Subtle Cerebellar Features in Relatives of Essential Tremor Cases
Subtle Cerebellar Features in Relatives of Essential Tremor Cases
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DOI：
10.3389/fneur.2020.00605
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发表时间：
2020-07-17
影响因子：
3.4
通讯作者：
Louis, Elan D.
中科院分区：
文献类型：
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作者：
Hale, Evan A.;Hickman, Ruby;Louis, Elan D.
背景：特发性震颤（ET）病例通常表现出一系列轻微的小脑体征。之前的研究表明，他们未受影响的亲属表现出微妙的（即临床前）疾病特征。目的：量化 ET 病例未受影响的一级亲属的细微小脑体征，并根据震颤严重程度进行分层。方法：269 名 ET 病例的一级亲属，均未报告有震颤或诊断为 ET，或根据详细的神经系统检查诊断为 ET，根据总震颤评分 (TTS) 将其分为两组（较低的 TTS 与较高的 TTS）和四分位数。通过神经系统检查量化步态、平衡和意向性震颤的变化。结果：较高的 TTS 在串联站立任务中表现较差 (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) 的较差表现相关。同样，在震颤较多的组中，手臂（p = 0.0002）和腿部（p = 0.047）的意向性震颤较高。讨论：ET 和小脑之间的联系是多重的。这些数据提供了有趣的证据，表明微妙的小脑体征（即平衡和意向性震颤的变化）在震颤较多的 ET 病例的一级亲属（即那些可能正在发展为 ET 的人）中更为普遍。这些数据有助于更好地表征该疾病的早期亚临床阶段。
Background: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. Objective:To quantify subtle cerebellar signs in unaffected first-degree relatives of ET cases stratified based on their tremor severity. Methods: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. Results:Higher TTS performed worse on the tandem stance task (p= 0.011). When stratified into TTS quartiles, higher quartile was associated with worse performance in tandem stance (p= 0.011) and stance with feet together (p= 0.028). Similarly, intention tremor in the arms (p= 0.0002) and legs (p= 0.047) were higher in the groups with more tremor. Discussion: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.