Tremor and Other Hyperkinetic Movements最新文献

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Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report. 纵向脊髓空洞、颈肌张力障碍和行动性震颤ⅰ型鼻尖毛综合征1例报告。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2025-12-31 eCollection Date: 2025-01-01 DOI: 10.5334/tohm.1116
Bogdana Petko, Brent D Weinberg, Jaime Vengoechea, Matthew Gary, Paul A Beach
{"title":"Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.","authors":"Bogdana Petko, Brent D Weinberg, Jaime Vengoechea, Matthew Gary, Paul A Beach","doi":"10.5334/tohm.1116","DOIUrl":"10.5334/tohm.1116","url":null,"abstract":"<p><strong>Background: </strong>Trichorhinophalangeal syndrome type I (TRPS I) is a rare, autosomal dominant disorder characterized by facial abnormalities, sparse hair, and skeletal deformities, including the skull base.</p><p><strong>Case report: </strong>We report the case of a patient with TRPS I who was found to have syringomyelia and a movement disorder complex including action tremor and cervical dystonia.</p><p><strong>Discussion: </strong>Syringomyelia has been reported to occur in TRPS I secondary to posterior fossa abnormalities. We postulate that the patient's cervical dystonia and action tremor are secondary to syringomyelia. The authors review possible mechanisms and review literature of similar cases.</p><p><strong>Highlights: </strong>This case report describes a patient with trichorhinophalangeal syndrome type I (TRPS I) with syringomyelia as well as action tremor and cervical dystonia. To our knowledge, this is the first report to demonstrate a triad of syringomyelia and two associated movement disorders with sequelae of TRPS I likely the ultimate cause.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"66"},"PeriodicalIF":1.9,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145900862","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
The Advantage of Microelectrode Recording When Pneumocephalus Threatens the Precise Placement of a Deep Brain Stimulator. 当脑气威胁到深部脑刺激器的精确放置时,微电极记录的优势。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2025-12-29 eCollection Date: 2025-01-01 DOI: 10.5334/tohm.1098
Nur Walker-Pizarro, Sara Robledo-Rengifo, A Enrique Martinez-Nunez, Tejas R Mehta, Dorian M Kusyk, Kelly D Foote, Joshua K Wong, Michael S Okun
{"title":"The Advantage of Microelectrode Recording When Pneumocephalus Threatens the Precise Placement of a Deep Brain Stimulator.","authors":"Nur Walker-Pizarro, Sara Robledo-Rengifo, A Enrique Martinez-Nunez, Tejas R Mehta, Dorian M Kusyk, Kelly D Foote, Joshua K Wong, Michael S Okun","doi":"10.5334/tohm.1098","DOIUrl":"10.5334/tohm.1098","url":null,"abstract":"<p><strong>Clinical vignette: </strong>A 69-year-old woman with Parkinson's disease underwent left subthalamic nucleus (STN) deep brain stimulation (DBS). Intraoperative awake microelectrode recording (MER) was used to confirm targeting.</p><p><strong>Clinical dilemma: </strong>MER and stimulation mapping revealed a short STN segment on the central pass, absent STN activity on the lateral pass, and low thresholds for capsular side effects. The data suggested a mismatch between the planned imaging-based trajectory and the localization of STN using physiology.</p><p><strong>Clinical solution: </strong>A substantial adjustment based on MER was required, giving up the 'fork' in the brain. The lead was repositioned 3.4 mm posterior and 2.9 mm medial to the initial central pass (4.9 mm vector). Final placement produced robust motor benefit and a desirable therapeutic window for programming.</p><p><strong>Gap in knowledge: </strong>Asleep image-guided workflows assume static intracranial anatomy: pneumocephalus can induce millimetric brain shift. This case demonstrated a pneumocephalus-related displacement and how MER, stimulation thresholds, and postoperative atlas-based validation can be employed to correct it.</p><p><strong>Highlights: </strong>This case illustrates how intraoperative pneumocephalus can compromise targeting in deep brain stimulation.Microelectrode recording provided critical confirmation, guided corrective lead adjustments, and safeguarded therapeutic outcomes, emphasizing the value of physiology-based targeting alongside modern imaging techniques.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"65"},"PeriodicalIF":1.9,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12758098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145901025","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 Report of Abdominal Myoclonus Following Anterior Cerebral Artery Stroke. 脑前动脉卒中后腹肌阵挛1例报告。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2025-12-17 eCollection Date: 2025-01-01 DOI: 10.5334/tohm.1119
