Tremor and Other Hyperkinetic Movements最新文献

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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":"13 ","pages":"38"},"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
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":"13 ","pages":"36"},"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":"13 ","pages":"35"},"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
Real-World Evidence of Transcutaneous Afferent Patterned Stimulation for Essential Tremor. 经皮传入模式刺激原发性震颤的真实证据。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2022-09-01 eCollection Date: 2022-01-01 DOI: 10.5334/tohm.715
Salima Brillman, Kalea Colletta, Sally Borucki, Peter T Lin, Olga Waln, Melita Petrossian, Pravin Khemani, Apoorva Rajagopal, Kathryn H Rosenbluth, Dhira Khosla
{"title":"Real-World Evidence of Transcutaneous Afferent Patterned Stimulation for Essential Tremor.","authors":"Salima Brillman,&nbsp;Kalea Colletta,&nbsp;Sally Borucki,&nbsp;Peter T Lin,&nbsp;Olga Waln,&nbsp;Melita Petrossian,&nbsp;Pravin Khemani,&nbsp;Apoorva Rajagopal,&nbsp;Kathryn H Rosenbluth,&nbsp;Dhira Khosla","doi":"10.5334/tohm.715","DOIUrl":"https://doi.org/10.5334/tohm.715","url":null,"abstract":"<p><strong>Background: </strong>Transcutaneous afferent patterned stimulation (TAPS) is a prescription, wrist-worn device-delivered, non-invasive neuromodulation therapy for treatment of hand tremor in patients with essential tremor (ET). This retrospective post-market surveillance study evaluated real-world effectiveness of TAPS from patients using therapy on-demand for at least 90 days between August 2019 through June 2021.</p><p><strong>Methods: </strong>Demographics were summarized from TAPS prescriptions received from the patient's healthcare provider. Therapy usage and effectiveness were analyzed from device logs, which included tremor measurements from onboard motion sensors. Tremor history and patient-reported outcomes were assessed from a voluntary survey.</p><p><strong>Results: </strong>A total of 321 patients (average age 71 years, 32% female) met the criteria for this analysis, 216 of whom had tremor measurements available for analysis and 69 of whom completed the survey. Total usage period ranged from 90 to 663 days, with 28% of patients using the device for over one year. Patients used therapy 5.4 ± 4.5 (mean ± 1 standard deviation) times per week. TAPS reduced tremor power by 71% (geometric mean) across all sessions, with 59% of patients experiencing >50% tremor reduction after their sessions. Eighty-four percent (84%) of patients who returned the voluntary survey reported improvement in at least one of eating, drinking, or writing, and 65% of patients reported improvement in quality of life. Self-reported device-related safety complaints were consistent with adverse events in prior clinical trials.</p><p><strong>Discussion: </strong>Real-world evidence is consistent with prior clinical trials and confirms TAPS provides safe and effective tremor control for many patients with ET. Future work assessing multi-year safety and effectiveness would be valuable to extend these data.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":"27"},"PeriodicalIF":2.2,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9442494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40365501","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: 4
Case report - Asterixis Post High Frequency Focused-Ultrasound Thalamotomy. 病例报告-高频聚焦超声丘脑切开术后星形肿。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2022-08-30 eCollection Date: 2022-01-01 DOI: 10.5334/tohm.718
Ashley Mears, Ali R Rezai, Richa Tripathi
