Patricia B Coutinho, Kara A Johnson, Andreea L Seritan, Nicholas B Galifianakis, Robert Coleman, Doris Wang, Caroline A Racine, Jill L Ostrem, Philip A Starr, Coralie de Hemptinne
{"title":"Elevated Mood Induced by Subthalamic Nucleus Deep Brain Stimulation: A Video-Recorded Case Report.","authors":"Patricia B Coutinho, Kara A Johnson, Andreea L Seritan, Nicholas B Galifianakis, Robert Coleman, Doris Wang, Caroline A Racine, Jill L Ostrem, Philip A Starr, Coralie de Hemptinne","doi":"10.5334/tohm.900","DOIUrl":"10.5334/tohm.900","url":null,"abstract":"<p><strong>Background: </strong>Deep brain stimulation (DBS) can be an effective therapy to control motor signs in patients with Parkinson's disease (PD). However, subthalamic nucleus (STN) DBS can induce undesirable psychiatric adverse effects, including elevated mood.</p><p><strong>Case report: </strong>We reported a video case of a 73-year-old male implanted with bilateral STN DBS who experienced stimulation-induced elevated mood. A correlation between mood changes and enhanced activation of the ventromedial region in the left STN was observed.</p><p><strong>Discussion: </strong>This video case report illustrates STN DBS-induced elevated mood and enhances early symptom recognition for patients and diagnostic awareness for professionals.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"37"},"PeriodicalIF":2.5,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11243764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141617144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Saar Anis, Megan Zelinsky, Umar Shuaib, Emma Hartwig, Melissa Simpson, Hubert H Fernandez, Taylor Rush, Xin Xin Yu
{"title":"Introducing Virtual Shared Medical Appointments as a Novel Treatment Platform for Functional Movement Disorders.","authors":"Saar Anis, Megan Zelinsky, Umar Shuaib, Emma Hartwig, Melissa Simpson, Hubert H Fernandez, Taylor Rush, Xin Xin Yu","doi":"10.5334/tohm.921","DOIUrl":"10.5334/tohm.921","url":null,"abstract":"<p><p>The landscape of medical care has rapidly evolved with technological advancements, particularly through the widespread adoption of virtual appointments catalyzed by the COVID-19 pandemic. This shift has transcended geographical barriers, enhancing access for underserved populations and those with disabilities to specialized healthcare providers. A notable development stemming from this trend is the emergence of virtual shared medical appointments (VSMAs), which integrate group-based education with telemedicine technology. While VSMAs have demonstrated efficacy in conditions such as obesity, diabetes, and neurological disorders, their effectiveness in managing Functional Movement Disorders (FMD) is currently under investigation. FMDs pose unique challenges in diagnosis and acceptance, with high rates of misdiagnosis and treatment delays. VSMAs offer a promising solution by providing educational modules and fostering peer support among patients with similar diagnoses. At the Cleveland Clinic Center for Neurological Restoration, VSMAs have been embraced to enhance care standards for FMD patients. The program facilitates educational sessions and follow-up meetings to improve treatment adherence and psychological well-being. Early outcomes indicate increased patient acceptance and engagement, with significant program growth observed. Ongoing research aims to evaluate stakeholder perspectives and refine session content to further reduce stigma and the healthcare burden associated with FMDs.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"36"},"PeriodicalIF":2.5,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11225864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ariane Veilleux Carpentier, Jason L Chan, Joshua K Wong, Michael S Okun
