G.H. Sergievsky Center, New York, N.Y., USA.
Neuroepidemiology. 2013;41(1):48-53. doi: 10.1159/000348553. Epub 2013 May 25.
Essential tremor (ET) is often familial and phenotypic features may be shared within families. Cranial (neck, voice, and jaw) tremor is an important feature of ET. We examined whether cranial tremor aggregates in ET families, after controlling for other factors (age, tremor severity, and duration).
Among ET probands and relatives enrolled in a genetic study at Columbia University (95 subjects in 28 families), we assessed the degree to which occurrence of cranial tremor in the proband predicted occurrence of cranial tremor in affected relatives.
Forty-five (47.4%) subjects had cranial tremor on neurological examination (probands 66.7%, relatives 39.7%). Among 28 families, 23 (82.1%) contained individuals with and individuals without cranial tremor, indicating a high degree of within-family heterogeneity. In comparison to subjects without cranial tremor, those with cranial tremor had higher total tremor scores (p < 0.001), were older (p = 0.003), and had tremor of longer duration (p = 0.01). In logistic regression models, the odds of cranial tremor in a relative were not related to occurrence of cranial tremor in the proband (p > 0.24).
Cranial tremor did not aggregate in families with ET; the major predictor of this disease feature was tremor severity rather than presence of cranial tremor in another family member.
特发性震颤（ET）通常具有家族遗传性，并且在家族内可能存在相似的表型特征。头部（颈部、声音和下巴）震颤是 ET 的一个重要特征。我们研究了在控制其他因素（年龄、震颤严重程度和持续时间）后，ET 家族中是否存在头部震颤聚集现象。
在哥伦比亚大学进行的一项遗传学研究中，我们评估了 ET 先证者及其亲属（95 名受试者，28 个家族）中，先证者头部震颤的发生是否可以预测其亲属的头部震颤发生。
在神经学检查中，45 名（47.4%）受试者存在头部震颤（先证者 66.7%，亲属 39.7%）。在 28 个家族中，有 23 个（82.1%）家族存在既有头部震颤又无头部震颤的个体，表明家族内存在高度异质性。与无头部震颤的受试者相比，有头部震颤的受试者总震颤评分更高（p<0.001），年龄更大（p=0.003），震颤持续时间更长（p=0.01）。在逻辑回归模型中，亲属发生头部震颤的可能性与先证者是否发生头部震颤无关（p>0.24）。
ET 家族中头部震颤并未聚集；该疾病特征的主要预测因素是震颤严重程度，而不是家族中其他成员存在头部震颤。
