Tremor and Other Hyperkinetic Movements最新文献

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Developing a Staging Scheme for Essential Tremor: A Discussion of Organizing Principles. 特发性震颤分期方案的制定:组织原则的讨论。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2023-11-07 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.812
Abhishek Lenka, Elan D Louis
{"title":"Developing a Staging Scheme for Essential Tremor: A Discussion of Organizing Principles.","authors":"Abhishek Lenka, Elan D Louis","doi":"10.5334/tohm.812","DOIUrl":"10.5334/tohm.812","url":null,"abstract":"<p><p>Essential tremor (ET) is a chronic, progressive neurological disease that may negatively affect patients' lives. While there has been considerable progress in ET research, some fundamental issues remain unaddressed. One such issue is <i>disease staging</i>. Staging schemes have inherent value and are part of the dialogue that clinicians have with other movement disorders patients. We highlight the value of and challenges with developing a staging system for ET and organize a discussion around the potential steps in developing such a system. Diseases for which there are staging schemes generally have a number of shared characteristics. ET has numerous features that would lend themselves to a staging scheme: emerging evidence supporting the existence of a premotor phase of disease, insidious onset, progressive worsening of arm tremor, spread of tremor to other body regions, the observation that patients seem to be at increased risk for other conditions within the same organ (i.e., emergence of Parkinson's disease and Alzheimer's disease in excessive numbers of ET patients), pathological changes in the cerebellum whose evolution can be ordered from (i) those that compromise the physical integrity and physiological function of Purkinje cells, (ii) subsequent changes that are reparative and regenerative, and (iii) eventual cell death. Challenges to formulating a staging scheme are the absence of both a biological marker and an \"end stage\" of disease. The sum of combined evidence suggests that a staging scheme would be of value. We provide initial thoughts as to how to begin to structure such a staging scheme.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10637291/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89719694","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}
引用次数: 0
Hypertrophy of the Spinalis Cervicis Muscle in Cervical Dystonia. 颈肌张力障碍中的颈棘肌肥大。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2023-11-07 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.811
Sebastian Loens, Tobias Boppel, Tobias Bäumer
{"title":"Hypertrophy of the Spinalis Cervicis Muscle in Cervical Dystonia.","authors":"Sebastian Loens, Tobias Boppel, Tobias Bäumer","doi":"10.5334/tohm.811","DOIUrl":"10.5334/tohm.811","url":null,"abstract":"<p><strong>Background: </strong>Botulinum neurotoxin A (BoNT) is the first line treatment for cervical dystonia (CD) and treatment outcome significantly depends on the correct identification of the muscles involved.</p><p><strong>Phenomenology shown: </strong>In a case with insufficient response to BoNT treatment further work up with magnetic resonance imaging (MRI) of the neck revealed a hypertrophic spinalis cervicis muscle, that is not commonly involved in CD.</p><p><strong>Educational value: </strong>This highlights the use of MRI for muscle selection in treatment refractory CD cases.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10637288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89719695","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}
引用次数: 0
Proceedings of the Eleventh International Meeting on Neuroacanthocytosis Syndromes. 第十一届神经棘细胞增多症综合征国际会议论文集。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2023-11-03 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.826
Lars Kaestner