Ksenia Nokhrina, Jana Wold, Meera Raghavan, Guillaume Lamotte
{"title":"A Case Report of Abdominal Myoclonus Following Anterior Cerebral Artery Stroke.","authors":"Ksenia Nokhrina, Jana Wold, Meera Raghavan, Guillaume Lamotte","doi":"10.5334/tohm.1119","DOIUrl":"10.5334/tohm.1119","url":null,"abstract":"<p><strong>Background: </strong>Post-stroke movement disorders are rare. Abdominal myoclonus following anterior cerebral artery (ACA) infarction has not been previously reported.</p><p><strong>Case report: </strong>A 75-year-old man presented with acute right-sided weakness and involuntary, rhythmic contractions of the abdominal muscles. Imaging revealed an acute left ACA infarction involving the precentral gyrus. Scalp electroencephalography (EEG) showed no epileptiform discharges. Other secondary causes of myoclonus were ruled out. Abdominal myoclonus resolved after intravenous levetiracetam.</p><p><strong>Discussion: </strong>This case highlights cortical abdominal myoclonus as a rare manifestation of ACA ischemic stroke. Epileptiform abnormalities on EEG are often not found. Treatment with an antiepileptic medication may resolve the myoclonus.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"64"},"PeriodicalIF":1.9,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12716242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145805647","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
Archimedes Spiral Looping in Functional and Essential Tremor. 功能性和特发性震颤中的阿基米德螺旋环。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2025-12-15 eCollection Date: 2025-01-01 DOI: 10.5334/tohm.1105
Aditya Murgai, Gala Prado Miranda, Guillermo Trocha Ramos
{"title":"Archimedes Spiral Looping in Functional and Essential Tremor.","authors":"Aditya Murgai, Gala Prado Miranda, Guillermo Trocha Ramos","doi":"10.5334/tohm.1105","DOIUrl":"10.5334/tohm.1105","url":null,"abstract":"<p><p>Functional tremor (FT) is the most common functional movement disorder, but diagnosis can be challenging. Archimedes spiral drawings are a useful bedside tool, and looping, also known as the \"stretch slinky\" sign, has been described as a feature of FT. However, the prevalence of looping in FT and its occurrence in essential tremor (ET) are unclear. This retrospective study examined Archimedes spirals from 22 FT and 28 ET patients. Looping (≥1) was observed in 45.5% of FT spirals and 60.7% of ET spirals, with no significant difference in loop counts between groups (Mann-Whitney U test). A loop-count threshold of ≥7 had the highest positive predictive value for FT (PPV 0.75) and high specificity (0.96), but poor sensitivity (0.14). Receiver operating characteristic analysis yielded an AUC of 0.46. Looping in Archimedes spirals occurs in both FT and ET, and loop counts alone show poor discriminative ability. A loop count ≥7, although insensitive, is highly specific for FT and may provide supportive evidence in the full clinical context.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"63"},"PeriodicalIF":1.9,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12716240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145805719","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
Chorea in Hereditary Leukodystrophies - Overview of Two Cases. 遗传性白质营养不良的舞蹈病-两例综述。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2025-12-11 eCollection Date: 2025-01-01 DOI: 10.5334/tohm.1103
Andona Milovanović, Milica Ječmenica-Lukić, Nina Mazalica, Vanja Radišić, Maja Đorđević-Milošević, Ana Marjanović, Marija Branković, Vladana Marković, Nikola Kresojević, Vladimir Kostić, Nataša Dragašević-Mišković