{"title":"An Eye on the First Surgical Side: Appreciating the Potential Impacts of a Second DBS Lead on Ipsilateral Symptoms.","authors":"Ariane Veilleux Carpentier, Jason L Chan, Joshua K Wong, Michael S Okun","doi":"10.5334/tohm.918","DOIUrl":"10.5334/tohm.918","url":null,"abstract":"<p><strong>Clinical vignette: </strong>A 63-year-old man with severe essential tremor underwent staged bilateral ventralis intermedius (Vim) deep brain stimulation (DBS). Left Vim DBS resulted in improved right upper extremity tremor control. Months later, the addition of right Vim DBS to the other brain hemisphere was associated with acute worsening of the right upper extremity tremor.</p><p><strong>Clinical dilemma: </strong>In staged bilateral Vim DBS, second lead implantation may possibly alter ipsilateral tremor control. While ipsilateral improvement is common, rarely, it can disrupt previously achieved benefit.</p><p><strong>Clinical solution: </strong>DBS programming, including an increase in left Vim DBS amplitude, re-established and enhanced bilateral tremor control.</p><p><strong>Gap in knowledge: </strong>The mechanisms underlying changes in ipsilateral tremor control following a second lead implantation are unknown. In this case, worsening and subsequent improvement after optimization highlight the potential impact of DBS implantation on the ipsilateral side.</p><p><strong>Expert commentary: </strong>After staged bilateral Vim DBS, clinicians should keep an eye on the first or original DBS side and carefully monitor for emergent side effects or worsening in tremor. Ipsilateral effects resulting from DBS implantation present a reprogramming opportunity with a potential to further optimize clinical outcomes.</p><p><strong>Highlights: </strong>This case report highlights the potential for ipsilateral tremor worsening following staged bilateral DBS and provides valuable insights into troubleshooting and reprogramming strategies. The report emphasizes the importance of vigilant monitoring and individualized management in optimizing clinical outcomes for patients undergoing staged bilateral DBS for essential tremor.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"35"},"PeriodicalIF":2.5,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11225553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Susanna D Howard, Shikha Singh, Dominick Macaluso, Iahn Cajigas, Whitley W Aamodt, John T Farrar
{"title":"Validation of the International Classification of Diseases, Tenth Revision-Clinical Modification Diagnostic Code for Essential Tremor.","authors":"Susanna D Howard, Shikha Singh, Dominick Macaluso, Iahn Cajigas, Whitley W Aamodt, John T Farrar","doi":"10.5334/tohm.905","DOIUrl":"10.5334/tohm.905","url":null,"abstract":"<p><strong>Background: </strong>The positive predictive value (PPV) of the <i>International Classification of Diseases, Ninth Revision-Clinical Modification</i> (ICD-9-CM) code for \"essential and other specified forms of tremor\" in identifying essential tremor (ET) cases was found to be less than 50%. The ability of the ICD-10-CM G25.0 code for \"essential tremor\" to identify ET has not been determined. The study objective was to determine the PPV of the G25.0 code.</p><p><strong>Methods: </strong>Patients in a tertiary health system with a primary care encounter associated with ICD-10-CM code G25.0 in 2022 underwent medical record review to determine if the consensus criteria from the International Parkinson and Movement Disorder Society for an ET diagnosis were met.</p><p><strong>Results: </strong>442 patients were included. The PPV of G25.0 in identifying probable ET cases was 74.7% (95% confidence interval (CI) 70.4-78.5%). Among patients prescribed propranolol, the PPV improved to 87.8% (95% CI 78.0-93.6%).</p><p><strong>Discussion: </strong>Compared to the ICD-9-CM code 333.1, G25.0 is superior for identifying ET cases. A potential limitation of this study is that the consensus criteria applied relies on nonspecific physical exam findings which may lead to an overestimation of the PPV of G25.0.</p><p><strong>Highlights: </strong>The ICD-10-CM diagnosis code for essential tremor has not been previously validated. The objective of this study was to determine the PPV of the G25.0 code. The PPV in identifying essential tremor cases was 74.7%. The PPV improved among patients prescribed propranolol.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"34"},"PeriodicalIF":2.5,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11225552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cristiano Sorrentino, Vincenzo Canoro, Maria Russo, Caterina Giordano, Paolo Barone, Roberto Erro
