Cerebellum最新文献

{"title":"Motor-Cognitive Dual-Task Cost and Associated Micro Lesions of Cerebellum and Brainstem in Multiple System Atrophy (Parkinsonian Type).","authors":"Yi Xiao, Shichan Wang, Yanbing Hou, Junyu Lin, Tianmi Yang, Qirui Jiang, Jiyong Liu, Ruwei Ou, Chunyu Li, Huifang Shang","doi":"10.1007/s12311-025-01821-2","DOIUrl":"https://doi.org/10.1007/s12311-025-01821-2","url":null,"abstract":"<p><p>In multiple system atrophy with parkinsonian type (MSA-P), the dual-task cost and the underlying neurological mechanisms remain under-researched. We included 20 early-stage MSA-P patients and 10 matched healthy controls (HC). Using a video-based gait analysis machine, we explored gait characteristics under three conditions: single-task gait (STG), dual-task gait with backward counting (DTG-BC), and dual-task gait with spontaneous animal naming (DTG-SAN). Neuroimaging scans were collected to analyze the gray matter and white matter structures related to the dual-task cost in MSA-P. Our neuroimaging analysis focused on the infratentorial structures, as previous studies have indicated that these regions are closely related to dual-task cost. There were no differences in gait metrics between MSA-P and HC in STG. In the DTG-BC, patients with MSA-P exhibited a higher dual-task cost burden, as indicated by longer turning durations and shorter swing cycles compared to HC. MSA-P patients had decreased gray matter volume in the right culmen and increased radial diffusivity in the left declive compared to HC. Diffusion tensor imaging analysis showed that the higher dual-task cost of the right swing cycle in DTG-BC was related to the higher mean diffusivity of the left mesencephalic locomotor region (MLR). Additionally, a higher dual-task cost of turning duration in DTG-BC was related to increased axial diffusivity and radial diffusivity in the white matter of the bilateral culmen. Patients with MSA-P exhibited a higher dual-task burden compared to HC, and WM deficit in MLR and culmen were related to the disease's specific dual-task cost in MSA-P.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"77"},"PeriodicalIF":2.7,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735687","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":"Anti-RGS8 Paraneoplastic Neurologic Syndrome Presenting with Skew Deviation and Mild Cerebellar Dysfunction.","authors":"Ruben Jauregui, Andrew M Evens, Anastasia Zekeridou, Claude Steriade, Todd Hudson, Gerald T Voelbel, Steven L Galetta, Janet C Rucker","doi":"10.1007/s12311-025-01827-w","DOIUrl":"10.1007/s12311-025-01827-w","url":null,"abstract":"<p><p>RGS8-associated paraneoplastic neurologic syndrome (PNS) is a recently-described disorder associated with lymphomas and typically presenting with severe, rapidly-progressing cerebellar dysfunction. We describe a patient who presented with mild signs of cerebellar dysfunction, including ocular motor abnormalities and impaired tandem gait. CSF showed elevated protein and a neural-restricted antibody pattern. Mesenteric lymphadenopathy on abdominal CT was biopsied and diagnosed as follicular B-cell lymphoma. After four years, the previously-detected antibody pattern was identified as RGS8 antibodies. This case describes the first RGS8-PNS patient presenting with a subtle and ocular motor predominant cerebellar syndrome with low-grade lymphoma.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"76"},"PeriodicalIF":2.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143722573","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":"Feasibility of Cerebellar Stimulation for the Treatment of Post-Stroke Dysphagia.","authors":"Gwenllian Wilkinson, Ayodele Sasegbon, Craig J Smith, Philip M Bath, Shaheen Hamdy","doi":"10.1007/s12311-025-01823-0","DOIUrl":"10.1007/s12311-025-01823-0","url":null,"abstract":"<p><p>Post-stroke dysphagia (PSD) is common and associated with poor outcomes. We aimed to explore the feasibility, safety, and proof of concept of cerebellar rTMS in patients with sub-acute PSD. We intended to recruit 48 participants with PSD. Randomised to: (i) sham treatment twice-daily for five days, (ii) cerebellar rTMS daily for three days, and (iii) cerebellar rTMS twice-daily for five days (1:1:1). Participants were blinded to treatment group. Primary outcomes were feasibility, safety, and functional outcome intake scale (FOIS), dysphagia severity rating scale (DSRS), and feeding status scale (FSS) at two weeks. However, due to lower-than-expected enrolment, the active rTMS groups were combined. We recruited 14 participants in total, (mean 68 years, 57% female). Due to the time-limited funding