Cerebellum最新文献

{"title":"Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression.","authors":"Fabiana Colucci, Sara Stefanelli, Elena Contaldi, Andrea Gozzi, Maura Pugliatti, Pietro Antenucci, Jay Guido Capone, Daniela Gragnaniello, Mariachiara Sensi","doi":"10.1007/s12311-025-01881-4","DOIUrl":"10.1007/s12311-025-01881-4","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia type 1 (SCA1) is characterised by motor and cognitive symptoms. Sex-specific differences in disease presentation and progression remain poorly understood. This study investigates the role of sex in clinical-demographic and motor/cognitive outcomes in SCA1.</p><p><strong>Methods: </strong>This single-centre, longitudinal observational cohort study was conducted at the University Hospital of Ferrara between 2021 and 2024. Consecutively, genetically confirmed SCA1 patients were evaluated at baseline and after 24±6 months. Assessments included comprehensive neuropsychological testing and auditory event-related potentials (aERPs). Motor function was evaluated using the Scale for Assessment and Rating of Ataxia (SARA).</p><p><strong>Results: </strong>Sixteen SCA1 patients (9 males, seven females) were evaluated at baseline, with 10 patients (5 males, five females) completing follow-up. Even if most cognitive functions were preserved in both sexes at baseline, males showed worse performance in emotion attribution tasks than females (42.8 ± 8.5 vs. 53.1 ± 5.7, r = 0.63). Over time, both sexes showed slightly worsening cognitive performance, although not statistically significant, with males demonstrating deficits in verbal fluency (p = 0.036) and emotion attribution (p = 0.048). In the same group, motor impairment worsened at follow-up, though not significantly. aERPs revealed no differences between sexes at follow-up.</p><p><strong>Conclusion: </strong>Sex may influence cognitive outcomes in SCA1, with male patients showing greater vulnerability to cognitive decline. aERPs did not show significant modifications. These findings highlight the importance of considering sex-specific approaches in the clinical management of SCA1 patients and the higher values of a comprehensive neuropsychological assessment compared to the neurophysiological approach with aERPs to reach these slight changes over time.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"127"},"PeriodicalIF":2.4,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12405387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Effect of Trial Numbers on Prism Adaptation: A Study of Pure Cerebellar Spinocerebellar Degeneration and Parkinson's Disease.","authors":"Kenta Taneda, Takahiro Shimizu, Naoki Tokuda, Shotaro Moriyasu, Takenobu Murakami, Hiroshi Takahashi, Yoshikazu Ugawa, Shunsuke Kobayashi, Ritsuko Hanajima","doi":"10.1007/s12311-025-01877-0","DOIUrl":"10.1007/s12311-025-01877-0","url":null,"abstract":"<p><strong>Background: </strong>Prism adaptation is used to study the cerebellar adaptive functions in neurological disorders. Previous papers reported that the number of prism exposure trials affected retention of the adaptation. However, it has not been studied how the trial number affects prism adaptation performances, especially its retention, in neurological disorders. Therefore, we aimed to investigate the relationship between exposure trial numbers and the acquisition of prism adaptation or the after-effects (AEs) (first and recovered) in patients with Parkinson's disease (PD), those with pure cerebellar-type spinocerebellar degeneration (SCD), and age-matched healthy volunteers (HVs).</p><p><strong>Methods: </strong>Participants performed a finger-reaching task while wearing 20-D wedge-prism lenses, for 50 and 200 trials. The average of the errors in the last 10 prism exposure trials was considered an adaptation acquisition parameter. We also measured the first AE at the beginning of the post-exposure period and recovered AE by blocking visual feedback during the post-exposure period.</p><p><strong>Results: </strong>In the HVs, 200 trials enlarged the recovered AE compared to 50 trials, without any effects on adaptation acquisition or the first AE. In the SCD group, 200 trials normalized the reduced adaptation and first AE of 50 trials, with similar enlargement of the recovered AE. In the PD group, neither the adaptation acquisition nor first AE was affected by the trial number, but the recovered AE was larger than that of the HVs in 50 trials. No prism adaptation parameters correlated with any clinical severity scores.</p><p><strong>Conclusions: </strong>We first showed that 200 trials compensate for reduced prism adaptation owing to cerebellar dysfunction compared to 50 trials. In PD, 50 trials induced an increase of the recovered AE, which may reflect the cerebellar circuit hyperfunction to compensate for the basal-ganglia dysfunction.