Tremor and Other Hyperkinetic Movements最新文献

{"title":"A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia.","authors":"Alissa S Higinbotham,&nbsp;Suzanne D DeBrosse,&nbsp;Camilla W Kilbane","doi":"10.5334/tohm.783","DOIUrl":"10.5334/tohm.783","url":null,"abstract":"<p><strong>Background: </strong>Epsilon-sarcoglycan (SGCE) myoclonus-dystonia is autosomal dominant (AD) with reduced penetrance due to maternal imprinting 95% of the time. Patients may lack family history delaying diagnosis and treatment. Additionally, counseling patients on their risk of passing on the variant differs for females versus males.</p><p><strong>Case report: </strong>A woman in her thirties with typical phenotype of myoclonus-dystonia but lacking an AD pedigree was found to have a pathogenic variant in the SGCE gene. She was counseled that her daughters each have a 2.5% chance of expressing the phenotype.</p><p><strong>Discussion: </strong>Understanding the genetics of SGCE-myoclonus-dystonia enables effective genetic counseling and arrival at a timely diagnosis and treatment.</p><p><strong>Summary: </strong>In an era of advancing genetic analysis and precision medicine-based treatments, neurologists will be faced with increasing responsibility to properly counsel patients on the results of genetic testing. This case highlights a genetics pearl for counseling patients with epsilon-sarcoglycan myoclonus-dystonia, an autosomal dominant condition with penetrance differing by sex.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453946/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10176745","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":"Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.","authors":"Christel Depienne, Sorana Ciura, Oriane Trouillard, Delphine Bouteiller, Elsa Leitão, Caroline Nava, Boris Keren, Yannick Marie, Justine Guegan, Sylvie Forlani, Alexis Brice, Mathieu Anheim, Yves Agid, Paul Krack, Philippe Damier, François Viallet, Jean-Luc Houeto, Franck Durif, Marie Vidailhet, Yulia Worbe, Emmanuel Roze, Edor Kabashi, Andreas Hartmann","doi":"10.5334/tohm.792","DOIUrl":"10.5334/tohm.792","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.5334/tohm.464.].</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9881489","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":"Cognitive Performance as a Function of MAPT Haplotype: A Prospective Longitudinal Study of an Essential Tremor Cohort.","authors":"Ali Ghanem, Diane S Berry, Kurt Farrell, Stephanie Cosentino, John F Crary, Elan D Louis","doi":"10.5334/tohm.768","DOIUrl":"10.5334/tohm.768","url":null,"abstract":"<p><strong>Background: </strong>Cognitive impairment is a feature of essential tremor (ET). There are no studies of the genetic drivers of this association. We examined whether the microtubule-associated protein tau (MAPT) H1 haplotype is associated with cognitive performance in ET.</p><p><strong>Methods: </strong>ET cases genotyped for the MAPT H1 and H2 haplotypes completed a battery of neuropsychological tests at baseline and four follow-up evaluations. Chi-square, t-tests, and analyses of covariance examined associations between the presence of the MAPT H1 haplotype, cognitive diagnoses of normal, mild cognitive impairment (MCI), and dementia, and performance in specific cognitive domains.</p><p><strong>Results: </strong>We observed no evidence of cognitive differences as a function of the presence of the MAPT H1 haplotype. Specifically, cases with (n = 57) and without (n = 42) this haplotype did not differ with respect to the prevalence of diagnoses of MCI or dementia, <i>p</i> ≥ 0.87. Moreover, cases with vs without this haplotype did not differ in either the age or point in the disease course at which observed conversions to MCI or dementia occurred, <i>p</i>'s ≥ 0.51. Finally, no haplotype-related differences were observed in performance in the cognitive domains of attention, executive function, language, memory, visuospatial or global ability, <i>p</i>'s ≥ 0.21, or in changes in performance in these domains across time, <i>p</i>'s ≥ 0.08.</p><p><strong>Discussion: </strong>The study in an ET cohort revealed no influence of MAPT haplotypes on cognitive performance. This study serves as a valuable foundation for future studies to expand our understanding of the genetic drivers of cognitive impairment in ET.</p><p><strong>Highlights: </strong>This study found no evidence of cognitive differences between individuals with and without the MAPT H1 haplotype. Our work provides a valuable foundation for future work to expand our knowledge of the genetic drivers of cognitive impairment in ET.