Tremor and Other Hyperkinetic Movements最新文献

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Substantial Improvement in a Patient with Subacute Sclerosing Panencephalitis: An Unusual Case Report. 亚急性硬化性泛脑炎患者病情明显好转:一个不寻常的病例报告
IF 2.5
Tremor and Other Hyperkinetic Movements Pub Date : 2024-11-21 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.972
Sneh Jain, Shweta Pandey, Ravindra Kumar Garg, Swansu Suresh Kumar Batra
{"title":"Substantial Improvement in a Patient with Subacute Sclerosing Panencephalitis: An Unusual Case Report.","authors":"Sneh Jain, Shweta Pandey, Ravindra Kumar Garg, Swansu Suresh Kumar Batra","doi":"10.5334/tohm.972","DOIUrl":"10.5334/tohm.972","url":null,"abstract":"<p><strong>Background: </strong>Subacute Sclerosing Panencephalitis (SSPE) is a fatal disorder marked by gradual cognitive and motor deterioration, leading to death typically within 1-3 years.</p><p><strong>Case report: </strong>A 20-year-old woman with progressive abnormal behaviour, forgetfulness, and involuntary movements showed significant improvement after treatment with interferon and isoprinosine. Initially severely cognitively impaired and dependent, she regained independence and demonstrated marked cognitive enhancement, her MMSE improved from 15 to 28 and reduced myoclonus. Her progress was sustained over three years, substantially enhancing her quality of life.</p><p><strong>Discussion: </strong>This SSPE case shows significant improvement in disability. Early identification of such cases is crucial for improved prognostic counselling for families.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"57"},"PeriodicalIF":2.5,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11583608/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709675","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
Shaking Up Essential Tremor: Peripheral Devices and Mechanical Strategies to Reduce Tremor. 震颤本质震颤:减少震颤的外围设备和机械策略。
IF 2.5
Tremor and Other Hyperkinetic Movements Pub Date : 2024-11-11 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.930
Kian Adabi, William G Ondo
{"title":"Shaking Up Essential Tremor: Peripheral Devices and Mechanical Strategies to Reduce Tremor.","authors":"Kian Adabi, William G Ondo","doi":"10.5334/tohm.930","DOIUrl":"10.5334/tohm.930","url":null,"abstract":"<p><p>This review discusses non-pharmacological, non-surgical interventions for action tremor, including essential tremor (ET). We review transcutaneous peripheral nerve stimulation (PNS), a variety of orthotic/mechanical devices, cooling and vibration strategies, and adaptive utensils, most of which are currently available. The PNS section discusses open loop (CALA-Trio) and closed loop systems (Felix™, NeuroAI™ and Motimove® systems). Orthotic devices which physically dampen tremor include Tremulo™, GyroGlove™, WOTAS exoskeleton, Magnetorheological Fluid-Based Exoskeleton System, Steadi-One® and Steadi-Two®, and Readi-Steady®. Adaptive devices include weighted spoons, deep cavity spoons, counter-balance utensils, and electrical actuator devices. Despite availability, most of these devices have limited to no published clinical trial data.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"55"},"PeriodicalIF":2.5,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11568799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649011","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
Echography-guided Botulinum Toxin for Moving Ear Syndrome. 超声波引导肉毒杆菌毒素治疗动耳综合征。
IF 2.5
Tremor and Other Hyperkinetic Movements Pub Date : 2024-11-11 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.951
Vidal Yahya, Rosa Consuelo Chavez, Laura Campiglio, Manuela Zardoni, Alberto Priori
{"title":"Echography-guided Botulinum Toxin for Moving Ear Syndrome.","authors":"Vidal Yahya, Rosa Consuelo Chavez, Laura Campiglio, Manuela Zardoni, Alberto Priori","doi":"10.5334/tohm.951","DOIUrl":"10.5334/tohm.951","url":null,"abstract":"<p><strong>Background: </strong>Moving Ear Syndrome is a rare hyperkinetic disorder.</p><p><strong>Phenomenology shown: </strong>This Video Abstract illustrates typical backward movements of the right ear associated with pain and discomfort in a man with Moving Ear Syndrome.</p><p><strong>Educational value: </strong>Moving Ear Syndrome is effectively and safely treatable with EMG-US-guided botulinum toxin injections.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"56"},"PeriodicalIF":2.5,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11568798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649004","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
Adult-Onset Neuronal Ceroid Lipofuscinosis: CLN5 Variant Presenting as Focal Dystonia. 成人发病型神经细胞类色素沉着病:表现为局灶性肌张力障碍的CLN5变异型。
IF 2.5
Tremor and Other Hyperkinetic Movements Pub Date : 2024-11-04 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.941
