Hale Evan A, Hickman Ruby, Dowd Hollie, Varathan Deepti, Liu Gina, Louis Elan D
Division of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, United States.
Center for Neuroepidemiology and Clinical Neurological Research, Yale School of Medicine, Yale University, New Haven, CT, United States.
Front Neurol. 2020 Jul 17;11:605. doi: 10.3389/fneur.2020.00605. eCollection 2020.
Essential tremor (ET) cases often exhibit a range of mild cerebellar signs. Their unaffected relatives have been shown in prior studies to exhibit subtle (i.e., preclinical) disease features. To quantify subtle cerebellar signs in unaffected first-degree relatives of ET cases stratified based on their tremor severity. Two hundred sixty-nine first-degree relatives of ET cases, none of whom reported tremor or a diagnosis of ET, or were diagnosed with ET based on detailed neurological examination, were stratified based on total tremor score (TTS) into two groups (lower TTS vs. higher TTS) and quartiles. Changes in gait, balance, and intention tremor were quantified on neurological examination. Higher TTS performed worse on the tandem stance task ( = 0.011). When stratified into TTS quartiles, higher quartile was associated with worse performance in tandem stance ( = 0.011) and stance with feet together ( = 0.028). Similarly, intention tremor in the arms ( = 0.0002) and legs ( = 0.047) were higher in the groups with more tremor. The links between ET and the cerebellum are multiple. These data provide intriguing evidence that subtle cerebellar signs (i.e., changes in balance and intention tremor) are more prevalent among first-degree relatives of ET cases with more tremor (i.e., those who may be themselves on the pathway to developing ET). These data contribute to a better characterization of what may be an early subclinical stage of the disease.
特发性震颤（ET）患者常表现出一系列轻度小脑体征。先前的研究表明，其未受影响的亲属存在细微（即临床前）的疾病特征。为了量化基于震颤严重程度分层的ET患者未受影响的一级亲属中的细微小脑体征。269名ET患者的一级亲属，他们均未报告有震颤或被诊断为ET，且经详细神经系统检查也未被诊断为ET，根据总震颤评分（TTS）分为两组（低TTS组与高TTS组）和四分位数。在神经系统检查中对步态、平衡和意向性震颤的变化进行量化。高TTS组在串联站立任务中的表现更差（P = 0.011）。当分层为TTS四分位数时，较高的四分位数与串联站立（P = 0.011）和双脚并拢站立（P = 0.028）时的较差表现相关。同样，震颤较多的组中，手臂（P = 0.0002）和腿部（P = 0.047）的意向性震颤更高。ET与小脑之间存在多种联系。这些数据提供了有趣的证据，即细微的小脑体征（即平衡和意向性震颤的变化）在震颤较多的ET患者一级亲属中更为普遍（即那些自身可能正处于发展为ET的病程中的人）。这些数据有助于更好地描述该疾病可能的早期亚临床阶段。