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10198222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9687007","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":"Vitamin D and Restless Legs Syndrome: A Review of Current Literature.","authors":"Katie L J Cederberg, Rosalia Silvestri, Arthur S Walters","doi":"10.5334/tohm.741","DOIUrl":"10.5334/tohm.741","url":null,"abstract":"<p><p>This review presents a detailed summary of the current literature regarding RLS and vitamin D deficiency. To our knowledge it is the first review of its kind. We review the prevalence of vitamin D deficiency in RLS as well as the evidence for the use of vitamin D supplementation in RLS management. We further examine the literature for proteomic and genetic evidence of a role for vitamin D in the pathogenesis of RLS. An alteration in vitamin D binding protein in RLS is one of the most consistent findings in the proteomic studies. Furthermore, we examine the interaction of vitamin D with calcium, phosphorus, and parathyroid hormone and the possible role of these connections in RLS. We also explore the possible nexus between RLS and vitamin D in renal disease, cardiovascular and cerebrovascular disease as well as inflammation. In addition, we review the potential interaction between vitamin D and RLS with iron, dopamine and other neurotransmitter systems including the endogenous opiate, serotoninergic, glutamatergic and adenosinergic systems. We also explore the role of vitamin D in RLS Augmentation (i.e., the paradoxical worsening of RLS symptoms when dopaminergic agents are used as a therapy for RLS). Although the literature is not entirely consistent in affirming vitamin D deficiency in RLS or the amelioration of RLS symptoms with vitamin D therapy, the collective studies overall indicate that vitamin D deficiency is common enough in RLS patients to suggest that RLS patients should have their vitamin D levels checked and any deficiency corrected as a standard of care. <b>Highlights</b>  Patients with Restless Legs Syndrome (RLS) may be deficient in vitamin D and therapy with vitamin D may ameliorate RLS. We present the first review dedicated solely to evaluating the relationship between RLS and vitamin D and present a case for the role of vitamin D in RLS pathogenesis.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10077981/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9741019","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":"Peripherally-induced Movement Disorders: An Update.","authors":"Abhishek Lenka, Joseph Jankovic","doi":"10.5334/tohm.758","DOIUrl":"10.5334/tohm.758","url":null,"abstract":"<p><strong>Background: </strong>Peripherally-induced movement disorders (PIMD) should be considered when involuntary or abnormal movements emerge shortly after an injury to a body part. A close topographic and temporal association between peripheral injury and onset of the movement disorders is crucial to diagnosing PIMD. PIMD is under-recognized and often misdiagnosed as functional movement disorder, although both may co-exist. Given the considerable diagnostic, therapeutic, and psychosocial-legal challenges associated with PIMD, it is crucial to update the clinical and scientific information about this important movement disorder.</p><p><strong>Methods: </strong>A comprehensive PubMed search through a broad range of keywords and combinations was performed in February 2023 to identify relevant articles for this narrative review.</p><p><strong>Results: </strong>The spectrum of the phenomenology of PIMD is broad and it encompasses both hyperkinetic and hypokinetic movements. Hemifacial spasm is probably the most common PIMD. Others include dystonia, tremor, parkinsonism, myoclonus, painful leg moving toe syndrome, tics, polyminimyoclonus, and amputation stump dyskinesia. We also highlight conditions such as neuropathic tremor, pseudoathetosis, and <i>MYBPC1</i>-associated myogenic tremor as examples of PIMD.</p><p><strong>Discussion: </strong>There is considerable heterogeneity among PIMD in terms of severity and nature of injury, natural course, association with pain, and response to treatment. As some patients may have co-existing functional movement disorder, neurologists should be able to differentiate the two disorders. While the exact pathophysiology remains elusive, aberrant central sensitization after peripheral stimuli and maladaptive plasticity in the sensorimotor cortex, on a background of genetic (two-hit hypothesis) or other predisposition, seem to play a role in the pathogenesis of PIMD.