Karri Madhavi, Rukmini Mridula Kandadai, Sruthi Kola, Rupam Borgohain, Rajesh Alugolu, Vvsrk Prasad, Bevinahalli N Nandeesh, Periyasamy Govindaraj
{"title":"Adult-Onset Neuronal Ceroid Lipofuscinosis: <i>CLN5</i> Variant Presenting as Focal Dystonia.","authors":"Karri Madhavi, Rukmini Mridula Kandadai, Sruthi Kola, Rupam Borgohain, Rajesh Alugolu, Vvsrk Prasad, Bevinahalli N Nandeesh, Periyasamy Govindaraj","doi":"10.5334/tohm.941","DOIUrl":"https://doi.org/10.5334/tohm.941","url":null,"abstract":"<p><strong>Background: </strong>Neuronal ceroid lipofuscinosis (NCL) is a rare hereditary lysosomal storage disorder causing neuronal loss and progressive neurodegeneration. <i>CLN</i> variants cause varied phenotypic presentations.</p><p><strong>Case report: </strong>A 49-year-old male presented with late adult-onset progressive focal right lower limb dystonia. Imaging showed cerebellar atrophy, and genetic testing was positive for the <i>CLN5</i> variant (c.826T > C; p.Phe276 Leu) with uncertain significance. Skin biopsy suggested NCL, which made us consider the variant pathogenic, leading to novel phenotypic presentation.</p><p><strong>Conclusion: </strong>Isolated focal dystonia has not been reported as an initial presentation in ANCL. Early genetic testing and periodic clinical assessments are advisable for better management and prognostication.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"54"},"PeriodicalIF":2.5,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629017","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
Tremor Following Guillain Barré Syndrome. 格林巴利综合征后的震颤
IF 2.5
Tremor and Other Hyperkinetic Movements Pub Date : 2024-10-25 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.906
José Fidel Baizabal-Carvallo, Carlos Manuel Cortés, Marlene Alonso-Juarez, Robert Fekete
{"title":"Tremor Following Guillain Barré Syndrome.","authors":"José Fidel Baizabal-Carvallo, Carlos Manuel Cortés, Marlene Alonso-Juarez, Robert Fekete","doi":"10.5334/tohm.906","DOIUrl":"https://doi.org/10.5334/tohm.906","url":null,"abstract":"<p><strong>Background: </strong>Neuropathic tremor occurs with damage to the peripheral nervous system. Guillain-Barré syndrome (GBS) causes acute paralysis following nerve inflammation sometimes resulting in long-term disability. It is unclear how frequent and severe tremor is following GBS.</p><p><strong>Objectives: </strong>We aimed to assess the frequency and features of tremor following GBS.</p><p><strong>Methods: </strong>We enrolled 18 patients with GBS treated in a secondary care center within a 4-year period. Evaluations were done with the Fahn-Tolosa-Marin tremor rating scale (FTM-TRS). We compared these features with a cohort of consecutive patients with untreated essential tremor (ET).</p><p><strong>Results: </strong>There were 13 males and 5 females with a mean age at evaluation (S.D.) of 41.5 ± 14.0 years and at GBS onset of 40.2 ± 13.7. No patient had history of tremor before GBS. Upper limb tremor was identified in 16 (89%) cases, 35.5% of patients had FTM-TRS score ≥10 points. Tremor was mostly kinetic, jerky with low amplitude with a total score of 10.94 ± 11.84 in the FTM-TRS. Compared with patients with ET, those with GBS-tremor were younger and had lower scores in all subscales of the FTM-TRS (<i>P</i> value < 0.05 for all comparisons). In a multivariate linear regression analysis \"days of hospitalization\" had a positive association with the total FTM-TRS score (<i>P</i> = 0.001).</p><p><strong>Conclusions: </strong>Tremor was common following GBS. This tremor is mild compared with patients with ET, but adds functional impact.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"53"},"PeriodicalIF":2.5,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142547676","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
Caffeine Use in Huntington's Disease: A Single Center Survey. 亨廷顿氏症患者使用咖啡因的情况:单中心调查
IF 2.5
Tremor and Other Hyperkinetic Movements Pub Date : 2024-10-18 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.945
Jennifer Adrissi, Sarah Brooker, Alyssa Mcbride, Danielle Larson, Eric Gausche, Danny Bega
{"title":"Caffeine Use in Huntington's Disease: A Single Center Survey.","authors":"Jennifer Adrissi, Sarah Brooker, Alyssa Mcbride, Danielle Larson, Eric Gausche, Danny Bega","doi":"10.5334/tohm.945","DOIUrl":"10.5334/tohm.945","url":null,"abstract":"<p><strong>Background: </strong>Anecdotal evidence suggests paradoxical caffeine overuse in individuals with Huntington's disease (HD). A small retrospective study associated caffeine intake over 190 grams daily to earlier onset of HD symptoms. However, specific data on consumption habits is limited. This study aims to gather pilot data on caffeine use in people with HD, exploring motivations and consequences.