period, recruitment was adversely affected by the COVID-19 pandemic. DSRS and FSS trended lower in the combined active rTMS groups at two weeks, i.e. less swallowing impairment. However, at death/discharge FOIS was higher/better (mean, (standard deviation)), 4.0 (2.1) vs. 1.8 (1.0) (p = 0.032) with active TMS, with trends to lower/better DSRS and FSS. There was no difference in the acceptability of treatment between groups. High-intensity (n = 5) vs. low-intensity (n = 5) cerebellar rTMS was associated with lower DSRS 3.0 (1.4) vs. 9.4 (2.7) and FSS 0.6 (0.5) vs. 1.6 (0.5) at 2 weeks, and DSRS 3.0 (1.4) vs. 9.0 (3.7) at hospital discharge or death. Cerebellar rTMS is a feasible ward-based treatment for reducing swallowing impairment. Although enrolment was lower than desired, there was evidence for proof of concept, particularly for high-intensity cerebellar rTMS. Larger studies are warranted.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"74"},"PeriodicalIF":2.7,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11946963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732851","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":"Epidemiology of Autosomal Dominant Spinocerebellar Ataxias in Latin America: A Systematic Review and Meta-Analysis.","authors":"Milagros Galecio-Castillo, Jesus Gutierrez-Arratia, Alonso Abad-Murillo, Elison Sarapura-Castro, Ismael Araujo-Aliaga, Ana Saldarriaga-Mayo, Maryenela Illanes-Manrique, Mario Cornejo-Olivas","doi":"10.1007/s12311-025-01826-x","DOIUrl":"https://doi.org/10.1007/s12311-025-01826-x","url":null,"abstract":"<p><p>The Spinocerebellar Ataxias (SCAs) are a group of autosomal dominant neurodegenerative disorders characterized by progressive cerebellar ataxia, affecting motor coordination. SCAs are reported globally with large geographical and ethnic differences. This systematic review and meta-analysis aimed to update the frequency, and geographic distribution of SCAs in Latin America, including recently identified SCAs like SCA27B. We conducted a systematic search in PubMed, Scopus, LILACS, SciELO, and Web of Science databases, including studies published from inception to January 2025. We included 27 studies for the systematic review and 18 studies for the meta-analysis that met the inclusion criteria, representing a total of 5859 participants across eleven countries. Our meta-analysis revealed that about 50% (95% CI 26-74%) of hereditary ataxias in Latin America were confirmed to have a genetic diagnosis of SCA. The included participants with a known SCA have the following proportions: MJD/SCA3 (15%), SCA2 (11%), SCA7 (4%), SCA10 (3%), and SCA1 (3%). Geographic distributions were notable, MJD/SCA3 in Brazil, SCA2 in Cuba, Argentina and Mexico, SCA10 predominating in Peru, and SCA7 in Venezuela. Recently identified SCA types, like SCA27B and one case of SCA4, were identified in Brazil. In 22 countries there are no published studies on the epidemiology of SCAs. The distribution of SCAs in Latin America reflects the influence of historical migrations, founder effects, and ancestries, emphasizing regional heterogeneity. Our findings underscore the critical need for further epidemiological studies, particularly in understudied countries in the region.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"75"},"PeriodicalIF":2.7,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732850","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":"Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders.","authors":"Thiago Yoshinaga Tonholo Silva, Vinícius Lopes Braga, Victor Rebelo Procaci, Luane Abdalla Gouvêa, Leonardo Furtado Freitas, Darine Christina Maia Villela, Michele Patricia Migliavacca, José Ricardo Magliocco Ceroni, André Macedo Serafim Silva, João Bosco Oliveira, Cláudia Ferreira da Rosa Sobreira, Orlando Graziani Povoas Barsottini, José Luiz Pedroso","doi":"10.1007/s12311-025-01828-9","DOIUrl":"https://doi.org/10.1007/s12311-025-01828-9","url":null,"abstract":"<p><p>ANO10-related ataxia is characterized by cerebellar and pyramidal signs, with prominent oculomotor abnormalities, including saccadic abnormalities, strabismus, and ptosis. While nystagmus is frequently observed, the specific subtype of horizontal pendular nystagmus has not been emphasized. This report describes two siblings with early-onset spastic-ataxia with horizontal pendular nystagmus, ultimately diagnosed with SCAR10. This report details the ocular abnormalities spectrum of ANO10-related ataxia by highlighting horizontal pendular nystagmus as a significant clinical feature in early-onset presentations. We also restate the importance of neurological examination, including detailed assessment of ocular movements, for accurate diagnosis and management of hereditary ataxias.