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064913/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9690790","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":"Late-Onset Tay-Sachs Disease - expanding the clinical phenotype.","authors":"Stela Lefter,&nbsp;Aisling M Ryan","doi":"10.5334/tohm.750","DOIUrl":"https://doi.org/10.5334/tohm.750","url":null,"abstract":"","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896992/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9423403","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":"Non-Invasive Transcutaneous Afferent Patterned Stimulation Therapy Offers Action Tremor Relief in Parkinson's Disease.","authors":"Salima Brillman,&nbsp;Pravin Khemani,&nbsp;Stuart H Isaacson,&nbsp;Rajesh Pahwa,&nbsp;Ruta Deshpande,&nbsp;Vivien Zraick,&nbsp;Apoorva Rajagopal,&nbsp;Dhira Khosla,&nbsp;Kathryn H Rosenbluth","doi":"10.5334/tohm.762","DOIUrl":"https://doi.org/10.5334/tohm.762","url":null,"abstract":"<p><strong>Background: </strong>Many patients with Parkinson's disease (PD) experience action tremor (including postural and kinetic tremors) that impair activities of daily living. Transcutaneous afferent patterned stimulation (TAPS) is a non-invasive neuromodulation therapy that modulates tremorgenic activity at the ventral intermediate nucleus (VIM). Most TAPS evidence evaluated relief of action tremor associated with essential tremor (ET). This study evaluated whether TAPS results in similar relief of action tremor associated with PD.</p><p><strong>Methods: </strong>Forty PD patients with action tremors were enrolled in a prospective, single-arm, open-label study with four weeks of unsupervised at-home TAPS sessions in the dominant hand twice daily in between supervised TAPS sessions at two telemedicine appointments. The primary endpoint was change in tremor power as measured by the on-board accelerometer before and immediately after a stimulation session. Additional study endpoints included change in Movement Disorder Society-Sponsored Unified Parkinson's Disease Rating Scale Part III (MDS-UPDRS), change in Bain and Findley Activities of Daily Living (BF-ADL) scale, and clinician and patient global impressions of improvement (CGI-I and PGI-I).</p><p><strong>Results: </strong>TAPS reduced tremor power by 64% (54%-79%) (median (interquartile range), <i>p</i> < 0.001), with 79% of patients experiencing at least 50% reduction. When comparing pre-stimulation scores at visit 1 to post-stimulation scores at visit 2, TAPS improved per-task MDS-UPDRS III ratings of postural and kinetic tremors (0.6 ± 0.5, t(34) = 7.05, <i>p</i> < 0.001) and per-task patient-ratings of BF-ADL ADL upper limb motion ratings (0.5 ± 0.5, t(34) = 5.69, <i>p</i> < 0.001). Clinicians reported improvement in 78-83% of patients and 75-80% of patients reported improvement. Adverse events, most commonly skin reaction at the stimulation site, occurred in 18% of patients.</p><p><strong>Conclusion: </strong>Objective, clinician-rated, and patient-rated assessments demonstrated that TAPS provided clinically meaningful relief of action tremor in patients with PD.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10176746","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":"Restless Legs Syndrome in Chronic Kidney Disease- a Systematic Review.","authors":"Yasaman Safarpour,&nbsp;Nosratola D Vaziri,&nbsp;Bahman Jabbari","doi":"10.5334/tohm.752","DOIUrl":"https://doi.org/10.5334/tohm.752","url":null,"abstract":"<p><strong>Objectives: </strong>The objective of this review is to provide updated information on the epidemiology, correlating factors and treatment of chronic kidney disease associated restless legs syndrome (CKD-A-RLS) in both adult and pediatric population.</p><p><strong>Materials and methods: </strong>We have reviewed the Medline search and Google Scholar search up to May 2022, using key words restless legs syndrome, chronic kidney disease and hemodialysis and kidney transplant. The reviewed articles were studied for epidemiology, correlating factors, as well as pharmacologic and non-pharmacologic treatment options.