</p><p><strong>Methods: </strong>Thirty adults with HD completed a survey on daily caffeine intake, its impact on symptoms, and consumption motivations through multiple-choice and open-ended questions. Descriptive statistics were used to analyze findings and compare them to general population data.</p><p><strong>Results: </strong>Caffeine intake ranged from 0 to 1400.4 mg/day, with a median of 273.2 mg/day and a mean of 382.5 mg/day. Seventy percent of participants with HD consumed more caffeine than the average for their age group in the general population. Additionally, 20% of participants and 38% of family members believed caffeine influenced HD symptoms, primarily anxiety.</p><p><strong>Discussion: </strong>People with HD typically consume more caffeine than the general U.S. population. Contrary to the hypothesis, higher caffeine intake was not associated with significant subjective worsening of HD symptoms. Further research with objective measures and multiple HD centers is necessary to guide screening and counseling on caffeine use in this population.</p><p><strong>Highlights: </strong>Participants with Huntington's disease (HD) had increased caffeine intake compared to the general population, supporting previous anecdotal observations. Anxiety was the most affected HD symptom. Further research using objective measures of symptom burden and including multiple HD centers can help inform screening and counseling regarding caffeine use in this population.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"52"},"PeriodicalIF":2.5,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475771","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
Patient Selection for Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration. 选择脑深部刺激治疗泛酸激酶相关神经变性的患者。
IF 2.5
Tremor and Other Hyperkinetic Movements Pub Date : 2024-10-17 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.929
Jason L Chan, Ashley E Rawls, Joshua K Wong, Penelope Hogarth, Justin D Hilliard, Michael S Okun
{"title":"Patient Selection for Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration.","authors":"Jason L Chan, Ashley E Rawls, Joshua K Wong, Penelope Hogarth, Justin D Hilliard, Michael S Okun","doi":"10.5334/tohm.929","DOIUrl":"10.5334/tohm.929","url":null,"abstract":"<p><strong>Clinical vignette: </strong>A 23-year-old woman with pantothenate kinase-associated neurodegeneration (PKAN) presented with medication-refractory generalized dystonia and an associated gait impairment.</p><p><strong>Clinical dilemma: </strong>Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) can be an effective treatment for dystonia. However, outcomes for PKAN DBS have been variable and there are no standardized criteria for patient selection.</p><p><strong>Clinical solution: </strong>Bilateral GPi DBS implantation resulted in improvement in dystonia and gait. The benefit has persisted over one year after implantation.</p><p><strong>Gap in knowledge: </strong>PKAN is a rare neurodegenerative disorder and evidence supporting the use of PKAN DBS has been largely limited to case reports and case series. Consequently, there is a paucity of long-term data, especially on gait-related outcomes.</p><p><strong>Expert commentary: </strong>The clinical characteristics of dystonia that respond to DBS tend to respond in PKAN. Clinicians counselling patients about the effects of DBS for PKAN should thoughtfully discuss gait and postural instability as important aspects to consider, especially as the disease will progress post-DBS.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"51"},"PeriodicalIF":2.5,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475772","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
A Case of a Patient With MYH2-Associated Myopathy Presenting With a Chief Complaint of Hand Tremor. 一例以手部震颤为主诉的 MYH2 相关肌病患者。
IF 2.5
Tremor and Other Hyperkinetic Movements Pub Date : 2024-10-01 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.932
Xinxin Liao, Qiuxiang Li, Huan Yang, Qiying Sun
{"title":"A Case of a Patient With <i>MYH2</i>-Associated Myopathy Presenting With a Chief Complaint of Hand Tremor.","authors":"Xinxin Liao, Qiuxiang Li, Huan Yang, Qiying Sun","doi":"10.5334/tohm.932","DOIUrl":"10.5334/tohm.932","url":null,"abstract":"<p><strong>Background: </strong>Postural tremor is an uncommon and often overlooked phenotype in skeletal myopathy, which may lead to diagnostic delays.</p><p><strong>Case report: </strong>A 21-year-old man presented with adolescent onset postural hand tremor as the initial symptom, followed by mild limb muscle weakness. Neurological examination showed restricted ocular motility without diplopia and myopathic facial appearance. A muscle biopsy showed a decrease in type 2A fibers. Whole-exome sequencing identified two novel compound heterozygous variants in <i>MYH2</i> gene (NM_017534.6): c.505+2T>C and c.3565 del C. The diagnosis was further validated via bioinformatics analysis and confirmed through familial co-segregation by Sanger sequencing.