Cerebellum最新文献

{"title":"Isolated Generalized Chorea in a Patient with Small-Expanded Allele Spinocerebellar Ataxia 17.","authors":"Giulia Paparella, Martina De Riggi, Simone Aloisio, Adriana Martini, Luca Angelini, Daniele Birreci, Davide Costa, Antonio Cannavacciuolo, Anna Maria Griguoli, Stefano Gambardella, Matteo Bologna","doi":"10.1007/s12311-025-01868-1","DOIUrl":"10.1007/s12311-025-01868-1","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia type 17 (SCA17) is an autosomal dominant disease caused by a polyglutamine-encoding CAG/CAA repeat expansion within the TATA box-binding protein (TBP) gene. It is characterized by a markedly heterogeneous phenomenology and complex genotype-phenotype relationships.</p><p><strong>Case description: </strong>We describe the clinical, neuropsychological, and neuroimaging findings of a 73-year-old patient who presented a 10-year history of generalized hyperkinetic movements and depressive symptoms. The patient's family history was unremarkable. Neurological examination revealed choreic movements affecting the upper and lower limbs, the face and the trunk with no additional neurological signs. Blood sample analysis, brain imaging, and neuropsychological evaluation revealed normal results. Genetic analysis identified, in the TBP gene, the 41-CAG pathological allele with reduced penetrance.</p><p><strong>Conclusion: </strong>The present case report provides further insight into the small-expanded allele SCA17-associated phenotype, supporting the recently updated genotype-phenotype assessment for SCA17.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"110"},"PeriodicalIF":2.7,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235841","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":"Conference Report: Cerebellar Development and Disease at Single-Cell Resolution.","authors":"Lena M Kutscher, Davide Aprile, N Sumru Bayin, Esther B E Becker, Valentina Cerrato, Giacomo Turrini, Marion Coolen, Vincent Cantagrel, Béatrice C Durand, Myron K Evans Ii, Parthiv Haldipur, Kathleen J Millen, Joanna Yeung, Daniel Goldowitz, Mary E Hatten, Alexandra L Joyner, Justus M Kebschull, James Y H Li, Giorgia Quadrato, Christin Schmidt, Mari Sepp, Teresa P Silva, Giuseppe Testa, Luca Tiberi, Simone Mayer","doi":"10.1007/s12311-025-01864-5","DOIUrl":"10.1007/s12311-025-01864-5","url":null,"abstract":"","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"109"},"PeriodicalIF":2.7,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141159/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144227481","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":"Machado-Joseph disease in Brazil and other South American countries: A systematic Review and Meta-analysis of Prevalence, CAG Repeat Lengths, Age At Onset, and Ancestry.","authors":"Lucas Schenatto Sena, Leonardo Simão Medeiros, Laura Bannach Jardim","doi":"10.1007/s12311-025-01854-7","DOIUrl":"https://doi.org/10.1007/s12311-025-01854-7","url":null,"abstract":"<p><p>Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a CAG expansion (CAGexp) disease whose genetic characteristics in South America (SA) are not well known. Our aim was to perform a systematic review and meta-analysis on the subject. Number of SA cases, ages at onset (AO), normal CAG repeats (CAGnormal) and CAGexp, and haplotypes, were searched in Pubmed, Embase, Lilacs, SciELO, ProQuest™ Dissertations & Theses Citation Index, BDTD and La Referencia by a PROSPERO registered protocol. Quantitative data were meta analysed. 26 non-replicated papers and dissertations out of 713 publications were included. 2,111 SCA3/MJD patients were reported, 16 living in Argentina, 10 in Chile, 41 in Venezuela, 18 in Peru, and 2,026 in Brazil between 2011 and 2024. Four individual-participant data (IPD) were obtained. The mean (95% CI; sample size) of CAGnormal, CAGexp and AO were 21.90 (21.53-22.27; 802) and 74.65 (74.43-74.87; 1,100) repeats, and 34.90 (34.25-35.31; 1,102) years. CAGexp explained 62% of the AO variability in IPD (789). The CAGexp effects over AO varied according to geographical origin, impacting in the models to predict AO. It was similar in three Brazilian cohorts, while among Peruvians the AO seemed to be earlier than expected by their CAGexp legths. Three studies found the rs1048755-rs12895357-rs7158733 haplotypes ACA, CCG and AGA in Brazilian patients. In conclusion, current evidence supports the relationship between SCA3/MJD and Portuguese-Azoreans, while the different CAGexp effects on AO across SA populations need to be studied to determine the underlying modifying factors.