Narcisa Vivien, Aguilar Dalila, Nguyen Danh V, Campos Luis, Brodovsky Jeffrey, White Shana, Adams Patrick, Tassone Flora, Hagerman Paul J, Hagerman Randi J
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California-Davis Medical Center, 2825 50th Street, Sacramento, CA 95817, USA ; Department of Pediatrics, University of California-Davis Medical Center, 2516 Stockton Boulevard, Sacramento, CA 95817, USA.
Curr Gerontol Geriatr Res. 2011;2011:484713. doi: 10.1155/2011/484713. Epub 2011 May 8.
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a relatively common cause of balance problems leading to gait disturbances in older males (40%) with the premutation. FXTAS is less common in females. We utilized the CATSYS system, a quantitative measure of movement, in 23 women with FXTAS (mean age 62.7; SD 12.3), 90 women with the premutation without FXTAS (mean age 52.9; SD 9.4), and 37 controls (mean age 56.53; SD 7.8). CATSYS distinguished differences between carriers with and without FXTAS in postural tremor, postural sway, hand coordination, and reaction time tasks. Differences were also seen between carriers without FXTAS and controls in finger tapping, reaction time, and one postural sway task. However, these differences did not persist after statistical correction for multiple comparisons. Notably, there were no differences across groups in intention tremor. This is likely due to the milder symptoms in females compared to males with FXTAS.
脆性X相关震颤/共济失调综合征（FXTAS）是导致携带前突变的老年男性（40%）出现平衡问题并进而引发步态障碍的相对常见原因。FXTAS在女性中较为少见。我们对23名患有FXTAS的女性（平均年龄62.7岁；标准差12.3）、90名携带前突变但未患FXTAS的女性（平均年龄52.9岁；标准差9.4）以及37名对照者（平均年龄56.53岁；标准差7.8）使用了CATSYS系统，这是一种对运动的定量测量方法。CATSYS能够区分患有和未患FXTAS的携带者在姿势性震颤、姿势性摆动、手部协调性以及反应时间任务方面的差异。在手指轻敲、反应时间以及一项姿势性摆动任务中，未患FXTAS的携带者与对照者之间也存在差异。然而，在对多重比较进行统计校正后，这些差异不再存在。值得注意的是，各群体在意向性震颤方面没有差异。这可能是由于与患有FXTAS的男性相比，女性的症状较轻。