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"73"},"PeriodicalIF":2.7,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702115","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":"miR-512-3p as a Potential Biomarker of Poor Outcome in Pediatric Medulloblastoma.","authors":"Carolina Alves Pereira Corrêa, Pablo Shimaoka Chagas, Mirella Baroni, Augusto Faria Andrade, Rosane Gomes de Paula Queiroz, Veridiana Kiill Suazo, Gustavo Alencastro Veiga Cruzeiro, Paola Fernanda Fedatto, David Santos Marco Antonio, Silvia Regina Brandalise, José Andres Yunes, Rodrigo Alexandre Panepucci, Carlos Gilberto Carlotti Junior, Ricardo Santos de Oliveira, Luciano Neder, Luiz Gonzaga Tone, Elvis Terci Valera, Carlos Alberto Scrideli","doi":"10.1007/s12311-025-01812-3","DOIUrl":"https://doi.org/10.1007/s12311-025-01812-3","url":null,"abstract":"<p><p>The tumorigenesis of medulloblastoma (MB), the most frequent malignant brain tumor in children, is not completely known. MicroRNA (miRNA) expression profiles have been associated with human cancers; however, the role played by miRNAs in pediatric MB has been poorly explored. Global miRNA expression in MB and non-neoplastic cerebellum samples was evaluated by microarray assay. Nine miRNAs (miR-31-5p, -329, -383, -433, -485-3p, -485-5p, -491, -512-3p, and 539-5p) in 51 pediatric MB and 7 pediatric non-neoplastic cerebellum samples were chosen for validation by qRT-PCR. The validated miRNAs were less expressed in the MB samples than in the non-neoplastic controls. In our cohort of patients, higher miR-512-3p expression was associated with incomplete degree of resection, classification as high risk, classification as group 4, and poor overall survival. In silico analysis in an independent cohort of MB patients identified that some of the miR-512-3p target genes were also correlated with prognostic features. Our results have shown that miR-512-3p could be associated with poor clinical outcomes in pediatric MB, suggesting that miR-512-3p is a potential biomarker of prognosis.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"72"},"PeriodicalIF":2.7,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702114","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":"Smartphone Application for Spastic Ataxias Cross-Sectional Validation of a Newly Developed Smartphone App for Remote Monitoring in Spastic Ataxias.","authors":"Ilse H J Willemse, Sabato Mellone, Carlo Tacconi, Winfried Ilg, Rebecca Schüle, Matthis Synofzik, Jorik H Nonnekes, Bart P C van de Warrenburg","doi":"10.1007/s12311-025-01820-3","DOIUrl":"10.1007/s12311-025-01820-3","url":null,"abstract":"<p><p>Effective trial-planning in Spastic ataxias (SPAX) is impeded by the absence of validated outcome measures for detecting longitudinal changes. Digital outcome measures show promise, demonstrating sensitivity to disease severity changes in ataxia and strong correlations with clinical scales. The objective of this study was to develop a smartphone application for SPAX (SPAX-app) to obtain valid digital outcome measures for use in clinical trials. The app contains four tasks assessing gait, standing balance (stance), and finger and hand movements. We carried out a validation study in 22 SPAX patients and 10 controls. Subjects performed the tasks three times during one visit. In parallel, we performed Ambulatory Parkinson's Disease Monitoring (APDM) sensor recordings, Q-motor upper limb assessment, and the Scale for the Assessment and Rating of Ataxia (SARA). Significant correlations were found between the SPAX-app and APDM or Q-motor for step time (r = 0.91), all measures of stance (r = 0.51-0.87) and duration of hand alternation (r = 0.64). No significant correlations were found for variability measures (e.g. standard deviation of step time). All tasks of the SPAX-app, except for stance, can discriminate SPAX from controls and show moderate to high test-retest reliability (ICC 0.67-0.97). Significant correlations were found between SARA and step time (r = 0.70), inter-onset interval in finger tapping (r = 0.57), and duration of hand alternation (r = 0.65). The stance task did not show significant correlations with SARA. With the SPAX-app, we present a set of digital outcome measures for potential use in clinical trials. Longitudinal studies are needed to evaluate whether these measures can track disease progression.