Rekik Arwa, Mrabet Saloua, Nasri Amina, Abida Youssef, Gharbi Alya, Gargouri Amina, Kacem Imen, Gouider Riadh
Neurology Department, LR18SP03, Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia.
Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi University Hospital, 1 rue des orangers Manouba, 2010, Tunis, Tunisia.
J Neural Transm (Vienna). 2023 Apr;130(4):537-548. doi: 10.1007/s00702-023-02614-9. Epub 2023 Mar 10.
Essential tremor (ET) encompasses a wide spectrum of motor and non-motor features. Eye movement abnormalities were first reported two decades ago as an atypical finding in ET. Today, a growing number of publications about eye movement abnormalities in neurodegenerative diseases have helped understand their pathophysiology and the basis of their phenotypic variability. Thus, addressing such aspect in ET may disentangle, based on the oculomotor network abnormalities, the dysfunctional brain pathways in ET. In this study, we aimed to describe neurophysiological eye movement abnormalities in ET and their clinical correlates in terms of cognition and other associated clinical signs. We conducted a cross-sectional study in a tertiary neurology referral center including consecutive ET patients and cognitively normal healthy controls (HC) matched for age and sex. The study protocol included the assessment of voluntary horizontal saccades, smooth pursuit, anti-saccades and saccadic intrusions. We assessed the associated motor signs, cognitive functions and the presence of rapid eye movement disorder (RBD). Sixty-two ET patients and 66 HC were enrolled in the study. Eye movement examination showed significant abnormalities in comparison with HC (46.7% vs 20%, p = 0.002). Prolonged saccadic latency (38.7%, p = 0.033) and altered smooth pursuit (38.7%, p = 0.033) were the most common abnormalities in ET patients. Anti-saccadic errors (16% vs 0% in HC, p = 0.034) correlated with the presence of rigidity (p = 0.046), bradykinesia (p = 0.001), cognitive dysfunction (p = 0.006), executive dysfunction (p = 0.0002), apraxia (p = 0.0001), altered verbal fluency (p = 0.013) and altered backward digit span (p = 0.045) along with the presence of RBD (p = 0.035). Square-wave jerks (11.5% vs 0% in HC, p = 0.0024) correlated with rest tremor. A distinctive phenotype of ET could emerge out of this study characterized by anti-saccadic errors and a sub-cortical cognitive profile, consecutive to the disruption of the cerebello-thalamo-cortical loop. Patients with anti-saccadic errors could be cognitively vulnerable and in need of a close monitoring of their cognitive efficiency during the disease's progression. They may as well convert to Parkinson disease if they present with parkinsonism, RBD and square-wave jerks and require, consequently, a close observation of their motor progression.
特发性震颤(ET)涵盖了广泛的运动和非运动特征。眼动异常在二十年前首次被报道为ET中的非典型表现。如今,越来越多关于神经退行性疾病中眼动异常的出版物有助于理解其病理生理学及其表型变异的基础。因此,在ET中探讨这一方面可能基于动眼神经网络异常来理清ET中功能失调的脑通路。在本研究中,我们旨在描述ET中的神经生理学眼动异常及其在认知和其他相关临床体征方面的临床相关性。我们在一家三级神经科转诊中心进行了一项横断面研究,纳入了年龄和性别匹配的连续ET患者以及认知正常的健康对照(HC)。研究方案包括对自愿性水平扫视、平稳跟踪、反扫视和扫视侵入的评估。我们评估了相关的运动体征、认知功能以及快速眼动睡眠行为障碍(RBD)的存在情况。62例ET患者和66例HC纳入了研究。与HC相比,眼动检查显示出显著异常(46.7%对20%,p = 0.002)。ET患者中最常见的异常是扫视潜伏期延长(38.7%,p = 0.033)和平稳跟踪改变(38.7%,p = 0.033)。反扫视错误(HC中为16%对0%,p = 0.034)与强直的存在(p = 0.046)、运动迟缓(p = 0.001)、认知功能障碍(p = 0.006)、执行功能障碍(p = 0.0002)、失用症(p = 0.0001)、言语流畅性改变(p = 0.013)、倒背数字跨度改变(p = 0.045)以及RBD的存在(p = 0.035)相关。方波急跳(HC中为11.5%对0%,p = 0.0024)与静止性震颤相关。本研究可能会出现一种以反扫视错误和皮质下认知特征为特点的ET独特表型,这是小脑 - 丘脑 - 皮质环路中断的结果。有反扫视错误的患者在认知上可能较为脆弱,在疾病进展过程中需要密切监测其认知效率。如果他们出现帕金森综合征、RBD和方波急跳,也可能会转变为帕金森病,因此需要密切观察其运动进展情况。