Tremor and Other Hyperkinetic Movements最新文献

{"title":"Reasons for Hospitalizations and Emergency Department Visits Among Patients with Essential Tremor.","authors":"Susanna Howard, Ellie Gabriel, Ritesh Karsalia, Dominick Macaluso, Jesse Y Hsu, Liming Qiu, Neil R Malhotra, Iahn Cajigas, Whitley Aamodt, John Farrar","doi":"10.5334/tohm.934","DOIUrl":"10.5334/tohm.934","url":null,"abstract":"<p><strong>Background: </strong>Prior studies suggest that patients with essential tremor (ET) have increased rates of healthcare utilization, but the reason for this increased use is unknown. The objective of this study was to evaluate the reasons for healthcare use among ET patients.</p><p><strong>Methods: </strong>This was a retrospective cross-sectional study of ET patients with an admission or emergency department (ED) visit at a tertiary health system from 2018-2023. Patients were matched on an encounter level with control patients based on propensity scores incorporating age, sex, race, and co-morbid conditions. The primary outcome was the odds of an encounter for each diagnostic category comparing ET patients with matched controls.</p><p><strong>Results: </strong>Only inpatient admissions for neurologic diagnoses were more likely for ET compared to control patients (odds ratio (OR) 3.73, 95% confidence interval (CI) 2.54 - 5.49, p < 0.001). Once admissions related to the surgical treatment of tremor were excluded, admissions for neurologic diagnoses were equally likely among ET and control patients (OR 0.96, 95% CI 0.59 - 1.57, p = 0.88).</p><p><strong>Discussion: </strong>Surgical treatment of tremor appears to be a key driver of healthcare use among ET patients. Future investigations should examine the pattern of healthcare use of ET patients before and after surgery.</p><p><strong>Highlights: </strong>Prior studies have shown increased healthcare use among essential tremor (ET) patients. The objective of this study was to evaluate the reasons for healthcare use among ET patients compared to matched control patients. Surgical treatment of tremor was found to be a key driver of healthcare use among ET patients.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"47"},"PeriodicalIF":2.5,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11428660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142354583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Directional Stimulus-Evoked Pallidal Electrophysiology in Primary Dystonia.","authors":"Aditya V Boddu, Sarah Brinkerhoff, Adam E Bashir, Camerron M Crowder, Mohammed Awad, Christopher L Gonzalez, Harrison C Walker","doi":"10.5334/tohm.916","DOIUrl":"10.5334/tohm.916","url":null,"abstract":"<p><strong>Background: </strong>Deep brain stimulation for dystonia improves motor symptoms but variable and delayed responses challenge patient selection, targeting, and device programming.</p><p><strong>Case report: </strong>Here we studied intracranial electrophysiology in a patient with primary dystonia and observed evoked resonant neural activity (ERNA) in the globus pallidus interna. These local stimulus-evoked potentials displayed refractory periods and paired-pulse facilitation at clinically relevant interstimulus intervals. Sensing from directional DBS contacts localized ERNA to an effective stimulation site in the ventral posterolateral portion of the pallidum.</p><p><strong>Discussion: </strong>To the best of our knowledge, this is the first observation of ERNA in the globus pallidus interna in a patient with primary dystonia. Stimulus-evoked activity could eventually guide both directional and adaptive stimulation for dystonia and other complex neuropsychiatric disorders.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"46"},"PeriodicalIF":2.5,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond Pallidal or Subthalamic Deep Brain Stimulation to Treat Dystonia.","authors":"Vedant Garg, Venkat Srikar Lavu, Grace Hey, Brett Winter, Marcos Santana Firme, Justin D Hilliard, Coralie De Hemptinne, Michael S Okun, Joshua K Wong","doi":"10.5334/tohm.935","DOIUrl":"10.5334/tohm.935","url":null,"abstract":"<p><p>Deep brain stimulation of the subthalamic nucleus and globus pallidus internus is approved by the Food and Drug Administration for treating dystonia. Both targets have shown effectiveness in improving symptoms, but post-operative outcomes can vary significantly among patients. This variability has led researchers to explore alternative neuromodulation targets that might offer more consistent results. Emerging research has highlighted several promising new targets for DBS in dystonia. This review examines pre-clinical and clinical data on novel DBS targets for dystonia and explores non-invasive neuromodulation studies that shed light on the disease's underlying pathological circuitry.