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"108"},"PeriodicalIF":2.7,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144217459","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":"A Novel Metric for Assessing Long-Term Outcomes in Adults with Chiari Malformation Type I: Occipitocervical Dura Angulation (ODA)-Applications and Value.","authors":"Bo Wang, Shi-Chao Chen, Yao-Wu Zhang, Wei-Hao Liu, Chong Wang, Yi-Xiang Liu, Guang-Hao Zheng, Jia-Lin Li, Kai Ji, Jun Yang, Yong-Zhi Wang, Wen-Qing Jia","doi":"10.1007/s12311-025-01865-4","DOIUrl":"10.1007/s12311-025-01865-4","url":null,"abstract":"<p><p>Foramen magnum decompression with duraplasty (FMDD), a common surgery for adult Chiari malformation type I(CM-I) with a 60-70% improvement rate, lacks assessment metrics. This study applied the concept of occipitocervical dura angulation (ODA) and aimed to investigate ODA's role in evaluating long-term FMDD outcomes. The ODA normal range was measured in 230 healthy individuals. We included 160 CM-I adults who underwent FMDD over 10 years. Long-term outcomes (> 1 year) were evaluated using the Chicago Chiari Outcome Scale(CCOS). The cohort was grouped to analyze ODA's role in assessing and predicting FMDD outcomes. The normal range of ODA was 104°-145°, with an average value of 124.2 ± 10.4°. The median patient age was 46 years (range: 18-64 years). The median follow-up period was 64.5 months (range: 18-123 months). The cohort was divided into two groups based on preoperative ODA: group A (n = 90) with ODA < 125° and group B (n = 70) with ODA ≥ 125°. Group B had a significantly better prognosis than that of group A (P = 0.012). Logistic regression analysis revealed that an increase in ODA was associated with clinical outcomes in both groups. The receiver operating characteristic curve showed that ODA increases of > 10° and > 3° could be considered as credible threshold values for groups A and B, respectively. ODA is a reliable predictor of prognosis. FMDD should result in an increased ODA, which is one of the criteria for surgical validity, especially for those with a preoperative ODA of < 125°.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"107"},"PeriodicalIF":2.7,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200677","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":"Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 1: Disease Severity, Swallowing, Upper Limb Function, and Participation.","authors":"Isabelle Lessard, Luc J Hébert, Bernard Brais, Elise Duchesne, Xavier Rodrigue, Jean-Denis Brisson, François Routhier, Krista Best, Isabelle Côté, Cynthia Gagnon","doi":"10.1007/s12311-025-01858-3","DOIUrl":"10.1007/s12311-025-01858-3","url":null,"abstract":"<p><p>Progress has been made in developing new therapies for certain ataxias. To ensure clinical trial readiness and support the development of robust trial design, it is essential to know the disease progression rate and metrological properties of clinical outcome assessments (COAs), including their responsiveness to change. The objectives of this study were 1) to document over a trial-relevant time frame of two years the progression of disease severity, swallowing, upper limb function, and participation, and 2) to assess the responsiveness to change of related COAs in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one of the most frequent recessive ataxias worldwide. Sixty participants from two neuromuscular clinics (Saguenay and Québec City, Canada) were included. The COAs were the Disease Severity Index for ARSACS (DSI-ARSACS), Scale for the Assessment and Rating of Ataxia (SARA), Swallowing Disturbance Questionnaire, grip and pinch strength, Standardized Finger-to-Nose test, TEMPA, Barthel Index, and Assessment of Life Habits questionnaire. Self-perception of previous-year progression of specific impairments was also documented using a global rating of change scale (GRS). A significant progression in the DSI-ARSACS (-1.5 points), SARA (+ 1.6 points), Barthel Index (-7.4 points), and grip (-2.3 kg) and pinch (-0.25 kg) strength was observed. Only a few COAs were able to specifically detect a difference in participants who reported worsening, with grip strength being the most sensitive COA to assess upper limb function. Since a high proportion of participants reported not having any impairments, the statistical power was limited for responsiveness analyses and further study would be needed.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"106"},"PeriodicalIF":2.7,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192462","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":"Cross-Cultural Adaptation of the Patient-Reported Outcome Measure of Ataxia: the Brazilian Version of PROM-Ataxia.","authors":"Stephanie Suzanne de Oliveira Scott, Ana Carolina Martins, Gabriel Vasata Furtado, Karina Carvalho Donis, Helena Ashton Prolla, Laura Prolla Lacroix, Ana Laura Brandi, Karine Caregnato Santana, Paulo Ribeiro Nóbrega, Pedro Braga-Neto, Laura Bannach Jardim","doi":"10.1007/s12311-025-01857-4","DOIUrl":"https://doi.org/10.1007/s12311-025-01857-4","url":null,"abstract":"<p><strong>Background: </strong>Patient-Reported Outcome Measure (PROMs) are essential instruments for assessing outcomes in clinical trials, as they represent, in a standardized way, the direct report of patients about their own experiences with the disease. To better understand the health and well-being of the population with ataxia, the Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia) was developed in English.