{"title":"Assessing ChatGPT Ability to Answer Frequently Asked Questions About Essential Tremor.","authors":"Cristiano Sorrentino, Vincenzo Canoro, Maria Russo, Caterina Giordano, Paolo Barone, Roberto Erro","doi":"10.5334/tohm.917","DOIUrl":"10.5334/tohm.917","url":null,"abstract":"<p><strong>Background: </strong>Large-language models (LLMs) driven by artificial intelligence allow people to engage in direct conversations about their health. The accuracy and readability of the answers provided by ChatGPT, the most famous LLM, about Essential Tremor (ET), one of the commonest movement disorders, have not yet been evaluated.</p><p><strong>Methods: </strong>Answers given by ChatGPT to 10 questions about ET were evaluated by 5 professionals and 15 laypeople with a score ranging from 1 (poor) to 5 (excellent) in terms of clarity, relevance, accuracy (only for professionals), comprehensiveness, and overall value of the response. We further calculated the readability of the answers.</p><p><strong>Results: </strong>ChatGPT answers received relatively positive evaluations, with median scores ranging between 4 and 5, by both groups and independently from the type of question. However, there was only moderate agreement between raters, especially in the group of professionals. Moreover, readability levels were poor for all examined answers.</p><p><strong>Discussion: </strong>ChatGPT provided relatively accurate and relevant answers, with some variability as judged by the group of professionals suggesting that the degree of literacy about ET has influenced the ratings and, indirectly, that the quality of information provided in clinical practice is also variable. Moreover, the readability of the answer provided by ChatGPT was found to be poor. LLMs will likely play a significant role in the future; therefore, health-related content generated by these tools should be monitored.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"33"},"PeriodicalIF":2.5,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11225576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Christof Degen-Plöger, Annemarie Reincke, Christina Bolte, Carl Alexander Gless, Kerstin Luedtke, Alexander Münchau, Kirsten E Zeuner, Anne Weissbach
{"title":"Individualized Physiotherapy of Upper Body Functional Movement Disorder - Two Illustrative Cases.","authors":"Christof Degen-Plöger, Annemarie Reincke, Christina Bolte, Carl Alexander Gless, Kerstin Luedtke, Alexander Münchau, Kirsten E Zeuner, Anne Weissbach","doi":"10.5334/tohm.895","DOIUrl":"10.5334/tohm.895","url":null,"abstract":"<p><strong>Background: </strong>Information on specialist physiotherapeutic treatment for functional movement disorders is scarce. Previous studies focussed on functional gait disorders and availability of descriptions of the practical application especially for other body regions is very limited.</p><p><strong>Cases: </strong>We present two illustrative cases, demonstrating the key elements of physiotherapy for the treatment of functional movement disorders beyond gait difficulties. The individual applicability of the specific core elements of physiotherapy, adapted to the individual needs of each patient, are described. We also explain, how different sensory stimuli can be used to shift attention away from symptoms and thus reduce them. Moreover, we discuss how patients' agency can be encouraged and how this results in therapy key moments, contributing to a sustained improvement of symptoms.</p><p><strong>Conclusion: </strong>Thus, our case series are intended to guide clinicians and therapists alike, to promote disease-specific physiotherapy for this common and treatable neuropsychiatric disorder.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"29"},"PeriodicalIF":2.5,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11212775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Steven J Frucht, Mary Catherine George, Alexander Pantelyat, Eckart Altenmueller, Alexandra Nmashie, Jocelyn M Jiao, Michael Chen, David Feng, Susan Shin, Michelle C Kaku, David Simpson
{"title":"Incobotulinum Toxin-A in Professional Musicians with Focal Task-Specific Dystonia: A Double Blind, Placebo Controlled, Cross-Over Study.","authors":"Steven J Frucht, Mary Catherine George, Alexander Pantelyat, Eckart Altenmueller, Alexandra Nmashie, Jocelyn M Jiao, Michael Chen, David Feng, Susan Shin, Michelle C Kaku, David Simpson","doi":"10.5334/tohm.903","DOIUrl":"10.5334/tohm.903","url":null,"abstract":"<p><strong>Background: </strong>Musician's focal task-specific dystonia is a complex disorder of fine motor control, with incomplete understanding of its etiology. There have been relatively few trials of botulinum toxin in upper limb task-specific dystonia, and prior studies have yielded variable results, leading to skepticism regarding the utility of this approach in elite performers.