{"title":"Case report - Asterixis Post High Frequency Focused-Ultrasound Thalamotomy.","authors":"Ashley Mears,&nbsp;Ali R Rezai,&nbsp;Richa Tripathi","doi":"10.5334/tohm.718","DOIUrl":"https://doi.org/10.5334/tohm.718","url":null,"abstract":"<p><strong>Background: </strong>High frequency focused ultrasound is used for treatment of essential tremor. Side effects associated with the procedure may resolve over time. We report a case of negative myoclonus, which has not been reported with this procedure.</p><p><strong>Case report: </strong>A 73-year-old left-handed man underwent focused ultrasound thalamotomy for treatment of essential tremor. Immediately post procedure he was noted to have negative myoclonus in the treated limb. This side effect resolved over the course of 6 months.</p><p><strong>Discussion: </strong>Although asterixis has been associated with thalamic infarcts in the past, this has not yet been reported in the literature with MRgFUS procedure and is a novel observation. Occupational and physical therapy may be considered to address this side effect. It is important to counsel patients about the rare occurrence of this complication of therapy but also its potential for complete resolution over time.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":"26"},"PeriodicalIF":2.2,"publicationDate":"2022-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9438457/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40365502","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
Brain Donation Decisions as Disease Specific Behaviors: An Elucidation of the Donation Process in the Context of Essential Tremor. 作为疾病特定行为的脑捐赠决定:特发性震颤背景下捐赠过程的阐明。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2022-08-23 eCollection Date: 2022-01-01 DOI: 10.5334/tohm.704
Daniella Iglesias-Hernandez, Diane Berry, Nora Hernandez, Elan D Louis
{"title":"Brain Donation Decisions as Disease Specific Behaviors: An Elucidation of the Donation Process in the Context of Essential Tremor.","authors":"Daniella Iglesias-Hernandez,&nbsp;Diane Berry,&nbsp;Nora Hernandez,&nbsp;Elan D Louis","doi":"10.5334/tohm.704","DOIUrl":"https://doi.org/10.5334/tohm.704","url":null,"abstract":"<p><p>Brain donation is a challenging process, comprising four sequential stages: (1) the brain donation decision, (2) pre-mortem arrangements and follow up, (3) specimen collection and (4) tissue processing. It is important to understand the factors that are pertinent to each stage. Currently, there is extensive information on factors that involve donor's personal and cultural backgrounds and how these could affect the process. However, little is known about <i>disease-specific factors</i> that influence the process. The Essential Tremor Centralized Brain Repository was established in 2003, and after nearly 20 years of collecting essential tremor (ET) brain tissue, we are well-positioned to discuss the brain donation process from a disease-specific standpoint. In the current manuscript, we discuss ET disease-specific factors that influence the first two stages of the brain donation process. We center our discussion around three points: (1) factors that influence the patient's decision to donate, (2) the involvement of next of kin in the donation, and (3) the rationale for enrolling patients prospectively and evaluating them longitudinally before the anatomical gift takes place. This discussion shares our understanding of the background from which our repository operates and may be of value for other brain banks that study similar neurodegenerative diseases.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":"25"},"PeriodicalIF":2.2,"publicationDate":"2022-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9414733/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33448980","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
Gait Apraxia with Exaggerated Upper Limb Movements as Presentation of AARS2 Related Leukoencephalopathy. 步态失调症伴上肢运动过度表现为AARS2相关白质脑病。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2022-08-02 eCollection Date: 2022-01-01 DOI: 10.5334/tohm.705
Arka Prava Chakraborty, Adreesh Mukherjee, Aishee Bhattacharyya, Dwaipayan Bhattacharyya, Biman Kanti Ray, Atanu Biswas
