Department of Neurology, RWTH Aachen University, Pauwelsstraße 30, 52074, Aachen, Germany.
JARA-Brain Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH/RWTH Aachen University, Aachen, Germany.
Cerebellum. 2019 Oct;18(5):896-909. doi: 10.1007/s12311-019-01073-x.
Friedreich's ataxia (FRDA) is a rare autosomal-recessive slowly progressive neurodegenerative disorder. As common clinical measures for this devastating disease lack sensitivity, we explored whether (a) the quantitative motor assessments of the Q-Motor battery can enhance clinical characterisation of FRDA; (b) clinical measures can predict Q-Motor outcomes and (c) Q-Motor is sensitive to longitudinal change. At baseline 29 patients and 23 controls and in a 1-year follow-up 14 patients and 6 controls were included. The Q-Motor included lift (manumotography), finger tapping (digitomotography) and pronate/supinate (dysdiadochomotography) tasks. To model responses, a search of generalised linear models was conducted, selecting best fitting models, using demographic and clinical data as predictors. Predictors from selected models were used in linear mixed models to investigate longitudinal changes. Patients with FRDA performed worse than controls on most measures. Modelling of the pronate/supinate task was dominated by SCAFI (SCA functional index) subtasks, while tapping task and lift task models suggested a complex relationship with clinical measures. Longitudinal modelling implied minor changes from baseline to follow-up, while clinical scales mainly showed no change in this sample. Overall Q-Motor likely has favourable properties for assessing distinct motor aspects in severe FRDA as it can be administered in wheelchair-bound patients. Further longitudinal research is warranted to fully characterise its relation to routinely used measures and scales for FRDA.
弗里德赖希共济失调（FRDA）是一种罕见的常染色体隐性遗传性进行性神经退行性疾病。由于缺乏敏感性的常见临床措施，我们探讨了（a）Q-Motor 电池的定量运动评估是否可以增强 FRDA 的临床特征；（b）临床措施是否可以预测 Q-Motor 的结果，以及（c）Q-Motor 是否对纵向变化敏感。在基线时，有 29 名患者和 23 名对照者，在 1 年随访时，有 14 名患者和 6 名对照者。Q-Motor 包括提升（手动运动描记术）、手指敲击（数字运动描记术）和旋前/旋后（运动失调描记术）任务。为了建模响应，进行了广义线性模型的搜索，选择了最佳拟合模型，使用人口统计学和临床数据作为预测因子。从选定模型中选择的预测因子用于线性混合模型，以研究纵向变化。 FRDA 患者在大多数测量中表现都比对照组差。旋前/旋后任务的建模主要由 SCAFI（SCA 功能指数）子任务主导，而敲击任务和提升任务模型表明与临床测量有复杂的关系。纵向建模暗示从基线到随访的变化较小，而临床量表主要显示在该样本中没有变化。总体而言，Q-Motor 可能具有评估严重 FRDA 中不同运动方面的有利特性，因为它可以在轮椅患者中进行管理。需要进一步的纵向研究来充分描述其与 FRDA 常用的测量和量表的关系。
