数与所有三个非语言认知测试分数均显着相关，以及CRST分数；后者与所有四个认知测试指标相关。与CRST相关的相似性（言语）得分，ICARS,以及剩余的认知分数。有序螺旋评分类别与脾受累程度显著相关。
■这项研究表明，在非FXTAS预突变女性携带者中，亚症状形式的运动性震颤与更广泛的运动有关，和认知（尤其是执行）功能障碍。