</p><p><strong>Results: </strong>Our search revealed 175 articles, 111 were clinical trials or cross- sectional studies and 64 were review articles. All 111 articles were retrieved and studied in detail. Of these, 105 focused on adults and 6 on children. A majority of studies on dialysis patients reported a prevalence between 15-30%, which is notably higher than prevalence of RLS in general population (5-10%). The correlation between presence of CKD-A-RLS with age, gender, abnormalities of hemogram, iron, ferritin, serum lipids, electrolytes and parathyroid hormones were also reviewed. The results were inconsistent and controversial. Limited studies have reported on the treatment of CKD-A-RLS. Non-pharmacological treatment focused on the effect(s) of exercise, acupuncture, massage with different oils and infra-red light whereas, pharmacologic treatment options include the effects of dopaminergic drugs, Alpha2-Delta ligands (gabapentin and pregabalin), vitamins E and C, and intravenous iron infusion.</p><p><strong>Conclusion: </strong>This updated review showed that RLS is two to three times more common in patients with CKD compared to the general population. More patients with CKD-A-RLS demonstrated increased mortality, increased incidence of cardiovascular accident, depression, insomnia and impaired quality of life than those with CKD without RLS. Dopaminergic drugs such as levodopa, ropinirole, pramipexole and rotigotine as well as calcium channel blockers (gabapentin and pregabalin) are helpful for treatment of RLS. High quality studies with these agents are currently underway and hopefully confirm the efficacy and practicality of using these drugs in CKD-A-RLS. Some studies have shown that aerobic exercise and massage with lavender oil can improve symptoms of CKD-A- RLS suggesting that these measures can be useful as adjunct therapy.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9690789","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":"Eye-Closure Rate Modulation in Blepharospasm.","authors":"Panagiotis Kassavetis,&nbsp;Ejaz A Shamim,&nbsp;Kranz Gottfried,&nbsp;Mark Hallett","doi":"10.5334/tohm.748","DOIUrl":"https://doi.org/10.5334/tohm.748","url":null,"abstract":"<p><strong>Background: </strong>Blepharospasm (BSP) is a type of focal dystonia and a number of patients with BSP have relatives also affected by BSP. The objective of this study was to quantify eye closure rates during activities of daily living in individuals with BSP and individuals without BSP with and without a first-degree relative with BSP.</p><p><strong>Methods: </strong>37 patients with BSP (BSP group), 10 asymptomatic volunteers with a first-degree relative with BSP (RELATIVES group) and 25 asymptomatic volunteers without relatives with BSP (HV group) were recruited. The number of eye closures for each task were counted per 60 seconds, with a video recording. Within and between groups statistical comparisons of eye-closure rates were performed.</p><p><strong>Results: </strong>The eye-closure rates of the RELATIVES group were not different from the BSP group for the majority of the tasks (except for watching television), and the HV group (for all tasks). The rate of eye closures in the BSP group compared to HV, was significantly increased in two tasks, resting and watching television.</p><p><strong>Discussion: </strong>Eye closure rate varies considerably during activities of daily living in all groups. Individuals with first degree relative with BSP are more likely to have increased eye closure rate at rest.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10176741","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":"Deep Brain Stimulation for the Treatment of Hemichorea: Case Series and Literature Review.","authors":"Zihan Masood,&nbsp;Joseph S Domino,&nbsp;Antonia Gragg,&nbsp;Kim Burchiel,&nbsp;Michael Kinsman,&nbsp;Vibhash D Sharma","doi":"10.5334/tohm.765","DOIUrl":"https://doi.org/10.5334/tohm.765","url":null,"abstract":"<p><strong>Background: </strong>Hemichorea (HC) and its severe form hemiballismus (HB) are rare movement disorders which can be medically refractory to treatments and may need surgical intervention.</p><p><strong>Case report: </strong>We report 3 patients with HC-HB who had meaningful clinical improvement with unilateral deep brain stimulation (DBS) of the globus pallidus interna (GPi). We identified 8 prior cases of HC-HB treated with GPi-DBS, and a majority of these patients experienced significant improvement in their symptoms.</p><p><strong>Discussion: </strong>GPi-DBS can be considered in medically refractory HC-HB in carefully selected patients. However, data is limited to small case series and further studies are needed.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10275341/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9686015","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}