FD-ET reported more near-falls in the past year and a reduction in balance confidence; additionally, ability to maintain tandem stance was impaired compared to Co. These data suggest a more pervasive abnormality of cerebellar dysfunction than previously conceived, extending beyond ET cases themselves and manifesting in mild form in their unaffected family members.

Background: The burden of mild (i.e., subclinical) tremor within essential tremor (ET) families is not fully understood. We assessed the burden of mild tremor in a cohort of 287 adults, none of whom reported tremor or were diagnosed with ET. Methods: We recruited adults in 2 groups based on the familial risk for ET: 244 high-risk individuals (i.e., reporting one or more first-degree relative with ET) and 43 low-risk individuals (i.e., reporting no relatives with ET). Tremor was objectively assessed on 4 hand-drawn spirals (total spiral score = 0–12). Mild tremor was defined using 3 different cut points. Results: The prevalence rates of mild tremor among high-risk individuals ranged from 41.4 to 98.4% and were highly dependent on the cut point. Above a certain threshold (i.e., a total spiral score ≥5), 1-in-5 (i.e., 19.7%) high-risk individuals exhibited mild tremor, whereas no low-risk individuals did. High-risk individuals were 3.09–4.50 times more likely than low-risk individuals to exhibit mild tremor. Conclusion: The burden of ET extends beyond the boundaries of the clinically defined disease, and partially expressed forms of ET are abundant in ET families. This fact greatly complicates gene-finding studies and epidemiological studies whose goal is to detect disease-linked associations.

Introduction: Essential tremor (ET) is a common neurological disorder associated with functional impairment. Emerging evidence shows that some ET caregivers experience burden, but the unique interpersonal aspects of caregiving in the context of ET have not been fully examined. Research design: Open-ended questions were administered to 98 ET care-recipient–caregiver dyads. Responses were analyzed using conventional content analysis. Results: The unique visibility of disability and feelings of embarrassment that occur with ET prompts caregivers to be highly attuned to care-recipient emotions. Providing companionship, promoting independence, and reducing embarrassment are three themes we found that describe the ET caregiving experience. Discussion: Caregiving in ET often goes beyond aiding with activities of daily living; it has a significant emotional component especially in relation to independence and embarrassment. Future studies on caregiving in ET and conditions in which disability is visible should consider using a definition of caregiving that includes emotional caregiving.

Introduction: Despite a growing body of knowledge regarding essential tremor (ET), past studies have fallen short in capturing the full impact of ET on patients and caregivers. We propose enfeeblement (i.e., having the qualities of being prematurely old, helpless, or debilitated) as a novel clinical outcome measure in ET. Due to the lack of enfeeblement scales for ET in the literature, we developed and validated an enfeeblement scale for ET. Methods: The Essential Tremor Enfeeblement Survey (ETES) consists of eight 5-point Likert-type scale questions and is designed to be a caregiver-reported outcome. Results: Enfeeblement scores showed a floor effect of 15.3%, no ceiling effects, and demonstrated good overall test-retest reliability (intraclass correlation coefficient ¼ 0.73), favorable internal consistency (Cronbach a coefficient ¼ 0.92) and good convergent validity. Conclusion: The ETES has robust properties. Aside from future studies of enfeeblement in ET, enfeeblement should be explored more broadly as a psychometric measure across other neurological disorders.

Background: In numerous case-control studies, essential tremor (ET) has been associated with cognitive impairment. ET is often familial. However, cognitive impairment has not been studied in family members of ET cases. Endophenotypes are measurable clinical characteristics that may be present in individuals with increased risk for disease; as such, they may be present before disease onset. We administered a global cognitive screen to first-degree relatives of ET cases (FD-ET) and age-matched controls (Co). Methods: We administered the Montreal Cognitive Assessment (MoCA) to 156 FD-ET and 73 Co, none of whom were diagnosed with ET or reported tremor. MoCA <26 was considered suggestive of cognitive impairment.