{"title":"Gait Apraxia with Exaggerated Upper Limb Movements as Presentation of AARS2 Related Leukoencephalopathy.","authors":"Arka Prava Chakraborty,&nbsp;Adreesh Mukherjee,&nbsp;Aishee Bhattacharyya,&nbsp;Dwaipayan Bhattacharyya,&nbsp;Biman Kanti Ray,&nbsp;Atanu Biswas","doi":"10.5334/tohm.705","DOIUrl":"https://doi.org/10.5334/tohm.705","url":null,"abstract":"<p><p>A 55-year-old male presented with apraxia of gait with exaggerated upper limb movement with relative preservation of cognition and mild spasticity of limbs. His investigations reveal posterior-predominant leukodystrophy in brain magnetic resonance imaging (MRI) and compound heterozygous mutations in mitochondrial alanyl-transfer RNA synthetase 2 (<i>AARS2</i>) by next generation sequencing. His asymptomatic brother also has MRI changes with subtle mild pyramidal signs. <i>AARS2</i> mutation is a rare cause of mitochondrial encephalopathy which may give rise to leukodystrophy with premature ovarian failure, infantile cardiomyopathy, lung hypoplasia and myopathy. Gait apraxia as primary presenting feature of this rare variant of mitochondrial encephalomyopathy is hitherto un-reported.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":"24"},"PeriodicalIF":2.2,"publicationDate":"2022-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40617283","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
Suppression of Axial Tremor by Deep Brain Stimulation in Patients with Essential Tremor: Effects on Gait and Balance Measures. 脑深部刺激对特发性震颤患者轴性震颤的抑制:对步态和平衡措施的影响。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2022-07-01 eCollection Date: 2022-01-01 DOI: 10.5334/tohm.698
Yoon Jin Choi, Basma Yacoubi, Agostina Casamento-Moran, Stefan Delmas, Bradley J Wilkes, Christopher W Hess, Aparna Wagle Shukla, Kelly D Foote, David E Vaillancourt, Michael S Okun, Evangelos A Christou
{"title":"Suppression of Axial Tremor by Deep Brain Stimulation in Patients with Essential Tremor: Effects on Gait and Balance Measures.","authors":"Yoon Jin Choi,&nbsp;Basma Yacoubi,&nbsp;Agostina Casamento-Moran,&nbsp;Stefan Delmas,&nbsp;Bradley J Wilkes,&nbsp;Christopher W Hess,&nbsp;Aparna Wagle Shukla,&nbsp;Kelly D Foote,&nbsp;David E Vaillancourt,&nbsp;Michael S Okun,&nbsp;Evangelos A Christou","doi":"10.5334/tohm.698","DOIUrl":"https://doi.org/10.5334/tohm.698","url":null,"abstract":"<p><strong>Background: </strong>Deep brain stimulation (DBS) of the ventralis intermedius (VIM) nucleus of the thalamus has been successful in mitigating upper limb tremor, but the effect on gait and balance performance is unclear. Here, we aim to examine the effectiveness of VIM DBS on stride length variability, sway path length, and task-relevant tremor of various body segments in essential tremor (ET).</p><p><strong>Methods: </strong>Seventeen ET individuals treated with DBS (ET DBS) and 17 age-and sex-matched healthy controls (HC) performed a postural balance and overground walking task. In separate and consecutive visits, ET DBS performed gait and balance tasks with DBS ON or OFF. The main outcome measures were sway path length, stride length variability, and tremor quantified from upper limb, lower limb, upper and lower trunk (axial) during the gait and balance tasks.</p><p><strong>Results: </strong>With DBS OFF, ET DBS exhibited significantly greater stride length variability, sway path length, and tremor during gait and balance task relative to HC. Relative to DBS OFF, DBS ON reduced stride length variability and sway path length in ET DBS. The DBS-induced reduction in stride length variability was associated with the reduction in both upper trunk tremor and upper limb tremor. The DBS-induced reduction in sway path length was associated with the reduction in upper trunk tremor.</p><p><strong>Discussion: </strong>The findings of this study revealed that VIM DBS was effective in improving gait and balance in ET DBS and that improvements in gait and postural balance were associated with a reduction of axial tremor during the tasks.</p><p><strong>Highlights: </strong>ET patients exhibit tremor in various body locations during gait and balance.DBS reduced stride length variability and sway path length.DBS-induced improvements in gait and balance were associated with reduction in axial tremor.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":"23"},"PeriodicalIF":2.2,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40618011","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: 1
Surgical Outcomes in Rare Movement Disorders: A Report of Seventeen Patients from India and Review of Literature. 罕见运动障碍的手术结果:来自印度的17例患者报告及文献回顾。
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2022-06-20 eCollection Date: 2022-01-01 DOI: 10.5334/tohm.693
Debjyoti Dhar, Vikram Venkappayya Holla, Nitish Kamble, Ravi Yadav, Dwarakanath Srinivas, Pramod Kumar Pal
