Tremor and Other Hyperkinetic Movements最新文献_第2页

Pathogenic Variant in the 5'-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia. 中国多巴反应性肌张力障碍家族GCH1 5′-非翻译区致病变异及临床异质性

IF 2.5

Tremor and Other Hyperkinetic Movements Pub Date : 2025-01-07 eCollection Date: 2025-01-01 DOI: 10.5334/tohm.974

Yanting Li, Mingqiang Li, Lanqing Liu, Qiying Sun, Guang Yang

{"title":"Pathogenic Variant in the 5'-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.","authors":"Yanting Li, Mingqiang Li, Lanqing Liu, Qiying Sun, Guang Yang","doi":"10.5334/tohm.974","DOIUrl":"10.5334/tohm.974","url":null,"abstract":"Background: Variants in the GCH1 gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.Results: The proband, a 50-year-old woman with a 10-year history of limb rigidity, abnormal posture, and a 23-year history of neck deviation, showed significant symptom improvement with levodopa treatment. Family evaluation revealed similar motor symptoms in four additional affected members, all responding well to levodopa. WES identified a GCH1 variant (NM_000161.3: c.-22C > T) in the 5'-untranslated region (5' UTR) in four symptomatic individuals (excluding deceased II-3). This variant likely affects translation by introducing an upstream initiation codon and open reading frame (uORF), leading to decreased BH4 levels and disrupted dopamine synthesis.Discussion: This study reports a pathogenic variant in the 5' UTR of GCH1 in a family with DRD, underscoring the phenotypic heterogeneity associated with this locus.Highlights: A non-coding variant (c.-22C > T) in the 5' UTR of the GCH1 gene is identified in a Chinese family with DRD.The findings reveal significant clinical heterogeneity within the family, highlighting the complex genotype-phenotype relationship.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"1"},"PeriodicalIF":2.5,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11720937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972302","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

ATP1A3-Associated Paroxysmal Dystonia. atp1a3相关阵发性肌张力障碍。

IF 2.5

Tremor and Other Hyperkinetic Movements Pub Date : 2024-12-17 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.975

Mark S Ledoux

{"title":"ATP1A3-Associated Paroxysmal Dystonia.","authors":"Mark S Ledoux","doi":"10.5334/tohm.975","DOIUrl":"10.5334/tohm.975","url":null,"abstract":"Background: ATP1A3 mutations are associated with a diverse set of distinct neurological syndromes and intermediate phenotypes that may include extra-neural features. Overall, genotype-phenotype correlations are weak. There are no consensus treatments.Case report: Video and clinical documentation is provided for a patient with a novel ATP1A3 mutation (GRCh38:19:41982028:C:A;NM_152296.5:c.1072G>T;p.Gly358Cys). This highly deleterious variant (Combined Annotation Dependent Depletion [CADD] score-28.8, Rare Exome Variant Ensemble Learner [REVEL] score -0.992) is not present in gnomAD v.4.1.0. Clinical manifestations include recurrent stereotypical episodes of paroxysmal dyskinesias that include jaw-opening dystonia superimposed on a baseline of developmental delay with static cognitive impairment, mild ataxia, and hypotonia. Paroxysmal episodes are triggered by emotional excitement, heat, cold, exercise, chocolate, and menses. The paroxysmal events typically last 5 min. Oxcarbazepine and clonazepam have reduced the frequency of paroxysmal episodes.Discussion: ATP1A3 mutations are associated with protean manifestations that may include paroxysmal non-epileptic events such as ataxia, dystonia, and paresis. Accordingly, ATP1A3 mutation screening, most commonly as a multi-gene panel, and assessment of variant deleteriousness and population frequency should be completed in individuals with non-classical phenotypes. Benzodiazepines and drugs that target voltage gaited sodium channels (e.g., oxcarbazepine) may be effective therapeutic options.Highlights: ATP1A3 mutations should be considered in patients with paroxysmal non-epileptic neurological events which may show clinical overlap with paroxysmal non-kinesigenic dyskinesias.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"61"},"PeriodicalIF":2.5,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11661010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877098","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 and Economic Correlates of Pharmacotherapy in Patients with Essential Tremor. 特发性震颤患者药物治疗的临床和经济相关性。

IF 2.5

Tremor and Other Hyperkinetic Movements Pub Date : 2024-12-17 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.973