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"45"},"PeriodicalIF":2.5,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Movement Disorders in Brain Sagging Syndrome Due To Spontaneous Intracranial Hypotension: A Review.","authors":"Abhigyan Datta, Alfonso Fasano, Abhishek Lenka","doi":"10.5334/tohm.914","DOIUrl":"10.5334/tohm.914","url":null,"abstract":"<p><strong>Background: </strong>Spontaneous intracranial hypotension (SIH), a treatable condition that stems from spinal leakage of cerebrospinal fluid, usually presents with orthostatic headache, nausea, vomiting, dizziness, and tinnitus. A subset of patients, especially those with sagging of brain structures (\"brain sagging syndrome\"), develop several movement abnormalities. As SIH is treatable with epidural blood patch (EBP), movement disorders neurologists should be familiar with this syndrome.</p><p><strong>Method: </strong>The authors performed a literature search in PubMed in July 2024 using the Boolean phrase- <i>((\"Brain sagging\")OR(\"Intracranial hypotension\"))AND((((((((((\"Movement disorders\")OR(\"Involuntary movements\"))OR(\"Tremor\"))OR(\"Dystonia\"))OR(\"Chorea\"))OR(\"Ballismus\"))OR(\"Myorhythmia\"))OR (\"Tic\"))OR(\"Ataxia\"))OR(\"Parkinsonism\"))</i>.</p><p><strong>Result: </strong>We tabulated 21 case reports/series that highlighted the presence of movement disorders. The most reported phenomenology is gait unsteadiness. While it usually emerges in the background of the classic SIH symptoms, rarely, patients may present with isolated gait dysfunction. Tremor is the second most reported phenomenology with postural and kinetic tremor being the common subtypes. Holmes tremor has also been reported in SIH. Other reported phenomenologies are parkinsonism, chorea, and dystonia. One study reported a unique phenomenology i.e. compulsive repetitive flexion and breath holding in 35.3% of the patients. In majority of the patients, EBP resulted in substantial clinical and radiological improvement.</p><p><strong>Discussion: </strong>Brain sagging syndrome due to SIH may present with a wide range of movement disorders. Mechanical distortion of the posterior fossa and subcortical structures result in the emergence of such movement abnormality. SIH adds to the list of conditions that result in \"treatable movement disorders.\" Therefore, movement disorders neurologists should be versed with the diagnosis and clinical features of this condition.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"44"},"PeriodicalIF":2.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11378704/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142155049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring White Matter Microstructure with Symptom Severity and Outcomes Following Deep Brain Stimulation in Tremor Syndromes.","authors":"Luke Andrews, Simon Keller, Corey Ratcliffe, Jibril Osman-Farah, Hilary Shepherd, Maneesh Bhojak, Antonella Macerollo","doi":"10.5334/tohm.904","DOIUrl":"10.5334/tohm.904","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) and dystonic tremor (DT) are movement disorders that cause debilitating symptoms, significantly impacting daily activities and quality of life. A poor understanding of their pathophysiology, as well as the mediators of clinical outcomes following deep brain stimulation (DBS), highlights the need for biomarkers to accurately characterise and optimally treat patients.</p><p><strong>Objectives: </strong>We assessed the white matter microstructure of pathways implicated in the pathophysiology and therapeutic intervention in a retrospective cohort of patients with DT (n = 17) and ET (n = 19). We aimed to identity associations between white matter microstructure, upper limb tremor severity, and tremor improvement following DBS.