{"title":"Proceedings of the Eleventh International Meeting on Neuroacanthocytosis Syndromes.","authors":"Lars Kaestner","doi":"10.5334/tohm.826","DOIUrl":"10.5334/tohm.826","url":null,"abstract":"<p><p>The 11<sup>th</sup> International Meeting on Neuroacanthocytosis Syndromes was held on September 15<sup>th</sup>-17<sup>th</sup>, 2023 at the University Hospital Campus in Homburg/Saar, Germany. The meeting followed the previous ten international symposia, the last of which was held online due to restrictions due to COVID19, in March 2021. The setting of the meeting encouraged interactions, exchange of ideas, and networking opportunities among the participants from around the globe, including basic and clinical scientists, clinicians, and especially patients, their relatives and caregivers. A total of about 20 oral communications were presented in five scientific sessions accompanied by a keynote lecture, a \"Poster-Blitz\" session, the \"Glenn Irvine Prize\" lecture and a panel discussion about \"Patient registries, international cooperation & future perspectives\". In summary, attendees discussed recent advances and set the basis for the next steps, action points, and future studies in close collaboration with the patient associations, which were actively involved in the whole process.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10624129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71486468","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}
引用次数: 0
Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome. 脑深部刺激治疗与Russell-Silver综合征相关的肌阵挛性肌张力异常。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2023-10-30 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.782
Danielle S Shpiner, Taylor K Peabody, Corneliu C Luca, Jonathan Jagid, Henry Moore
{"title":"Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.","authors":"Danielle S Shpiner, Taylor K Peabody, Corneliu C Luca, Jonathan Jagid, Henry Moore","doi":"10.5334/tohm.782","DOIUrl":"10.5334/tohm.782","url":null,"abstract":"<p><strong>Background: </strong>Myoclonus dystonia syndrome typically results from autosomal dominant mutations in the epsilon-sarcoglycan gene (SGCE) via the paternally expressed allele on chromosome 7q21. There is evidence that deep brain stimulation (DBS) is beneficial for this genotype, however, there are few prior case reports on DBS for myoclonus dystonia syndrome secondary to other confirmed genetic etiologies.</p><p><strong>Case report: </strong>A 20-year-old female with concomitant Russell-Silver syndrome and myoclonus dystonia syndrome secondary to maternal uniparental disomy of chromosome 7 (mUPD7) presented for medically refractory symptoms. She underwent DBS surgery targeting the bilateral globus pallidus interna with positive effects that persisted 16 months post-procedure.</p><p><strong>Discussion: </strong>We present a patient with the mUPD7 genotype for myoclonus dystonia syndrome who exhibited a similar, if not superior, response to DBS when compared to patients with other genotypes.</p><p><strong>Highlights: </strong>This report outlines the first described case of successful deep brain stimulation treatment for a rare genetic variant of myoclonus dystonia syndrome caused by uniparental disomy at chromosome 7. These findings may expand treatment options for patients with similar conditions.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10624206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71486467","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}
引用次数: 0
Search for Novel Therapies for Essential Tremor Based on Positive Modulation of α6-Containing GABAA Receptors. 基于含α6的GABAA受体的阳性调节寻找原发性震颤的新疗法。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2023-10-23 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.796
Adrian Handforth, Ram P Singh, Marco Treven, Margot Ernst
{"title":"Search for Novel Therapies for Essential Tremor Based on Positive Modulation of α6-Containing GABA<sub>A</sub> Receptors.","authors":"Adrian Handforth, Ram P Singh, Marco Treven, Margot Ernst","doi":"10.5334/tohm.796","DOIUrl":"10.5334/tohm.796","url":null,"abstract":"<p><strong>Background: </strong>Prior work using GABA<sub>A</sub> receptor subunit knockouts and the harmaline model has indicated that low-dose alcohol, gaboxadol, and ganaxolone suppress tremor via α6βδ GABA<sub>A</sub> receptors. This suggests that drugs specifically enhancing the action of α6βδ or α6βγ2 GABA<sub>A</sub> receptors, both predominantly expressed on cerebellar granule cells, would be effective against tremor. We thus examined three drugs described by <i>in vitro</i> studies as selective α6βδ (ketamine) or α6βγ2 (Compound 6, flumazenil) receptor modulators.</p><p><strong>Methods: </strong>In the first step of evaluation, the maximal dose was sought at which 6/6 mice pass straight wire testing, a sensitive test for psychomotor impairment. Only non-impairing doses were used to evaluate for anti-tremor efficacy in the harmaline model, which was assessed in wildtype and α6 subunit knockout littermates.