{"title":"Chorea in Hereditary Leukodystrophies - Overview of Two Cases.","authors":"Andona Milovanović, Milica Ječmenica-Lukić, Nina Mazalica, Vanja Radišić, Maja Đorđević-Milošević, Ana Marjanović, Marija Branković, Vladana Marković, Nikola Kresojević, Vladimir Kostić, Nataša Dragašević-Mišković","doi":"10.5334/tohm.1103","DOIUrl":"10.5334/tohm.1103","url":null,"abstract":"<p><strong>Background: </strong>Leukodystrophies are inherited heterogeneous diseases that are predominantly characterized by degenerative changes in the white matter of the central nervous system. These disorders begin both in childhood and in adulthood and have a complex phenotype that includes involuntary movements specifically chorea.</p><p><strong>Methods: </strong>This paper describes two female patients for whom generalized chorea was the primary clinical manifestation of leukodystrophy. Literature search was done through PubMed database with aim to included articles that described case reports of patients (both adult and childhood-onset) with leukodystrophy presenting with chorea in patients with metachromatic leukodystrophy (MLD) or L-2-hydroxiglutaric aciduria (L2HGA).</p><p><strong>Results: </strong>The first case presents MLD with adult-onset chorea combined with cognitive-behavioral changes mimicking Huntington's disease, while the second case is caused by L2HGA and the diagnosis had been established in the adulthood. The search resulted in 163 articles, but only one in the end described phenotype suggestive of dyskinetic movement disorder.</p><p><strong>Discussion: </strong>Leukodystrophies, though primarily white matter disorders, can present with involuntary movements. Our cases with MLD and L2HGA highlight adult patients with chorea as a key manifestations, so metabolic and genetic testing is crucial in unexplained chorea.</p><p><strong>Highlights: </strong>Leukodystrophies cause white matter degeneration and involuntary movements. We present two cases: one with MLD mimicking Huntington's disease and one with L2HGA diagnosed in the adulthood. These clinical manifestations have not yet been precisely reported in the literature. This manuscript present rare adult-onset chorea in leukodystrophies and expands phenotypic diversity.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"62"},"PeriodicalIF":1.9,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12700142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145757686","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
"Case Report: Klinefelter Syndrome Presenting With Dystonic Tremor: Expanding the Phenotypic Spectrum and Therapeutic Option". 病例报告:Klinefelter综合征表现为张力性震颤:扩大表型谱和治疗选择。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2025-12-05 eCollection Date: 2025-01-01 DOI: 10.5334/tohm.1084
Debayan Dutta, Jacky Ganguly, Purba Basu, Soumava Mukherjee, Hrishikesh Kumar
{"title":"\"Case Report: Klinefelter Syndrome Presenting With Dystonic Tremor: Expanding the Phenotypic Spectrum and Therapeutic Option\".","authors":"Debayan Dutta, Jacky Ganguly, Purba Basu, Soumava Mukherjee, Hrishikesh Kumar","doi":"10.5334/tohm.1084","DOIUrl":"10.5334/tohm.1084","url":null,"abstract":"<p><strong>Background: </strong>Klinefelter syndrome (KS) is associated with tremor and dystonia, but the exact phenomenology and neurophysiology are not well described.</p><p><strong>Case report: </strong>We present a case of a 51-year-old married male who presented with segmental dystonia affecting the bilateral upper limbs and lower face, accompanied by perioral dyskinesia and a dystonic tremor that was more pronounced on the left side. There was no family history of similar symptoms. His evaluation revealed a history of infertility and the presence of gynecomastia, prompting further endocrine assessment, which demonstrated hypergonadotropic hypogonadism. This finding guided the diagnosis of Klinefelter syndrome (KS), confirmed by a 48,XXY karyotype. He was treated with antitremor medications and Botulinum toxin (BoNT-A), which led to moderate improvement.</p><p><strong>Discussion: </strong>Our case represents the fourth reported case of KS with dystonic tremor in the literature.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"61"},"PeriodicalIF":1.9,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12679987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145701981","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 Perception of Vocal Tremor Severity and its Relationship to Acoustic Voice Outcomes: An Exploratory Study. 患者对声带震颤严重程度的感知及其与声学语音结果的关系:一项探索性研究。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2025-12-04 eCollection Date: 2025-01-01 DOI: 10.5334/tohm.1087
