School of Psychological Sciences, Tel Aviv University, Tel Aviv, Israel.
The Center for Psychobiological Research, Department of Psychology and Educational Counseling, Max Stern Yezreel Valley College, Yezreel Valley, Israel.
Cerebellum. 2024 Aug;23(4):1273-1279. doi: 10.1007/s12311-023-01552-2. Epub 2023 Mar 28.
Because of the crucial importance of finding a useful biomarker for further clinical trials in Machado-Joseph disease (MJD), and based on our previous studies, we aimed to evaluate whether the horizontal vestibulo-ocular reflex (VOR) gain could be a reliable neurophysiological biomarker for the clinical onset, severity, and progression of the disease. Thirty-five MJD patients, 11 pre-symptomatic genetically confirmed MJD subjects, and 20 healthy controls underwent a detailed epidemiological and clinical neurological examination including the Scale for the Assessment and Rating of Ataxia (SARA). Their VOR gain was measured using the video Head Impulse Test system. Twenty of the MJD patients were re-tested after a period of 1-3 years. Horizontal VOR gain was abnormal in 92% of MJD, 54% pre-symptomatic, and 0% healthy controls. Horizontal VOR gain in the MJD group was significantly negatively correlated with SARA score in the first (r=0.66, p<0.001) and second (r=0.61, p<0.001) examinations. There was also a significant negative correlation between the percentage of change in horizontal VOR gain and the percentage of change in SARA score across both examinations (r=-0.54, p < 0.05). A regression model of the SARA score with the horizontal VOR gain and disease duration as predictors demonstrated that both the horizontal VOR gain and the disease duration had an independent contribution to the prediction of the SARA score. The horizontal VOR gain seems to be a reliable biomarker for the clinical onset, severity, and progression of MJD and could be used in further clinical studies.
由于在 Machado-Joseph 病 (MJD) 中寻找有用的生物标志物进行进一步临床试验至关重要，并且基于我们之前的研究，我们旨在评估水平前庭眼反射 (VOR) 增益是否可以成为疾病临床发作、严重程度和进展的可靠神经生理学生物标志物。35 名 MJD 患者、11 名预先确诊的 MJD 遗传确认受试者和 20 名健康对照者接受了详细的流行病学和临床神经学检查，包括共济失调评估和评分量表 (SARA)。他们的 VOR 增益使用视频头脉冲测试系统进行测量。20 名 MJD 患者在 1-3 年后进行了重新测试。92%的 MJD、54%的无症状和 0%的健康对照组的水平 VOR 增益异常。MJD 组的水平 VOR 增益与首次 (r=0.66，p<0.001) 和第二次 (r=0.61，p<0.001) 检查中的 SARA 评分呈显著负相关。水平 VOR 增益的变化百分比与两次检查中的 SARA 评分的变化百分比之间也存在显著的负相关 (r=-0.54，p<0.05)。以水平 VOR 增益和疾病持续时间为预测因子的 SARA 评分回归模型表明，水平 VOR 增益和疾病持续时间均对 SARA 评分的预测有独立贡献。水平 VOR 增益似乎是 MJD 临床发作、严重程度和进展的可靠生物标志物，可用于进一步的临床研究。