</p><p><strong>Methods: </strong>A fixel-based analysis pipeline was implemented to investigate white matter microstructural metrics in the whole brain, cerebello-thalamic pathways and tracts connected to stimulation volumes following DBS. Associations with preoperative and postoperative severity were analysed within each disorder group and across combined disorder groups.</p><p><strong>Results: </strong>DBS led to significant improvements in both groups. No group differences in stimulation positions were identified. When white matter microstructural data was aligned according to the maximally affected upper limb, increased fiber density, and combined fiber density & cross-section of fixels in the left cerebellum were associated with greater tremor severity across DT and ET patients. White matter microstructure did not show associations with postoperative changes in cerebello-thalamic pathways, or tracts connected to stimulation volumes.</p><p><strong>Discussion: </strong>Diffusion changes of the cerebellum are associated with the severity of upper limb tremor and appear to overlap in essential or dystonic tremor disorders.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"43"},"PeriodicalIF":2.5,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11363889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142112385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Clinical, Radiological and Genetic Spectrum of <i>PLA2G6</i>-Associated Neurodegeneration: An Experience From a Tertiary Center.","authors":"Vikram V Holla, M M Samim, Riyanka Kumari, Debjyoti Dhar, Prashant Phulpagar, Neeharika Sriram, Shweta Prasad, Jitender Saini, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal","doi":"10.5334/tohm.897","DOIUrl":"10.5334/tohm.897","url":null,"abstract":"<p><strong>Background: </strong>Despite being the second most common type of neurodegeneration with brain iron accumulation, there is limited literature on <i>PLA2G6</i>-associated neurodegeneration (PLAN) within the Asian ethnicity, particularly in the Indian context.</p><p><strong>Methods: </strong>We conducted a retrospective observational study on patients with pathogenic/likely pathogenic <i>PLA2G6</i> variants based on exome sequencing.</p><p><strong>Results: </strong>We identified 26 patients (22 families, 15 males) of genetically-confirmed PLAN with a median age of 22.5 years and age at onset of 13.0 years, encompassing various subtypes: infantile neuroaxonal dystrophy (5/26;19.2%), atypical neuroaxonal dystrophy (3/26;11.5%), dystonia-parkinsonism (5/26;19.2%), dystonia-parkinsonism-myoclonus (n = 4, 15.38%), early-onset Parkinson's disease (2/26;7.7%), complex dystonia (2/26;7.7%), and complicated hereditary spastic paraparesis (cHSP; 5/26;19.2%). The common initial symptoms included walking difficulty (7/26;26.9%), developmental regression (6/26;23.1%), and slowness (4/26;15.4%). Dystonia (14/26;53.8%), followed by parkinsonism (11/26; 42.3%), was the most common motor symptom. Non-motor symptoms included cognitive decline (12/26;46.2%) and behavioral changes (6/26;23.1%). Neuroimaging revealed cerebellar atrophy in 23/26 (88.5%) patients and claval hypertrophy in 80% (4/5) of INAD patients. Levodopa responsiveness was noted in 12 of 14 patients with parkinsonism/dystonia who received levodopa, and dyskinesia was noted in 10/11 patients. Genetic analysis revealed a total of 19 unique variants in <i>PLA2G6</i> gene, of which 11 were novel. Twelve patients harbored the c.2222G>A variant, which is predominantly seen in Asian subpopulations.</p><p><strong>Conclusions: </strong>The study introduces 26 new patients of PLAN and 12 patients associated with the c.2222G>A variant, potentially forming the most extensive single center series to date. It also expands the phenotypic, neuroimaging, and genotypic spectrum of PLAN.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"41"},"PeriodicalIF":2.5,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11342831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of Low-Frequency Deep Brain Stimulation in Bilateral Zona Incerta for a Patient With Tremor and Cerebellar Ataxia.","authors":"Ami Kumar, Kristen L Matulis, Zena A Fadel, Alexander S Fanning, Christian J Amlang, Sheng-Han Kuo","doi":"10.5334/tohm.925","DOIUrl":"10.5334/tohm.925","url":null,"abstract":"<p><strong>Background: </strong>Whether low-frequency deep brain stimulation (DBS) in the caudal zona incerta (cZi) can improve cerebellar ataxia symptoms remains unexplored.