{"title":"Surgical Outcomes in Rare Movement Disorders: A Report of Seventeen Patients from India and Review of Literature.","authors":"Debjyoti Dhar,&nbsp;Vikram Venkappayya Holla,&nbsp;Nitish Kamble,&nbsp;Ravi Yadav,&nbsp;Dwarakanath Srinivas,&nbsp;Pramod Kumar Pal","doi":"10.5334/tohm.693","DOIUrl":"https://doi.org/10.5334/tohm.693","url":null,"abstract":"<p><strong>Background: </strong>Rare movement disorders (RMDs) throw remarkable challenges to their appropriate management particularly when they are medically refractory. We studied the outcome of functional neurosurgery among patients with RMDs.</p><p><strong>Methods: </strong>Retrospective chart-review from 2006 to 2021 of patients with RMDs who underwent either Deep brain Stimulation (DBS) or lesional surgeries in the department of Neurology and Neurosurgery at a tertiary care centre.</p><p><strong>Results: </strong>Seventeen patients were included. Generalized dystonia (11 patients, 64.7%) and tremor (5 patients, 29.4%) were the most common indication for surgery whereas, Wilson's disease (8 patients, 47.1%) and Neurodegeneration with brain iron accumulation (5 patients, 29.4%) were the most common aetiology. Sixteen patients (94.1%) had objective clinical improvement. Significant improvement was noted in the dystonia motor scores both at 6-months and 12-months follow-up (n = 11, p-value of <0.01 and 0.01 respectively). Comparison between DBS and lesional surgery showed no significant difference in the outcomes (p = 0.95 at 6-months and p = 0.53 at 12-months), with slight worsening of scores in the DBS arm at 12-months. Among five patients of refractory tremor with Wilson's disease, there was remarkable improvement in the tremor scores by 85.0 ± 7.8% at the last follow-up. Speech impairment was the main complication observed with most of the other adverse events either transient or reversible.</p><p><strong>Discussion: </strong>Surgical options should be contemplated among patients with disabling medically refractory RMDs irrespective of the aetiology. Key to success lies in appropriate patient selection. In situations when DBS is not feasible, lesional surgeries can offer an excellent alternative with comparable efficacy and safety.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":"22"},"PeriodicalIF":2.2,"publicationDate":"2022-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9231568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40577788","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: 6
NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity? NUS1与癫痫-肌阵挛-共济失调综合征:一个未被认识的实体?
IF 2.2
Tremor and Other Hyperkinetic Movements Pub Date : 2022-06-15 eCollection Date: 2022-01-01 DOI: 10.5334/tohm.696
Giulietta M Riboldi, Edoardo Monfrini, Christine Stahl, Steven J Frucht
{"title":"<i>NUS1</i> and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?","authors":"Giulietta M Riboldi,&nbsp;Edoardo Monfrini,&nbsp;Christine Stahl,&nbsp;Steven J Frucht","doi":"10.5334/tohm.696","DOIUrl":"https://doi.org/10.5334/tohm.696","url":null,"abstract":"<p><strong>Background: </strong>Variants of the <i>NUS1</i> gene have recently been linked to a spectrum of phenotypes including epilepsy, cerebellar ataxia, cortical myoclonus and intellectual disability (ID), and primary congenital defects of glycosylation.</p><p><strong>Case report: </strong>We report a case of myoclonus epilepsy, mild cerebellar ataxia, and ID due to a new de-novo <i>NUS1</i> missense variant (c.868C>T, p.R290C), and review the current literature of <i>NUS1</i>-associated clinical phenotypes.</p><p><strong>Discussion: </strong>Pathogenic variants of <i>NUS1</i> are found in a rapidly growing number of cases diagnosed with myoclonus epilepsy and/or myoclonus-ataxia syndrome. <i>NUS1</i> should be included in the genetic screening of undiagnosed forms of myoclonus, myoclonus-ataxia, and progressive myoclonus epilepsies.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":"21"},"PeriodicalIF":2.2,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205445/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40616531","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: 3
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