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"125"},"PeriodicalIF":2.4,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cognitive Potential Characteristics and Brain Network Dynamics in Patients with Acute Cerebellar Ischemic Stroke: Insights from P300 and Moving Dipoles.","authors":"Xiaodong Yuan, Qirong Ling, Na Yang, Changming Wang, Ya Ou, Jing Xue, Zipan Shan, Pingshu Zhang","doi":"10.1007/s12311-025-01872-5","DOIUrl":"10.1007/s12311-025-01872-5","url":null,"abstract":"","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"121"},"PeriodicalIF":2.4,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144561870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differential Effects of Cerebellar tDCS on Sequential Mentalizing.","authors":"Beatriz Catoira, Marco Manzo, Joy de Gabriac, Jens Allaert, Raquel Guiomar, Stefanie De Smet, Natacha Deroost, Marie-Anne Vanderhasselt, Frank Van Overwalle, Chris Baeken","doi":"10.1007/s12311-025-01876-1","DOIUrl":"10.1007/s12311-025-01876-1","url":null,"abstract":"","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"123"},"PeriodicalIF":2.4,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12227511/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144561872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebellar Brain Inhibition and Its Association with Motor Inhibition and Reaction Time In Younger and Older Adults.","authors":"Shanti Van Malderen, Melina Hehl, Marten Nuyts, Stefanie Verstraelen, Stephan P Swinnen, Koen Cuypers","doi":"10.1007/s12311-025-01871-6","DOIUrl":"10.1007/s12311-025-01871-6","url":null,"abstract":"<p><p>Motor performance declines with age, particularly affecting reaction time and proactive response inhibition. While cortical influences on age-related motor decline are well-documented, the cerebellum's role remains unclear. Cerebellar Brain Inhibition (CBI), which can be measured through dual-site transcranial magnetic stimulation (TMS), may provide insights into age-related changes in motor control. We aimed to (1) compare resting-state CBI between young and older adults, (2) investigate the relationship between CBI and upper limb motor performance, and (3) examine whether this relationship differs between age groups. Using dual-site TMS, resting-state CBI was assessed in young and older adults. Motor performance was evaluated using a task battery measuring simple and choice reaction times, and response inhibition. As expected, older adults exhibited significantly longer reaction times and reduced reactive inhibition with lower accuracy compared to younger adults. No significant differences in resting CBI were observed between age groups, and no association was found between CBI and motor performance outcomes. Despite clear age-related differences in motor performance, resting CBI revealed no difference between age groups and showed no association with motor control measures. These findings suggest that the effect of aging on dual-site TMS-derived cerebellar inhibition at rest and its association with motor performance might be limited. However, age-related cerebellar effects on motor control might manifest during task execution rather than at rest, highlighting the potential importance of investigating CBI modulation during motor performance in the context of aging.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"124"},"PeriodicalIF":2.4,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144561869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detailed Mapping of the Cerebellar Dentate Nucleus Using Ultra-High Field (7T) Susceptibility-Weighted Imaging.","authors":"Laura C Rice, Micah R Plotkin, Dylan Parodi, Beatrice Ojuri, Maansi Barnwal, James J Pekar, Catherine J Stoodley, Xu Li, Deana Crocetti, Stewart H Mostofsky","doi":"10.1007/s12311-025-01870-7","DOIUrl":"10.1007/s12311-025-01870-7","url":null,"abstract":"<p><p>The current study presents a novel method for imaging the cerebellar dentate nucleus, combining ultra-high field (7T) and quantitative susceptibility mapping (QSM) to enhance tissue boundary identification and segmentation. After assessing segmentation reliability, we assessed validity by evaluating volume and resting state functional connectivity (FC) of the dorsal vs. ventral dentate subregions. Neurotypical adults (n = 30, 15 females) completed 7T susceptibility-weighted imaging (SWI) and resting state fMRI. QSM maps were used to segment the dentate (whole, dorsal, ventral subregions). Reliability of the segmentation protocol was established across three raters (inter-rater) and one rater who performed the segmentations twice (intra-rater) using the Dice coefficient (d). Dorsal and ventral dentate volumes were calculated, and whole-brain seed-to-voxel FC patterns were assessed from the whole dentate, dorsal, and ventral subregions. Group-level contrasts for each subregion and between subregions were thresholded at voxel-level p <.005, with a cluster-level FDR-correction of p <.05. Segmentation reliability was high (inter-rater d = 0.89, intra-rater d = 0.93), and the dorsal subregion was significantly smaller than the ventral (p <.001). The dorsal dentate showed greater FC with regions involved in sensorimotor processing (cerebellar vermis I-V, IX-X, lobules VIII-IX, fusiform, cuneus), and the ventral dentate showed greater FC with regions involved in cognitive processing (cerebellar lobule VII, angular gyrus, middle and superior frontal gyri, middle and superior temporal gyri, temporal pole). We present an innovative, reliable, and valid method for imaging the dentate. Dentate volumes and FC were consistent with anatomical mapping from animal and human studies. Future directions include application to clinical populations with anomalous cerebellar development and injury.