Rajesh Pahwa, Kalea Colletta, Donald Higgins, Bridgette Kanz Schroader, Brian M Davis, Liana Hennum, Elan D Louis

{"title":"Clinical and Economic Correlates of Pharmacotherapy in Patients with Essential Tremor.","authors":"Rajesh Pahwa, Kalea Colletta, Donald Higgins, Bridgette Kanz Schroader, Brian M Davis, Liana Hennum, Elan D Louis","doi":"10.5334/tohm.973","DOIUrl":"10.5334/tohm.973","url":null,"abstract":"Background: Essential tremor (ET) is among the most common movement disorders, yet there are few treatment options. Medications have limited efficacy and adverse effects; thus, patients often discontinue pharmacotherapy or take several medications in combination. We evaluated the economic correlates (healthcare resource utilization [HCRU] and costs) and comorbidities among adults with and without ET and among subgroups of patients with ET prescribed 0 to ≥3 ET medications.Method: This was a retrospective cohort study using claims data from the Merative Market Scan Research Databases (1/1/2017-1/31/2022). Patients were categorized as commercially insured (22-<65 years) or Medicare (≥65 years) and stratified into 3 subgroups: patients with untreated ET, patients with treated ET, and non-ET patients. The index date was the date of first ET diagnosis or a random date (non-ET patients); post-index follow-up was 24 months.Results: There were 32,984 ET patients (n = 22,641 commercial; n = 10,343 Medicare) and 7,588,080 non-ET patients (n = 7,158,471 commercial; n = 429,609 Medicare). ET patients in both commercial and Medicare populations filled a numerically greater number of unique medications, had a higher numerical prevalence of comorbidities (ie, anxiety, depression, falls), and had numerically greater HCRU and costs than non-ET patients. Most of these numerical trends increased commensurately with increasing number of ET medications.Conclusions: Compared to non-ET patients, ET patients have higher healthcare costs and utilization, which positively correlated with the number of ET medications. ET patients often have numerically more comorbidities compared to non-ET patients. This analysis demonstrates the medical complexity of ET patients and calls attention to the need for additional therapeutic options.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"60"},"PeriodicalIF":2.5,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11661014/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877186","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

Postural Tremor Caused by Hirayama Disease Mimicking Essential Tremor. 平山症引起的姿势性震颤模仿本质性震颤。

IF 2.5

Tremor and Other Hyperkinetic Movements Pub Date : 2024-12-10 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.962

Nina Xie, Qiying Sun, Guang Yang

{"title":"Postural Tremor Caused by Hirayama Disease Mimicking Essential Tremor.","authors":"Nina Xie, Qiying Sun, Guang Yang","doi":"10.5334/tohm.962","DOIUrl":"10.5334/tohm.962","url":null,"abstract":"Background: Postural tremor is a common clinical situation. Timely and accurate diagnosis is essential for effective treatment. However, clinicians often encounter difficulties distinguishing between essential tremor and other etiologies due to overlapping symptoms and atypical features.Case description: A twenty-year-old man presented with a five-year history of progressive hand tremors. Neurological examinations were notable for asymmetric postural tremors in both hands, with mild distal finger muscle wasting and subtle kinetic tremors. NCS/EMG revealed neurogenic changes in the C7-C8 myotome. Upon neck flexion, cervical spinal cord MRI revealed prominent flow voids in the widened posterior epidural space from C6 to T3 levels. We diagnosed him with Hirayama disease.Discussion: Hand tremors caused by Hirayama disease have distinctive patterns from that of essential tremor (ET). In our patient, the prominent postural tremor, the involvement of finger joints rather than writs and elbows, and the spiral drawing waveforms argue against ET. Moreover, the onset age, absence of family history, and right-hand intrinsic muscle wasting are also red flag signs. Recognition of these clinical nuances is important to avoid misdiagnosis.Highlights: Our case highlights the importance of thorough physical examinations and the necessity of considering Hirayama disease in young men presenting with hand tremors.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"59"},"PeriodicalIF":2.5,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11639689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829591","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

Decoding Dystonia in Autoimmune Disorders: A Scoping Review. 解码自身免疫性疾病中的肌张力障碍：范围综述。

IF 2.5

Tremor and Other Hyperkinetic Movements Pub Date : 2024-12-06 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.915