</p><p><strong>Results: </strong>Ketamine, in maximally tolerated doses of 2.0 and 3.5 mg/kg had minimal effect on harmaline tremor in both genotypes. Compound 6, at well-tolerated doses of 1-10 mg/kg, effectively suppressed tremor in both genotypes. Flumazenil suppressed tremor in wildtype mice at doses (0.015-0.05 mg/kg) far lower than those causing straight wire impairment, and did not suppress tremor in α6 knockout mice.</p><p><strong>Discussion: </strong>Modulators of α6βδ and α6βγ2 GABA<sub>A</sub> receptors warrant attention for novel therapies as they are anticipated to be effective and well-tolerated. Ketamine likely failed to attain α6βδ-active levels. Compound 6 is an attractive candidate, but further study is needed to clarify its mechanism of action. The flumazenil results provide proof of principle that targeting α6βγ2 receptors represents a worthy strategy for developing essential tremor therapies.</p><p><strong>Highlights: </strong>We tested for harmaline tremor suppression drugs previously described as <i>in vitro</i> α6βδ or α6βγ2 GABA<sub>A</sub> receptor-selective modulators. Well-tolerated flumazenil doses suppressed tremor in α6-wildtype but not α6-knockout mice. Compound 6 and ketamine failed to display this profile, likely from off-target effects. Selective α6 modulators hold promise as tremor therapy.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10607569/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71414035","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}
引用次数: 0
Comparative Effectiveness of Transcutaneous Afferent Patterned Stimulation Therapy for Essential Tremor: A Randomized Pragmatic Clinical Trial. 经皮传入模式刺激治疗原发性震颤的疗效比较:一项随机实用的临床试验。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2023-10-16 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.798
Dingwei Dai, Joaquim Fernandes, Han Kim, Henriette Coetzer
{"title":"Comparative Effectiveness of Transcutaneous Afferent Patterned Stimulation Therapy for Essential Tremor: A Randomized Pragmatic Clinical Trial.","authors":"Dingwei Dai, Joaquim Fernandes, Han Kim, Henriette Coetzer","doi":"10.5334/tohm.798","DOIUrl":"10.5334/tohm.798","url":null,"abstract":"<p><strong>Background: </strong>Transcutaneous afferent patterned stimulation (TAPS) is a wrist-worn, non-invasive therapy delivering calibrated stimulation to the median and radial nerves. Previous randomized controlled studies have demonstrated the efficacy and safety of TAPS therapy in some patients with essential tremor (ET), but evidence supporting therapeutic benefits of TAPS versus standard of care (SOC) is lacking. This randomized prospective study evaluated the clinical benefit of adding TAPS treatment to SOC versus SOC alone.</p><p><strong>Methods: </strong>This randomized pragmatic trial recruited patients from a large health plan's Commercially Insured and Medicare Advantage population. All 310 patients received a TAPS device and were randomized 1:1 to either one month adding TAPS therapy to usual care (TX arm) or usual care with tremor assessment only (SOC arm). The pre-specified endpoints were changes in tremor power measured by motion sensors on the device (primary) and improvement in Bain & Findley Activities of Daily Living (BF-ADL) upper limb scores (secondary) between TX and SOC in all patients who completed the one-month study.</p><p><strong>Results: </strong>276 patients completed the one-month study (N = 133 TX, N = 143 SOC). The study met the primary and secondary endpoints, with significantly reduced tremor power in TX compared with SOC (0.017 (0.003) versus 0.08 (0.014) (m/s<sup>2</sup>)<sup>2</sup>; geometric mean (SE); <i>p</i> < 0.0001) and greater improvement in the BF-ADL score in TX than SOC (1.6 (0.43) vs 0.2 (0.37) points; mean (SE); <i>p</i> < 0.05). No serious device-related adverse events were reported.</p><p><strong>Discussion: </strong>This trial demonstrates that adding TAPS treatment to SOC significantly improves tremor power and BF-ADLs in patients with ET compared to SOC alone over one month of home use.</p><p><strong>Highlights: </strong>This study found that adding TAPS treatment to SOC significantly improves tremor power and BF-ADL scores in patients with ET compared to SOC alone over one month of home use. This real-world evidence study suggests that non-invasive TAPS therapy is a safe and valuable treatment option for patients with ET.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10588491/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49692577","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}