</p><p><strong>Methods: </strong>We conducted a double-blind, placebo-controlled, randomized, cross-over study of incobotulinum toxin-A in 21 professional musicians with focal upper extremity task-specific dystonia affecting performance on their instrument, using a novel paradigm of initial injections followed by booster injections at two- and four-week intervals. The primary outcome measure was the change in blinded dystonia rating of the active arm by two expert raters using a Clinical Global Impression numeric scale at week 8 compared to enrollment.</p><p><strong>Findings: </strong>19 men and 2 women with musicians' dystonia were enrolled over a six-year period. Nineteen patients completed the study. Analysis of the primary outcome measure in comparison to baseline revealed a change in dystonia severity of P = 0.04 and an improvement in overall musical performance of P = 0.027. No clinically significant weakness was observed, and neutralizing antibodies to toxin were not found.</p><p><strong>Interpretation: </strong>Despite its small sample size, our study demonstrated a statistically significant benefit of incobotulinum toxin-A injections as a treatment for musicians' task-specific dystonia. Tailoring the use of toxin with booster injections allowed refinement of dosing strategy and outcomes, with benefits that were meaningful to patients clearly visible on videotaped evaluations. In addition to its application to musicians' dystonia, this approach may have relevance to optimize application of botulinum toxin in other forms of focal dystonia such as blepharospasm, cervical dystonia, writer's cramp, and spasmodic dysphonia.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"32"},"PeriodicalIF":2.5,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11212776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Tremor in Spinocerebellar Ataxia: A Scoping Review.","authors":"Adreesh Mukherjee, Sanjay Pandey","doi":"10.5334/tohm.911","DOIUrl":"10.5334/tohm.911","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia (SCA) denotes an expanding list of autosomal dominant cerebellar ataxias. Although tremor is an important aspect of the clinical spectrum of the SCAs, its prevalence, phenomenology, and pathophysiology are unknown.</p><p><strong>Objectives: </strong>This review aims to describe the various types of tremors seen in the different SCAs, with a discussion on the pathophysiology of the tremors, and the possible treatment modalities.</p><p><strong>Methods: </strong>The authors conducted a literature search on PubMed using search terms including tremor and the various SCAs. Relevant articles were included in the review after excluding duplicate publications.</p><p><strong>Results: </strong>While action (postural and intention) tremors are most frequently associated with SCA, rest and other rare tremors have also been documented. The prevalence and types of tremors vary among the different SCAs. SCA12, common in certain ethnic populations, presents a unique situation, where the tremor is typically the principal manifestation. Clinical manifestations of SCAs may be confused with essential tremor or Parkinson's disease. The pathophysiology of tremors in SCAs predominantly involves the cerebellum and its networks, especially the cerebello-thalamo-cortical circuit. Additionally, connections with the basal ganglia, and striatal dopaminergic dysfunction may have a role. Medical management of tremor is usually guided by the phenomenology and associated clinical features. Deep brain stimulation surgery may be helpful in treatment-resistant tremors.</p><p><strong>Conclusions: </strong>Tremor is an elemental component of SCAs, with diverse phenomenology, and emphasizes the role of the cerebellum in tremor. Further studies will be useful to delineate the clinical, pathophysiological, and therapeutic aspects of tremor in SCAs.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"31"},"PeriodicalIF":2.5,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11192095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141443386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cheryl S J Everlo, Marina A J Tijssen, A M Madelein Van Der Stouwe