</p><p><strong>Aim: </strong>to translate the PROM-Ataxia to Portuguese and culturally adapt it for use in Brazil.</p><p><strong>Methods: </strong>We followed the ISPOR TCA Task Force guidelines. Researchers from two geographically and culturally distant ataxia care centers, located 4,200 km apart, produced two initial versions in Portuguese. The reconciled version was back translated, improved by the opinion of other specialists in ataxia in the country, and sent to the original author, who approved the preliminary Brazilian version. This version was then taken to cognitive debriefing with ataxic patients followed at one of the two participant sites - Porto Alegre and Fortaleza.</p><p><strong>Results: </strong>Fourteen Brazilian patients participated in the debriefing. They found PROM-ataxia to be adequate and to cover all the significant impacts of ataxia on their lives. Some items were considered ambiguous. Semantic and conceptual issues were identified and resolved with minor translation changes that improved the cross-cultural adaptation of the questionnaire.</p><p><strong>Conclusion: </strong>The Brazilian version of PROM-ataxia is now complete. Further psychometric studies are needed to validate its efficacy as an outcome measure, particularly in clinical trials.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"105"},"PeriodicalIF":2.7,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136257","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":"Biomarkers in Spinocerebellar Ataxias.","authors":"Thomas Klockgether, Marcus Grobe-Einsler, Jennifer Faber","doi":"10.1007/s12311-025-01856-5","DOIUrl":"10.1007/s12311-025-01856-5","url":null,"abstract":"<p><p>Biomarkers are defined as measures that indicate biological processes and responses to interventions. Spinocerebellar ataxias (SCAs) are autosomal dominantly inherited, progressive diseases. As targeted therapies for SCAs are being developed, there is a great need for biomarkers for use in clinical trials. Molecular genetic tests are firmly established as diagnostic biomarkers for SCAs. Biomarkers that monitor disease progression are needed in clinical trials that aim at slowing disease progression. Magnetic resonance imaging (MRI) volume measures and- in SCA2 - saccadic velocity are promising candidates, as they have been shown to decrease over time with larger sensitivity than clinical scales. Prognostic biomarkers indicate the likelihood of progression or a future clinical event. Potential candidates are CAG repeat length, blood neurofilament light chain (NfL) concentrations, MRI volume measures, magnetic resonance spectroscopic (MRS) metabolites, digital measures of gait variability and- in SCA2- sensory nerve amplitudes. Response biomarkers, which are capable of detecting a response to an intervention, are essential for interventional trials. In gene silencing trials, the concentrations of the proteins encoded by the targeted genes serve as response biomarkers. To date, assays for expanded ATXN3 are available. NfL has the potential to serve as a response marker across all SCA subtypes, as it is assumed to indicate ongoing neurodegeneration, but available data are yet insufficient. Although development and validation of biomarkers for SCAs are rapidly evolving, there is an urgent need for further, longitudinal, multimodal studies.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"104"},"PeriodicalIF":2.7,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12103481/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136254","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":"Correction: The Neuroimmune System and the Cerebellum.","authors":"Donna L Gruol","doi":"10.1007/s12311-025-01859-2","DOIUrl":"10.1007/s12311-025-01859-2","url":null,"abstract":"","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"102"},"PeriodicalIF":2.7,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12102093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144128992","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":"Exploring Neurobiological Effects of Intermittent Theta-Burst Stimulation on the Left Cerebellum for Post-stroke Unilateral Neglect: A Preliminary Transcranial Magnetic Stimulation-Electroencephalography Investigation.","authors":"Linlin Ye, Wanying Zhao, Yichen Zhang, Weiqun Song, Huanxin Xie, Lei Cao","doi":"10.1007/s12311-025-01853-8","DOIUrl":"10.1007/s12311-025-01853-8","url":null,"abstract":"<p><p>Unilateral