引用次数: 0
Clinical Spectrum, Radiological Correlation and Outcome of Movement Disorders in Wilson's Disease. Wilson病运动障碍的临床谱、放射学相关性和预后。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2023-10-09 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.794
Rohan R Mahale, Albert Stezin, Shweta Prasad, Nitish Kamble, Vikram V Holla, Manjunath Netravathi, Ravi Yadav, Pramod Kumar Pal
{"title":"Clinical Spectrum, Radiological Correlation and Outcome of Movement Disorders in Wilson's Disease.","authors":"Rohan R Mahale, Albert Stezin, Shweta Prasad, Nitish Kamble, Vikram V Holla, Manjunath Netravathi, Ravi Yadav, Pramod Kumar Pal","doi":"10.5334/tohm.794","DOIUrl":"10.5334/tohm.794","url":null,"abstract":"<p><strong>Introduction: </strong>Movement disorders are the commonest clinical presentation in patients with neurological Wilson's disease (NWD). There are very few studies evaluating the spectrum, severity and their correlation with magnetic resonance imaging (MRI) changes of movement disorders in NWD.</p><p><strong>Objective: </strong>To study the spectrum, topographic distribution, radiological correlate, temporal course and outcome in our cohort of NWD patients.</p><p><strong>Methods: </strong>Retrospective chart review of the NWD patients having movement disorders was performed and analyzed.</p><p><strong>Results: </strong>Sixty-nine patients (males- 47) with NWD were analysed and the mean age at the onset of neurological symptoms was 13.6 ± 6.6 years (median 13 years; range 7-37 years). The first neurological symptom was movement disorder in 55 (79.7%) patients. Tremor (43.6%) and dystonia (41.8%) was the commonest movement disorder as the first neurological symptom. Dystonia (76.8%) was the most common overall movement disorder followed by parkinsonism (52.1%) and tremors (47.8%). Chorea (10.1%), myoclonus (1.4%) and ataxia (1.4%) were the least common movement disorder. Putamen was the most common affected site (95.6%) followed by caudate nucleus (73.9%), thalamus (60.8%), midbrain (59.4%), internal capsule (49.2%), pons (46.3%). Putamen was the most common area of abnormality in dystonia (98%), tremors (85%). Caudate (75%) and putamen (75%) was the most common areas of abnormality in parkinsonism. Favourable outcome was observed in 42 patients (60.8%) following treatment.</p><p><strong>Conclusion: </strong>Dystonia is the most common movement disorder in NWD in isolation or in combination with parkinsonism and tremors. Putamen is the most common radiological site of lesions and more frequently affected in patients with dystonia and tremors. Favourable outcome does occur with appropriate medical and surgical treatment.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10573579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41241954","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}
引用次数: 0
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism. 抓住罪魁祸首:合唱可能是先天性代谢错误的信号。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2023-10-06 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.801
Juan Darío Ortigoza-Escobar
{"title":"Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.","authors":"Juan Darío Ortigoza-Escobar","doi":"10.5334/tohm.801","DOIUrl":"10.5334/tohm.801","url":null,"abstract":"<p><strong>Background: </strong>Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field.</p><p><strong>Methods: </strong>A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines.</p><p><strong>Results: </strong>The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of the 173 patients, followed by athetosis in 5.7%. Various inborn errors of metabolism showed an association with chorea, with trace elements and metals being the most frequent. Cognitive and developmental abnormalities were common in the cohort. Frequent neurological features included seizures, dysarthria, and optic atrophy, whereas non-neurological features included, among others, facial dysmorphia and failure to thrive. Neuroimaging and biochemical testing played crucial roles in aiding diagnosis, revealing abnormal findings in 34.1% and 47.9% of patients, respectively. However, symptomatic treatment efficacy for movement disorders was limited.</p><p><strong>Discussion: </strong>This study emphasizes the complexities of chorea in inborn errors of metabolism. A systematic approach with red flags, biochemical testing, and neuroimaging is required for diagnosis. Collaboration between neurologists, geneticists, and metabolic specialists is crucial for improving early detection and individualized treatment. Utilizing genetic testing technologies and potential therapeutic avenues can aid in the improvement of patient outcomes.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10558026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41130231","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}