</p><p><strong>Case report: </strong>We report a 66-year-old man initially diagnosed with essential tremor and subsequently developed cerebellar ataxia after bilateral cZi DBS implantation. We tested the effects of low-frequency DBS stimulations (sham, 10 Hz, 15 Hz, 30 Hz) on ataxia severity.</p><p><strong>Discussion: </strong>Low-frequency cZi DBS improves ataxic speech at 30 Hz, but not at 10 Hz or 15 Hz in this patient. Low-frequency DBS did not improve gait or stance. Therefore, low-frequency stimulation may play a role in treating ataxic speech.</p><p><strong>Highlights: </strong>The finding of this case study suggests that bilateral low-frequency DBS at 30 Hz in the caudal zona incerta has the potential to improve ataxic speech but has limited impact on gait and stance. The involvement of zona incerta in speech warrants further investigation.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"42"},"PeriodicalIF":2.5,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11342832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Featuring the Features of the Featureless Tremor: A Statement about Essential Tremor.","authors":"Elan D Louis","doi":"10.5334/tohm.931","DOIUrl":"10.5334/tohm.931","url":null,"abstract":"","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"40"},"PeriodicalIF":2.5,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11276397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141789122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pseudo-Orthostatic Tremor in Graves' Disease: A Possible Early Sign of Parkinsonism?","authors":"Davide Comolli, Simone Regalbuto, Sebastiano Arceri, Giuseppe Trifirò, Alessandra Calculli, Carlo Fazio, Piergiorgio Grillo, Massimiliano Todisco, Antonio Pisani","doi":"10.5334/tohm.924","DOIUrl":"10.5334/tohm.924","url":null,"abstract":"<p><strong>Background: </strong>Pseudo-orthostatic tremor is a hyperkinetic movement disorder usually associated with other neurological comorbidities, mainly Parkinson's disease.</p><p><strong>Case report: </strong>A 65-year-old male presented with unsteadiness and leg tremor while standing. Electrophysiological evaluation confirmed the presence of pseudo-orthostatic tremor. Blood test showed an undiagnosed Graves' disease. A complete remission of tremor was achieved with methimazole. Dopamine transporter scintigraphy showed a mild reduction of the striatal binding, bilaterally.</p><p><strong>Discussion: </strong>Graves' disease can be associated with pseudo-orthostatic tremor. Thyroid function should be assessed in patients complaining of unsteadiness. The causative role of hyperthyroidism in determining dopaminergic degeneration and uncovering subclinical parkinsonism warrants further investigations.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"39"},"PeriodicalIF":2.5,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11276402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141789146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Horizontal Pendular Nystagmus and Ataxia Secondary to Severe Hypomagnesemia.","authors":"Marcos Polanco, María Rivera, Leire Manrique, Carmen Lage, Jon Infante","doi":"10.5334/tohm.910","DOIUrl":"10.5334/tohm.910","url":null,"abstract":"<p><strong>Background: </strong>Severe hypomagnesemia is an increasingly recognized cause of acute and reversible cerebellar ataxia, often accompanied by cerebellar oculomotor signs such as jerky horizontal or downbeat nystagmus and very rarely ocular flutter.</p><p><strong>Phenomenology shown: </strong>This video illustrates horizontal pendular nystagmus in a patient with acute onset cerebellar ataxia associated with severe hypomagnesemia.</p><p><strong>Educational value: </strong>Acquired pendular nystagmus can be distinguished from macrosaccadic oscillations and ocular flutter in that the former is composed of two slow phases of equal velocity and the latter of two fast phases of saccadic type with or without intersaccadic interval, respectively. It is most commonly associated with demyelinating, toxic, metabolic, and genetic disorders, but has not been reported in association with severe hypomagnesemia.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"14 ","pages":"38"},"PeriodicalIF":2.5,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11277473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141789145","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}