PDF(Pubmed)
Abstract：
Aging FMR1 premutation carriers are at risk of developing neurodegenerative disorders, including fragile X-associated tremor/ataxia syndrome (FXTAS), and there is a need to identify biomarkers that can aid in identification and treatment of these disorders. While FXTAS is more common in males than females, females can develop the disease, and some evidence suggests that patterns of impairment may differ across sexes. Few studies include females with symptoms of FXTAS, and as a result, little information is available on key phenotypes for tracking disease risk and progression in female premutation carriers. Our aim was to examine quantitative motor and cognitive traits in aging premutation carriers. We administered oculomotor tests of visually guided/reactive saccades (motor) and antisaccades (cognitive control) in 22 premutation carriers (73% female) and 32 age- and sex-matched healthy controls. Neither reactive saccade latency nor accuracy differed between groups. FMR1 premutation carriers showed increased antisaccade latencies relative to controls, both when considering males and females together and when analyzing females separately. Reduced saccade accuracy and increased antisaccade latency each were associated with more severe clinically rated neuromotor impairments. Findings indicate that together male and female premutation carriers show a reduced ability to rapidly exert volitional control over prepotent responses and that quantitative differences in oculomotor behavior, including control of visually guided and antisaccades, may track with FXTAS - related degeneration in male and female premutation carriers.
摘要：
老化的FMR1前突变携带者有发展为神经退行性疾病的风险，包括脆性X相关震颤/共济失调综合征（FXTAS），并且需要确定可以帮助识别和治疗这些疾病的生物标志物。虽然FXTAS在男性中比女性更常见，女性会患上这种疾病，一些证据表明，不同性别的损伤模式可能有所不同。很少有研究包括有FXTAS症状的女性，结果，关于追踪女性前突变携带者疾病风险和进展的关键表型的信息很少.我们的目的是研究衰老前突变携带者的定量运动和认知特征。我们对22名前突变携带者（73％为女性）和32名年龄和性别匹配的健康对照进行了视觉引导/反应性扫视（运动）和反扫视（认知控制）的动眼测试。组间反应性扫视潜伏期和准确性均无差异。FMR1前突变携带者相对于对照显示出抗扫视潜伏期增加，在一起考虑男性和女性以及分别分析女性时。扫视准确性降低和反扫视潜伏期增加均与更严重的临床评估神经运动障碍相关。研究结果表明，男性和女性的预突变携带者对强效反应的快速施加意志控制的能力降低，并且动眼行为的数量差异，包括视觉引导和反扫视的控制，在男性和女性前突变携带者中可能与FXTAS相关的变性追踪。
