Subtle Cerebellar Features in Relatives of Essential Tremor Cases.

Background: Essential tremor (ET) cases often exhibit a range of mild cerebellar signs. Their unaffected relatives have been shown in prior studies to exhibit subtle (i.e., preclinical) disease features. Objective: To quantify subtle cerebellar signs in unaffected first-degree relatives of ET cases stratified based on their tremor severity. Methods: Two hundred sixty-nine first-degree relatives of ET cases, none of whom reported tremor or a diagnosis of ET, or were diagnosed with ET based on detailed neurological examination, were stratified based on total tremor score (TTS) into two groups (lower TTS vs. higher TTS) and quartiles. Changes in gait, balance, and intention tremor were quantified on neurological examination. Results: Higher TTS performed worse on the tandem stance task (p = 0.011). When stratified into TTS quartiles, higher quartile was associated with worse performance in tandem stance (p = 0.011) and stance with feet together (p = 0.028). Similarly, intention tremor in the arms (p = 0.0002) and legs (p = 0.047) were higher in the groups with more tremor. Discussion: The links between ET and the cerebellum are multiple. These data provide intriguing evidence that subtle cerebellar signs (i.e., changes in balance and intention tremor) are more prevalent among first-degree relatives of ET cases with more tremor (i.e., those who may be themselves on the pathway to developing ET). These data contribute to a better characterization of what may be an early subclinical stage of the disease.

Severe Essential Tremor: Illustrative Videos.

Background: Essential tremor (ET) can be profoundly disabling in severe cases; however, such cases may not often be encountered by general practitioners, primary care physicians, or general neurologists, leading to misdiagnosis. Phenomenology shown: Severe kinetic, postural, and intention tremors in patients with ET. Educational value: To provide visual examples of severe, long-standing ET for general practitioners, primary care clinicians, and general neurologists.

Under-Recognition of Cervical Dystonia: An Essential Tremor Patient with Numerous Textbook Features of Cervical Dystonia.

Background: Physical examination findings of dystonia are often underrecognized, especially in the setting of other movement disorders such as essential tremor (ET). Phenomenology Shown: A patient with ET exhibited numerous textbook features of cervical dystonia, which were misattributed to ET by a primary care physician and two neurologists. Educational Value: To provide a clear and unmistakable visual example of the clinically significant characteristics of cervical dystonia in the setting of concomitant ET.