Clinical Classification of Borderline Cases in the Family Study of Essential Tremor: An Analysis of Phenotypic Features

Tremor and Other Hyperkinetic Movements

article

Elan D. Louis¹  Ruth Ottman¹  Lorraine N. Clark³ 

[1] G.H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, United States of America;Department of Neurology, College of Physicians and Surgeons, Columbia University, United States of America;Taub Institute for Research on Alzheimer’s Diseaseand the Aging Brain, College of Physicians and Surgeons, Columbia University, United States of America;Department of Epidemiology, Mailman School of Public Health, Columbia University, United States of America;Division of Epidemiology, New York State PsychiatricInstitute, United States of America;Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, United States of America

关键词: Essential tremor;    classification;    genetic;    clinical;    epidemiology;   

DOI  :  10.5334/tohm.191

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

Background: In genetic research on essential tremor (ET), certain individuals may be particularly challenging to categorize diagnostically. Methods: In the Family Study of Essential Tremor (.200 enrollees), 28 participants with borderline clinical findings who did not meet strict criteria for ET were assigned final diagnoses of ET. We scrutinized the clinical features of these cases and the sensitivity/specificity of certain features that best separated them from 19 unaffected individuals. Results: Borderline ET cases differed from unaffected individuals in eight features: total tremor score, at least one kinetic tremor rating >1.5, at least one kinetic tremor rating >1.5 in the dominant arm, tremor rating during spiral drawing >1.5, higher spiral axis score, head tremor, complaint of tremor, and comment on tremor by others. The combination of at least one kinetic tremor rating >1.5 in the dominant arm and the presence of at least three of the remaining seven features predicted the clinician-assigned diagnosis in 88.6% of borderline ET vs. unaffected individuals (sensitivity 84.6%, specificity 94.4%). Discussion: In a family study, a small number of clinical features characterized borderline ET, and a particular combination of these separated the majority of these borderline cases from normals. These analyses may help researchers minimize diagnostic misclassification.

【 授权许可】

CC BY