</p><p><strong>Discussion: </strong>This report expands the mutational and phenotypic spectrum of <i>MYH2</i>-associated myopathy. We suggest that in the differential diagnosis of tremor, besides common neurogenic causes, myogenic etiology should also be considered.</p><p><strong>Highlights: </strong>Hand tremor in this case expands the phenotype of MYH2-associated myopathy, enhancing our understanding of tremor origins. It underscores the importance of nuanced clinical assessment and genetic screening in complex tremor disorders.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"50"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381728","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
Six Myths and Misconceptions about Essential Tremor. 关于本质性震颤的六个神话和误解。
IF 2.5
Tremor and Other Hyperkinetic Movements Pub Date : 2024-09-25 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.948
Elan D Louis
{"title":"Six Myths and Misconceptions about Essential Tremor.","authors":"Elan D Louis","doi":"10.5334/tohm.948","DOIUrl":"https://doi.org/10.5334/tohm.948","url":null,"abstract":"<p><p>There are myths and misperceptions about most human diseases, and neurological diseases are no exception. In many instances, myths and misconceptions reflect what is no more than the collective failure of the field to catch up with the state of the science in that field. Hence, one may perhaps refer to these as \"lags\" rather than myths. As the field of medicine attempts to be evidence-based, it is best to remain true to published data and the state of the science. In this paper, I review six myths and misconceptions about ET. Myth 1 relates to the natural history and prognosis of ET. Myths 2 and 3 relate to the biological basis of ET, whereas myths 4 and 5 relate to the expression of the core clinical feature of ET. Finally, myth 6 focuses on the issue of disease classification. The myths are as follows: <i>Myth 1:</i> \"ET is not associated with a shorter life expectancy\". <i>Myth 2:</i> \"The pathophysiology of ET remains unclear\". <i>Myth 3:</i> \"There have also been studies that do not show any cerebellar degeneration\". <i>Myth 4:</i> \"ET is a postural or a kinetic tremor\". <i>Myth 5:</i> \"Action tremor in ET is usually bilateral and symmetric\". <i>Myth 6:</i> \"ET plus\". As neurologists, we are not ignorant of feedback loops. A regular review of facts should help to frame one's output. As such, one's formulations and output will be firmly grounded in data.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"49"},"PeriodicalIF":2.5,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11428667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142354584","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
Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome. 与 ANKRD11 相关的 KBG 综合征中的震颤为主的运动障碍。
IF 2.5
Tremor and Other Hyperkinetic Movements Pub Date : 2024-09-25 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.926
Antonia M Stehr, Thomas Koeglsperger, Maureen Jacob, Valerio Rhodio, Juliane Winkelmann, Franziska Hopfner, Michael Zech
{"title":"Tremor-Dominant Movement Disorder in <i>ANKRD11-</i> Associated KBG Syndrome.","authors":"Antonia M Stehr, Thomas Koeglsperger, Maureen Jacob, Valerio Rhodio, Juliane Winkelmann, Franziska Hopfner, Michael Zech","doi":"10.5334/tohm.926","DOIUrl":"10.5334/tohm.926","url":null,"abstract":"<p><strong>Background: </strong>KBG syndrome is a monogenic disorder caused by heterozygous pathogenic variants in <i>ANKRD11</i>. A recent single-case study suggested that the clinical spectrum of KBG syndrome, classically defined by distinctive craniofacial traits and developmental delay, may include movement disorders.</p><p><strong>Case report: </strong>We report a 24-year-old patient harboring a pathogenic <i>de novo ANKRD11</i> frameshift variant. The phenotype was dominated by a progressive tremor-dominant movement disorder, characterized by rest, intention and postural tremor of the hands, voice tremor, head and tongue tremor, increased muscle tone and signs of ataxia. Additionally, the patient had a history of mild developmental delay and epilepsy.</p><p><strong>Discussion: </strong>Adding to the recently described individual, our present patient highlights the relevance of movement disorders as a clinically relevant manifestation of KBG syndrome. <i>ANKRD11</i> pathogenic variants should be considered in the differential diagnosis of combined tremor syndromes.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"48"},"PeriodicalIF":2.5,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11428658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142354585","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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