James C Borders, Gary Gartling, Elizabeth Hary, Milan R Amin, Michelle S Troche, Julie Barkmeier-Kraemer, Ryan C Branski
{"title":"Patient Perception of Vocal Tremor Severity and its Relationship to Acoustic Voice Outcomes: An Exploratory Study.","authors":"James C Borders, Gary Gartling, Elizabeth Hary, Milan R Amin, Michelle S Troche, Julie Barkmeier-Kraemer, Ryan C Branski","doi":"10.5334/tohm.1087","DOIUrl":"10.5334/tohm.1087","url":null,"abstract":"<p><strong>Background: </strong>Vocal tremor profoundly impacts communication, social participation, and quality of life. Although expert auditory-perceptual ratings of vocal tremor severity align with acoustic voice outcomes (e.g., extent of frequency (<i>f</i> <sub>o</sub>) and intensity modulation), patient perception of their voice remains unexamined despite its clinical importance. This study aimed to characterize the relationship between patient-reported vocal tremor severity and acoustic voice outcomes at baseline and after botulinum toxin injections.</p><p><strong>Method: </strong>Patients diagnosed with vocal tremor affecting multiple structures (ETvt) or tremor only observed in the larynx (LDvt) were recruited. Participants completed the voice section of the Quality of Life in Essential Tremor questionnaire to assess patient perception and performed sustained /ɑ/ at a comfortable pitch and volume, from which acoustic voice outcomes (rate and extent of fundamental frequency [<i>f<sub>o</sub></i> ] and amplitude [dB] modulation) were derived. A subset of participants received botulinum toxin injections and were reassessed within the therapeutic window (within 12 weeks).</p><p><strong>Results: </strong>Thirty participants (29 females; mean age = 72 years, SD = 11.40) were analyzed. Participants who rated their vocal tremor as \"severe\" demonstrated higher rate <i>f<sub>o</sub></i> (β = 1.20, 95% CI: -0.10, 2.60 Hz) and rate dB (β = 2.30, 95% CI: 0.50, 4.10 Hz) compared to participants who rated their tremor as \"moderate\". Participants who rated their tremor as \"marked\" demonstrated higher rate <i>f<sub>o</sub></i> (β = 1.50, 95% CI: 0.30, 2.60 Hz) compared to \"moderate\" ratings. Improvements in patient perception of vocal tremor and acoustic outcomes were highly heterogenous among seven participants who received botulinum toxin.</p><p><strong>Discussion: </strong>Participants reporting more severe vocal tremor demonstrated more aberrant acoustic voice outcomes. After botulinum toxin injection, substantial heterogeneity was observed in acoustic voice measures which varied based on patient perception of change. These preliminary, exploratory findings provide a foundation for future investigations to define meaningful change in this population.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"60"},"PeriodicalIF":1.9,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12679986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145702014","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
Chorea After MR-Guided Focused Ultrasound Thalamotomy. 磁共振引导聚焦超声丘脑切开术后舞蹈病。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2025-12-02 eCollection Date: 2025-01-01 DOI: 10.5334/tohm.1085
Sara J Hooshmand, Tina Liu, Rushna Ali, Timothy Kaufmann, Vance Lehman, Bryan Klassen, Lauren Jackson
