Louis Elan D, Hernandez Nora, Chen Karen P, Naranjo Kelly V, Park Jemin, Clark Lorraine N, Ottman Ruth
Division of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA; Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale University, New Haven, CT, USA; Center for Neuroepidemiology and Clinical Neurological Research, Yale School of Medicine, Yale University, New Haven, CT, USA.
Division of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA.
Tremor Other Hyperkinet Mov (N Y). 2017 Jan 13;7:439. doi: 10.7916/D8KK9C8Q. eCollection 2017.
Although the hallmark feature of essential tremor (ET) is kinetic tremor, patients may exhibit additional motor features (e.g., intention tremor and mild gait ataxia) that are markers of an underlying abnormality of cerebellar function. ET is also a highly familial disorder, but we do not know whether the presence and expression of cerebellar signs are similar across family members. There are simply no published data. The alternative possibility is that these features are not heritable. We tested the specific hypothesis that the presence of cerebellar signs (i.e., intention tremor, tandem gait difficulty) ran in ET families.
ET probands and relatives enrolled in a genetic study at Yale and Columbia universities underwent a detailed videotaped neurological examination.
There were 187 enrollees (59 probands, 128 affected relatives). In a bivariate logistic regression model, the presence of intention tremor in the proband was not a predictor of the presence of intention tremor in the relatives (odds ratio [OR] = 0.60, 95% confidence interval [CI] = 0.28-1.27, p = 0.18). In a similar model, the presence of greater tandem gait difficulty (i.e., a tandem gait score in the upper quartile) in the proband was not a predictor of the presence of such difficulty in the relatives (OR = 1.22, 95% CI = 0.41-3.66, p = 0.73).
The presence of cerebellar signs did not aggregate in families with ET. In the current dataset, these did not seem to be disease features that were heritable.
尽管特发性震颤（ET）的标志性特征是动作性震颤，但患者可能还表现出其他运动特征（如意向性震颤和轻度步态共济失调），这些特征是小脑功能潜在异常的标志。ET也是一种高度家族性疾病，但我们不知道小脑体征的出现和表现在家庭成员中是否相似。根本没有已发表的数据。另一种可能性是这些特征不可遗传。我们检验了一个具体假设，即小脑体征（即意向性震颤、串联步态困难）在ET家族中具有家族聚集性。
在耶鲁大学和哥伦比亚大学参与一项基因研究的ET先证者及其亲属接受了详细的录像神经学检查。
共有187名参与者（59名先证者，128名患病亲属）。在二元逻辑回归模型中，先证者存在意向性震颤并不能预测亲属中是否存在意向性震颤（优势比[OR]=0.60，95%置信区间[CI]=0.28 - 1.27，p = 0.18）。在类似模型中，先证者存在更严重的串联步态困难（即串联步态评分处于上四分位数）并不能预测亲属中是否存在此类困难（OR = 1.22，95% CI = 0.41 - 3.66，p = 0.73）。
小脑体征在ET家族中并不聚集。在当前数据集中，这些体征似乎不是可遗传的疾病特征。