{"title":"Testing for Alcohol Responsiveness in Familial Essential Tremor.","authors":"Cheryl S J Everlo, Marina A J Tijssen, A M Madelein Van Der Stouwe","doi":"10.5334/tohm.923","DOIUrl":"10.5334/tohm.923","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) is the most common movement disorder in adults and is considered to be highly heritable. A reduction of the tremor amplitude after alcohol consumption is reported in approximately half of the patients. In this study, we describe the alcohol response in our familial ET cohort by employing an alcohol responsivity test designed by Knudsen et al. outside its original research group for the first time.</p><p><strong>Methods: </strong>We recruited families with at least three trembling family members and confirmed ET diagnoses. During the in-hospital alcohol responsivity test, tremor was measured using Archimedes spirals before alcohol consumption (T0), one hour after alcohol intake (T1), and the next morning (T2). The spirals were rated by two independent raters using the Bain Findley scale. The average of these two scores was calculated as the Archimedes Spiral Rating (ASR) for each time point.</p><p><strong>Results: </strong>Twenty-four confirmed ET patients were included for analysis. The median ASR at T0 (5.0) and T2 (4.75) were significantly higher than the median ASR at T1 (3.25) (both p < 0.001). In 67% of patients, a difference in ASR between T0 and T1 (dASR) ≥ 2 pointed towards an improvement of tremor after consuming alcohol.</p><p><strong>Discussion: </strong>We confirmed that the alcohol responsiveness test of Knudsen et al. is useful in determining objective alcohol responsivity. We established a significantly reduced ASR after alcohol consumption in 67% of familial ET patients in our cohort. In the future, a larger population is needed to establish whether familial aggregation of alcohol responsivity occurs in essential tremor patients.</p><p><strong>Highlights: </strong>The test designed by Knudsen et al. effectively established objective alcohol responsiveness outside its original research group.We found an objective alcohol response in 67% of our familial ET cohort.Subjective VAS scores were significantly lower after alcohol consumption.There was no correlation between the objective and subjective alcohol responsiveness.Familial aggregation of alcohol responsiveness in ET should be studied in a larger cohort.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"30"},"PeriodicalIF":2.2,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11177841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.","authors":"Weili Luo, Xiaosheng Zheng, Zhiru Lin, Wei Luo","doi":"10.5334/tohm.889","DOIUrl":"10.5334/tohm.889","url":null,"abstract":"<p><strong>Background: </strong>The tremor characteristics of patients with spinocerebellar ataxia 12 (SCA12) are often likened to those in patients with essential tremor (ET); however, data are sparse, and videotaped tremor examinations are rare.</p><p><strong>Case report: </strong>A 37-year-old woman with progressive hand and head tremors underwent genetic testing after conventional diagnostics failed to explain her symptoms. A <i>PPP2R2B</i> variation confirmed spinocerebellar ataxia type 12 (SCA12), a condition not previously considered because classical cerebellar signs were absent. The tremor characteristics of this patient differed in numerous respects from those seen in patients with ET.</p><p><strong>Discussion: </strong>Although often likened to ET, under careful scrutiny, the tremor characteristics observed in this patient with SCA12 were inconsistent with those typically seen in ET. Such discrepancies highlight the necessity of careful phenotyping for tremor disorders, particularly in familial cases. Recognizing the specific tremor phenomenology of SCA12 and distinguishing it from ET is crucial to avoid misdiagnosis and to guide appropriate management and familial counseling.</p><p><strong>Highlights: </strong>This report characterizes in detail an early-stage SCA12 patient initially misdiagnosed as essential tremor, underscoring the importance of nuanced clinical assessment and genetic testing in atypical tremor cases. Similar patients should be meticulously phenotyped to prevent misclassification and enhance our understanding of tremor pathophysiology.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"28"},"PeriodicalIF":2.2,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11160389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141296775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}