{"title":"Chorea After MR-Guided Focused Ultrasound Thalamotomy.","authors":"Sara J Hooshmand, Tina Liu, Rushna Ali, Timothy Kaufmann, Vance Lehman, Bryan Klassen, Lauren Jackson","doi":"10.5334/tohm.1085","DOIUrl":"10.5334/tohm.1085","url":null,"abstract":"<p><strong>Background: </strong>Magnetic resonance-guided focused ultrasound thalamotomy (MR-FUS) is a promising, noninvasive treatment for medically refractory essential tremor (ET). It is well tolerated, with the most common side effects being sensory and gait disturbances.</p><p><strong>Case report: </strong>A 69-year-old man presented with orofacial dyskinesias, left hemichorea, and motor impersistence 1 week after MR-FUS of the right ventralis intermedius nucleus for ET. MRI brain demonstrated right ventral thalamus T2 hyperintensity with inferolateral extension abutting the subthalamic nucleus (STN).</p><p><strong>Discussion: </strong>Chorea is a rare side effect of MR-FUS, but may be present with inferolateral lesions extension to the STN, disrupting the indirect pathway.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"59"},"PeriodicalIF":1.9,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12679988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145701933","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
Thalamic Structural Connectivity Alterations in Essential Tremor Associated with REM Sleep Behaviour Disorder. 特发性震颤与快速眼动睡眠行为障碍相关的丘脑结构连通性改变。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2025-11-18 eCollection Date: 2025-01-01 DOI: 10.5334/tohm.1088
Elisa Bortolin, Camilla Calomino, Rita Nisticò, Giulia Bruschi, Maria V Corbari, Andrea Quattrone, Aldo Quattrone, Fabiana Novellino, Maria Salsone
{"title":"Thalamic Structural Connectivity Alterations in Essential Tremor Associated with REM Sleep Behaviour Disorder.","authors":"Elisa Bortolin, Camilla Calomino, Rita Nisticò, Giulia Bruschi, Maria V Corbari, Andrea Quattrone, Aldo Quattrone, Fabiana Novellino, Maria Salsone","doi":"10.5334/tohm.1088","DOIUrl":"10.5334/tohm.1088","url":null,"abstract":"<p><strong>Background: </strong>REM sleep behavior disorder (RBD) is a rare REM-parasomnia, now considered a non-motor symptom of Essential Tremor (ET). Distinct structural alterations in the thalamus, as a key region modulating REM sleep, have been reported in patients with idiopathic and Parkinson's disease-related forms. In this work, we investigated thalamic regions in ET patients with and without RBD, using a graph theoretical analysis.</p><p><strong>Methods: </strong>MRI data were acquired from 96 participants (41 ET, 10 ET with polysomnographic-confirmed RBD, ET-RBD, 45 controls). T1-weighted scans were obtained, and grey matter volumes were estimated across 28 thalamic regions of the AAL3 template (Cat12 toolbox). An adjacency matrix for each group was calculated using Pearson correlation. Group-specific matrices were extracted and nodal measures such as centrality measures and clustering coefficient were calculated. Differences between ET groups were computed using a set of 10000 random networks.</p><p><strong>Results: </strong>Interestingly, among analyzed thalamic regions, ET-RBD patients showed increased local strength and weighted clustering coefficient in Geniculate Body and increased Betweenness centrality in Right Pulvinar Inferior Nucleus (p = 0.05 FDR-corrected). Moreover, ET-RBD patients showed an increased strength and weighted clustering coefficient in Left Lateral Geniculate Body and Right Medial Geniculate Body, compared to controls (p = 0.05 FDR-corrected).</p><p><strong>Discussion: </strong>Our study demonstrates, for the first time, that the presence of RBD in ET is associated with an altered structural connectivity in thalamic regions. Our findings support the pathophysiologic role of the thalamus in the complex circuit causing RBD, in this particular ET phenotype.</p><p><strong>Highlights: </strong>ET-RBD phenotype is associated with thalamic volume loss and altered structural connectivity, particularly in the medial and lateral geniculate and pulvinar nuclei.Our findings support the pathophysiologic role of the thalamus in the complex RBD pathophysiology in this particular ET phenotype.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"58"},"PeriodicalIF":1.9,"publicationDate":"2025-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12636279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145588931","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
Movement Disorders and Oculomotor Abnormalities in Whipple's Disease: An Updated Systematic Review. 惠普尔病的运动障碍和动眼肌异常:最新的系统综述。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2025-11-11 eCollection Date: 2025-01-01 DOI: 10.5334/tohm.1075
Errikos Maslias, Ruben Anker, Philip Euskirchen, Karin Diserens, Julien F Bally
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