ArticleTremor and other hyperkinetic movements (New York, N.Y.)2017
Familial Aggregation of the Cerebellar Signs in Familial Essential Tremor.
Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 4 citations in OpenAlex.
- Cerebellar oscillations driven by synaptic pruning deficits of cerebellar climbing fibers contribute to tremor pathophysiology.Science translational medicine · 2020Article
- Comparative Burden of Subclinical Tremor in a Cohort of Normal Individuals Stratified by Familial Risk for Essential Tremor.Neuroepidemiology · 2018Article
- Genetic Testing Preferences of Individuals in Families with Essential Tremor.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Article
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Authors and funding
7 authors at 4 institutions in 3 countries.
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Abstract
backgroundAlthough 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.
methodsET probands and relatives enrolled in a genetic study at Yale and Columbia universities underwent a detailed videotaped neurological examination.
resultsThere 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). DISCUSSION: 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.
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