Familial Aggregation of the Cerebellar Signs in Familial Essential Tremor

Tremor and Other Hyperkinetic Movements

article

Elan D. Louis¹  Nora Hernandez¹  Karen P. Chen¹  Kelly V. Naranjo¹  Jemin Park¹  Lorraine N. Clark⁴  Ruth Ottman⁶ 

[1] Division of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University;Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale University;Center for Neuroepidemiology and Clinical Neurological Research, Yale School of Medicine, Yale University;Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University;Department of Pathology and Cell Biology, Columbia University Medical Center;G.H. Sergievsky Center, College of Physicians and Surgeons, Columbia University;Department of Neurology, College of Physicians and Surgeons, Columbia University;Department of Epidemiology, Mailman School of Public Health, Columbia University;Division of Epidemiology, New York State Psychiatric Institute

关键词: Essential tremor;    genetics;    familial;    clinical;   

DOI  :  10.5334/tohm.335

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

Background: 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. Methods: ET probands and relatives enrolled in a genetic study at Yale and Columbia universities underwent a detailed videotaped neurological examination. Results: 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). 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.

【 授权许可】

CC BY