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"122"},"PeriodicalIF":2.4,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144561871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.","authors":"Sergio Roberto Pereira da Silva, Renata Montes Garcia Barbosa, Patricia Pontes Cruz, Lunielle da Cruz Caldeira, Daniel de Queiroz Omote, João Cláudio da Costa Urbano, Matheus Augusto Araújo Castro, Jacy Bezerra Parmera, Fernando Magri, Fernando Kok, Fernando Freua","doi":"10.1007/s12311-025-01860-9","DOIUrl":"10.1007/s12311-025-01860-9","url":null,"abstract":"<p><p>Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a rare condition caused by mutations in ABHD12. We present the first documented case of PHARC in a Brazilian patient. Describe the clinical and genetic aspects of patients diagnosed with PHARC through a literature review. A literature review was conducted in February 2024 using Pubmed/Medline database. We also report a 37-year-old Brazilian woman diagnosed with PHARC. Between 38 patients diagnosed with this condition, the majority were male (74.35%) and the median age was 35.7 years. The most common symptom reported was ataxia (79.4%). The main finding of Brain MRI was cerebellar atrophy, and demyelinating polyneuropathy was the commonest finding in electroneuromyography, both were found in 28.2% of patients. PHARC syndrome is a rare autosomal recessive condition that is increasingly reported in the literature. Refsum disease and Usher syndrome are the main differential diagnosis. A multidisciplinary approach and follow-up are crucial for accurate diagnosis and treatment.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"120"},"PeriodicalIF":2.7,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristics of Adverse Events and Clinical Risks of Omaveloxolone Based on FAERS Data.","authors":"Hua Liu, Dandan Fan, Hong Tao, Zhu Shen, Kun Yao","doi":"10.1007/s12311-025-01873-4","DOIUrl":"10.1007/s12311-025-01873-4","url":null,"abstract":"<p><p>Omaveloxolone, the first approved therapeutic agent for Friedreich ataxia (FRDA), currently has limited real-world safety data available. This study aims to evaluate post-marketing adverse events (AEs) associated with its clinical use by analyzing data from the FDA Adverse Event Reporting System (FAERS). We collected all adverse reaction reports associated with omaveloxolone from the first quarter of 2023 (Q1 2023) to the fourth quarter of 2024 (Q4 2024) in the FAERS database and performed signal detection using four distinct pharmacovigilance methods: the Reporting Odds Ratio (ROR), Proportional Reporting Ratio (PRR), Bayesian Confidence Propagation Neural Network (BCPNN), and Empirical Bayesian Geometric Mean (EBGM). A total of 9,326,057 AE reports were collected, among which 820 reports were associated with omaveloxolone. All AEs were categorized into 25 System Organ Classes (SOCs) and 67 positive Preferred Terms (PTs). Investigations represented the most frequently reported SOC, followed by gastrointestinal disorders and general disorders and administration site conditions. Hepatic enzyme increased emerged as the most prominent adverse event, demonstrating both high reporting frequency and strong signal intensity, primarily manifesting as elevated ALT and AST levels. Other commonly reported AEs included fatigue, nausea, headache, and blood cholesterol increased. The study also identified several novel potential AEs, such as urinary tract infection, diabetes mellitus, urine odour abnormal, atrial flutter, and urosepsis. Although some of these AEs were reported in relatively low frequencies, their clinical severity and elevated signal strengths suggest that omaveloxolone may potentially affect patients' urinary and endocrine systems, warranting particular attention during clinical administration. In conclusion, while omaveloxolone demonstrates multifaceted benefits in improving neurological function in patients with FRDA, its clinical application necessitates comprehensive evaluation of potential risks, and the development of safe and rational therapeutic strategies is crucial for optimizing treatment outcomes.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"119"},"PeriodicalIF":2.7,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tremor and Ataxia in Paraneoplastic Anti-Diacylglycerol Lipase Alpha (DAGLA) Cerebellitis.","authors":"José Fidel Baizabal-Carvallo, Raquel Ruiz-García, Laura Naranjo, Francesc Graus","doi":"10.1007/s12311-025-01875-2","DOIUrl":"10.1007/s12311-025-01875-2","url":null,"abstract":"<p><p>Antibodies directed against the enzyme diacylglycerol lipase alpha (DAGLA) have been recently discovered to cause a severe autoimmune cerebellar syndrome. We report a patient with DAGLA antibodies with prominent tremor and ataxia occurring in the context of a malignant melanoma, indicating that these antibodies may also occur in paraneoplastic cerebellar degeneration.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"118"},"PeriodicalIF":2.7,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolated Bilateral Cerebellar Dysfunction as the Initial Manifestation of HIV Infection: A Diagnostic Challenge, Case Report, and Literature Review.","authors":"Ritwick Mondal, Shramana Deb, Ananya Sengupta, Subhadeep Banerjee, Nirmalya Ray, Mona Tiwari, Jayanta Roy, Julián Benito-León","doi":"10.1007/s12311-025-01861-8","DOIUrl":"10.1007/s12311-025-01861-8","url":null,"abstract":"","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"117"},"PeriodicalIF":2.7,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12177021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}