Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia
Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia
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DOI：
10.1093/brain/awm323
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发表时间：
2008-04-01
期刊：
影响因子：
14.5
通讯作者：
Delatycki, Martin B.
中科院分区：
文献类型：
--
作者：
Fahey, Michael C.;Cremer, Phillip D.;Delatycki, Martin B.
Friedreich共济失调是遗传性共济失调中最常见的一种，是一种影响眼运动功能的多系统神经退行性疾病。我们评估了20名经基因确认的FRDA患者的眼球运动异常，并将这些结果与临床测量结果进行了比较。所有受试者均接受红外线眼科检查。15名受试者接受了完整的眼动记录。10名受试者使用二维巩膜线圈设备进行分析，5名受试者使用三维巩膜线圈记录设备进行分析。同时记录患者的视觉生活质量、斯隆低对比度字母敏感度和Friedreich共济失调评定量表评分，并与视觉测量结果进行比较。虽然眼跳速度基本正常，但眼跳潜伏期延长了。潜伏期与疾病严重程度的临床测量相关，包括Friedreich共济失调评定量表和斯隆低对比字母视力测试的分数。由方波抽动和眼球扑动组成的固定异常是常见的，包括罕见的垂直方波抽动。前庭异常在该组中也很明显，前庭-眼反射增益明显降低，潜伏期延长。眼球运动异常的范围表明，FRDA的神经功能障碍包括脑干、皮质和前庭通路。严重的前庭病变和基本上正常的扫视速度是FRDA的特征，并与一些主要的脊髓小脑性共济失调相区别。眼跳潜伏期与FARS评分的相关性增加了其作为FRDA临床试验生物标记物的可能性。
Friedreich ataxia (FRDA), the commonest of the inherited ataxias, is a multisystem neurodegenerative condition that affects ocular motor function. We assessed eye movement abnormalities in 20 individuals with genetically confirmed FRDA and compared these results to clinical measures. All subjects were assessed with infrared oculography. Fifteen individuals underwent a full protocol of eye movement recordings. Ten subjects were analysed using two-dimensional scleral coil equipment and five using three-dimensional scleral coil recording equipment. We also recorded visual quality of life, Sloan low contrast letter acuity and Friedreich Ataxia Rating Scale scores to compare to the visual measures. Whilst saccadic velocity was essentially normal, saccadic latency was prolonged. The latency correlated with clinical measures of disease severity, including the scores for the Friedreich Ataxia Rating Scale and the Sloan low contrast letter acuity tests. Fixation abnormalities consisting of square wave jerks and ocular flutter were common, and included rare examples of vertical square wave jerks. Vestibular abnormalities were also evident in the group, with markedly reduced vestibulo-ocular reflex gain and prolonged latency. The range of eye movement abnormalities suggest that neurological dysfunction in FRDA includes brainstem, cortical and vestibular pathways. Severe vestibulopathy with essentially normal saccadic velocity are hallmarks of FRDA and differentiate it from a number of the dominant spinocerebellar ataxias. The correlation of saccadic latency with FARS score raises the possibility of its use as a biomarker for FRDA clinical trials.