Debayan Dutta, Ravi Yadav

{"title":"Decoding Dystonia in Autoimmune Disorders: A Scoping Review.","authors":"Debayan Dutta, Ravi Yadav","doi":"10.5334/tohm.915","DOIUrl":"10.5334/tohm.915","url":null,"abstract":"Background: Dystonia is a common hyperkinetic movement disorder observed in various genetic, infective, drug-induced, and autoimmune disorders. Autoimmune disorders can present with isolated or combined acute or subacute dystonia. The pattern and approach to dystonia in autoimmune disorders are poorly described and have never been established in a structured manner.Objective: This scoping review aims to summarize all available clinical literature and formulate a pattern and approach to dystonia in different autoimmune disorders.Methods: We included one hundred and three articles in this scoping review. Most articles identified were case reports or case series.Results: In this review, we analysed data from 103 articles and summarized the epidemiological, clinical, and diagnostic features of dystonia associated with different autoimmune diseases. We highlight that dystonia can be isolated or combined in various autoimmune conditions and is responsive to immunotherapy. We point out the patterns of dystonia and associated neurological features and investigations that can suggest the underlying autoimmune nature, which can guide the most appropriate treatment.Discussion: The clinical pattern of dystonia can be a unique feature in many autoimmune disorders. In isolated subacute dystonia, the presence of autoantibodies could have a temporal association, or this is just an epiphenomenon to be evaluated in further research.Highlights: Many autoimmune disorders can present with isolated or combined dystonia.Subacute onset focal or segmental dystonia (craniocervical dystonia or limb dystonia) or hemidystonia could be secondary to an autoimmune condition and warrants investigations.They have a relapsing or progressive course.They usually have a good response to early immunotherapy.Symptomatic treatment, including botulinum toxin, can be useful in focal dystonia.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"60"},"PeriodicalIF":2.5,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802192","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

Risk of Spreading in Adult-onset Dystonia. 在成人发病的肌张力障碍中传播的风险。

IF 2.5

Tremor and Other Hyperkinetic Movements Pub Date : 2024-12-04 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.952

Esra Kochan Kizilkilic, Nursena Erener, Mustafa Meric, Nurten Uzun Adatepe, Aysegul Gunduz

{"title":"Risk of Spreading in Adult-onset Dystonia.","authors":"Esra Kochan Kizilkilic, Nursena Erener, Mustafa Meric, Nurten Uzun Adatepe, Aysegul Gunduz","doi":"10.5334/tohm.952","DOIUrl":"10.5334/tohm.952","url":null,"abstract":"Background: Adult-onset dystonia can also spread to other parts of the body, although it is not as common as childhood-onset dystonia.Objective: Our study aimed to examine the clinical factors determining spreading patterns in all adult-onset dystonia types.Methods: We retrospectively analyzed the medical records of patients with a diagnosis of isolated dystonia followed longitudinally at our center. We included patients reporting symptom onset after 18 years. We then compared the clinical factors between groups with and without spreading.Results: Among 434 patients (396 focal, 29 segmental, and nine generalized onset dystonia. mean follow-up of 8.6 ± 7.8 years), 48 (11.1%) experienced spread of dystonia, with 37 progressing from focal to segmental, two from focal to generalized, two from segmental to generalized, and seven from focal to segmental to generalized dystonia. Blepharospasm was the most common focal dystonia noted to spread, followed by oromandibular dystonia, cervical dystonia, laryngeal dystonia, and upper extremity dystonia, in decreasing order. A spreading pattern was observed in approximately one in 10 dystonia patients, and the spreading was more frequent in the segmental dystonia group. While there was no difference between the spreading groups regarding sensory tricks, tremor, and gender, family history was more common in the non-spreading group (p = 0.023). Older age at onset was independently associated with increased odds of spreading (hazards ratio: 1.054, p < 0.001, B = 0.053).Conclusion: Although risk factors for spread are variable, the underlying mechanisms are not fully known. Genetic factors may be possibly related to the spread, and future studies are needed on this subject.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"59"},"PeriodicalIF":2.5,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11623075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802194","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

Early Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism. RAB39B x连锁帕金森病早期左旋多巴诱导的运动并发症。

IF 2.5

Tremor and Other Hyperkinetic Movements Pub Date : 2024-11-25 eCollection Date: 2024-01-01 DOI: 10.5334/tohm.946

Laurane Mackels, David Aktan, Frédérique Depierreux

引用次数: 0

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

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

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

引用次数: 0