引用次数: 0
Frontotemporal Dementia-Parkinsonism Due to MAPT Gene Variant Presenting with Rest and Action Tremor. MAPT基因变异引起的额颞叶痴呆性帕金森综合征伴静息和活动性震颤。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2023-09-21 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.804
Shakya Bhattacharjee, Christopher Kobylecki
{"title":"Frontotemporal Dementia-Parkinsonism Due to <i>MAPT</i> Gene Variant Presenting with Rest and Action Tremor.","authors":"Shakya Bhattacharjee, Christopher Kobylecki","doi":"10.5334/tohm.804","DOIUrl":"10.5334/tohm.804","url":null,"abstract":"<p><p>A 50-year-old male presented with a four-year history of gradually progressive rest tremor in the distal right lower limb and then spreading to the left lower limb in last 10-12 months. He developed right arm rest and action tremor two years later. Magnetic resonance imaging scans showed progressive frontotemporal and asymmetrical mesial temporal atrophy. Genetic testing revealed a heterozygous c.915+16C>T pathogenic variant in intron 9 of the <i>MAPT</i> gene. Presentation with rest tremor should not exclude frontotemporal dementia-parkinsonism due to a <i>MAPT</i> variant as a differential diagnosis though rest tremor is a rare presentation.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41178470","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}
引用次数: 0
Prevalence and Clinical Types of Tremor in Multiple Sclerosis and its Associated Disability: A Systematic Review. 多发性硬化症及其相关残疾患者震颤的患病率和临床类型:一项系统综述。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2023-09-13 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.776
Prajjwol Luitel, Nischal Neupane, Sujan Paudel, Niranjan Adhikari, Binita Timilsina, Anil Suryabanshi, Prakash Gyawali, Rajeev Ojha
{"title":"Prevalence and Clinical Types of Tremor in Multiple Sclerosis and its Associated Disability: A Systematic Review.","authors":"Prajjwol Luitel,&nbsp;Nischal Neupane,&nbsp;Sujan Paudel,&nbsp;Niranjan Adhikari,&nbsp;Binita Timilsina,&nbsp;Anil Suryabanshi,&nbsp;Prakash Gyawali,&nbsp;Rajeev Ojha","doi":"10.5334/tohm.776","DOIUrl":"10.5334/tohm.776","url":null,"abstract":"<p><strong>Objective: </strong>To describe the state of literature regarding prevalence, clinical types of tremor in Multiple Sclerosis and associated disability.</p><p><strong>Background: </strong>Tremor has long been recognized as an important symptom of multiple sclerosis. This can be intention and postural tremor that affects the upper limbs. Patients with multiple sclerosis who experience tremor of any severity typically retire early or lose their jobs due to disability.</p><p><strong>Methods: </strong>This systematic review was performed up to September 9, 2022. Article selection was performed by searching the MEDLINE (PubMed) and EMBASE electronic bibliographic databases. The search strategy was not limited by study design but only for articles in the English language.</p><p><strong>Results: </strong>A total of nine full-text articles were included in the analysis. Six studies were cross-sectional studies; one each was a prospective observational study, a case-control study, a community-based cohort. The prevalence of tremor in the multiple sclerosis (MS) population among studies ranged widely, between 12.5% and 68.9%. The presence of severe tremor ranged from 3% to 33%. Younger age was a significant predictor of tremor in two studies. The most common tremor subtype was action tremor. Upper extremities were the most common site involved in the majority of our studies, followed by head and neck.</p><p><strong>Conclusions: </strong>Prevalence of tremor ranged from 12.5% to 68.9% in the MS population with severe tremor being an infrequent complication. Severity of tremor correlated with increasing disability. Upper limb action tremor was the most common with rare occurrences of resting and rubral tremor.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10503526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10309139","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}
引用次数: 0
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