neglect (UN) is a frequent consequence of stroke, for which effective therapeutic interventions are yet to be definitively established. This study aims to assess the therapeutic potential of intermittent theta-burst stimulation (iTBS) applied to the contralesional cerebellum in reducing UN symptoms. Additionally, it seeks to clarify the neurophysiological mechanisms involved, thereby supporting the development of future personalized treatment strategies for the UN. Twenty patients diagnosed with UN were recruited and randomly allocated to either an iTBS treatment group or a sham stimulation group. Both groups received their respective interventions over ten consecutive days. Clinical behavioural assessments were performed pre- and post-treatment. Concurrently, transcranial magnetic stimulation combined with electroencephalography (TMS-EEG) data were collected to assess alterations in cortical excitability and brain network connectivity. Patients receiving iTBS exhibited statistically significant improvements in both the line cancellation (p = 0.002) and star cancellation tasks (p = 0.003). Moreover, iTBS was associated with increased cortical excitability and enhanced signal propagation within the lesioned parietal cortex. Specifically, significant increases in the P60 and N100 components were observed in the iTBS group (P60, p < 0.001; N100, p = 0.002). Cumulative excitability metrics revealed significant improvements within the iTBS group over time intervals of 25-80 ms (p = 0.007) and 25-275 ms (p = 0.025). At the network level, the iTBS group showed early-stage increases in ipsilesional frontoparietal connectivity, followed by later stage enhancements between the contralesional occipital and ipsilesional frontal regions, as well as between the ipsilesional frontal and central parietal regions. These results suggest a pivotal role of cerebellar iTBS in modulating brain network connectivity. The findings of this study suggest that iTBS can mitigate symptoms of UN and, as demonstrated through TMS-EEG analyses, significantly influence cortical excitability and functional brain network connectivity in patients with UN. Stimulation of the contralesional cerebellum not only enhanced excitability in the ipsilesional parietal cortex but also facilitated neural network reorganisation by augmenting frontoparietal connectivity. These outcomes underscore the potential of iTBS as a therapeutic intervention for the UN. Future research should focus on validating the long-term efficacy of iTBS and exploring its broader applicability across varied patient populations. Clinical trial number: ChiCTR2400080086, Xuanwu Hospital, Capital Medical University.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"103"},"PeriodicalIF":2.7,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129090","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":"Generalized Cerebellar Ataxia of Acute Onset: Case Report.","authors":"Arthur Antônio Freire Alves, Arthur Felipe Barbosa Vasconcelos, Francisco Anderson de Sá Carvalho, Gilmar Leite Pessoa Filho, Ana Luísa Castelo Branco Gomes, Adriana M T Nepomuceno, Juliana Magalhães Leite, Rafael de Souza Andrade, João Alfredo M M Barros, Alex Tiburtino Meira","doi":"10.1007/s12311-025-01855-6","DOIUrl":"https://doi.org/10.1007/s12311-025-01855-6","url":null,"abstract":"<p><p>In this case report, we describe a male patient, aged 65 years, with previous arterial hypertension and atrial fibrillation, with irregular use of losartan, presenting with sudden onset of dizziness, dysarthria, and bilateral ataxia, 5.5 h before the admission to the neurological emergency department. The cranial magnetic resonance imaging revealed hyperintensities on T2/FLAIR sequences, and diffusion restriction in the territory irrigated by both superior cerebellar arteries, alongside with left pontine, compatible with infarct. The CT angiography of the cervical and cerebral arteries revealed a thromboembolic occlusion of the top of the basilar artery. Furthermore, atrial fibrillation was confirmed based on the results of the electrocardiogram. During hospitalization, the patient was treated with metoprolol and dabigatran. Upon discharge, the patient demonstrated a partial improvement in symptoms under medication and was scheduled to return to the outpatient clinic after 30 days. Our case highlights the importance of considering ischemic stroke in the territory of the cerebellar superior artery bilaterally, due to a top of basilar thrombus, in patients presenting with global cerebellar ataxia, with no consciousness or visual alteration. Clinical Trial Number Not applicable.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"101"},"PeriodicalIF":2.7,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095599","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}