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"71"},"PeriodicalIF":2.7,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702129","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":"Reduced Cerebellar Volumes Associate with P300 Amplitude Attenuation in Children with Clinical High Risk for Psychosis and Early Onset Psychosis.","authors":"Hanne van der Heijden, Hesham M Hamoda, Aliza Ray, Maria Goldman, Maya Golden, Kelsey Graber, Frank H Duffy, Eugene D'Angelo, Borjan Gagoski, Merve Koç Yekedüz, Carter R Petty, Jaymin Upadhyay, Joseph Gonzalez-Heydrich","doi":"10.1007/s12311-025-01822-1","DOIUrl":"https://doi.org/10.1007/s12311-025-01822-1","url":null,"abstract":"<p><p>Patients with psychotic illnesses, including early onset psychosis (EOP), often experience cognitive impairment. The cerebellum is critically involved in neurocognitive processes, yet possible regional alterations in the cerebellum and their associations with behavioral parameters remain largely unexplored in EOP. In this preliminary study, we aimed to investigate structural morphological properties of the cerebellum as well as the supratentorial brain, and how morphological changes in the central nervous system relate to neurocognitive performance in children with EOP and clinical high-risk for psychosis (CHR). We performed whole-brain structural magnetic resonance imaging (MRI) and voxel-based morphological analyses in children with EOP (N = 15), children with CHR (N = 11), and healthy controls (Con, N = 13). An auditory event-related potential (ERP) task to elicit a P300 response was also completed by a subset of children (N = 29) as a measure of neurocognitive functioning. Linear regression analyses were performed to explore relationships between cerebellar volume, cortical thickness, and P300 amplitudes. Volumetric reductions (Con > CHR > EOP) in bilateral Crus I, Crus II, lobule VI and VIIIa, left VIIIb, and right lobules V and IX of the cerebellum were observed (p < 0.05). This downward trend across study cohorts was also evident for rostral middle frontal cortical (RMFC) thickness, and for centroparietal P300 amplitudes. Significant positive correlations among P300 amplitudes and cerebellar volumes were observed (p < 0.05). Significant correlations between P300 amplitudes and RMFC thickness were not present. Robust morphological disruptions in cerebellar subdivisions and frontal subdivisions were quantified in children with EOP. Structural abnormalities in these regions, particularly in the cerebellum, may signify broader brain network disruptions, potentially contributing to neurocognitive dysfunction in EOP.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"69"},"PeriodicalIF":2.7,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674942","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 Review on Radiologic Hot Cross Bun Sign and Related Clinical Conditions.","authors":"Mehri Salari, Mohammad Golzarian, Kamran Rezaei, Masoud Etemadifar","doi":"10.1007/s12311-025-01830-1","DOIUrl":"https://doi.org/10.1007/s12311-025-01830-1","url":null,"abstract":"<p><p>The hot cross bun (HCB) sign is a cruciform-shaped hyperintensity on axial T2 weighted-image magnetic resonance imaging (MRI), mostly reported with multiple system atrophy (MSA). However, several other diagnoses were reported with this radiologic manifestation as well. This review investigates the wide spectrum of disorders in which the HCB sign has been reported as a positive radiologic manifestation. This narrative review was conducted using the PubMed database. Studies reporting the HCB sign in their manuscript are included in this manuscript. 83 studies with available full text met the inclusion criteria for this review. The total number of reported patients with HCB sign is addressed in the manuscript. In addition to MSA, the HCB sign has been reported in various other disorders, including spinocerebellar ataxia, malignancies, infections, autoimmune disorders, and some vascular and ischemic changes. Any disorder involving the pontocerebellar fibers can manifest the HCB sign following the gliosis changes or infarction-mediated damage to the region, whether due to gliosis changes. The range of diseases linked to the HCB sign is broader than previously recognized, as numerous disorders affect the transverse pontocerebellar fibers and cause radiologic HCB manifestation. MSA remains the most common condition; however, clinicians should consider alternate differential diagnoses in patients displaying the HCB sign in whom clinical presentation is not typical of MSA.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"70"},"PeriodicalIF":2.7,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674939","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 Rare Patient of SEZ6L2 Antibody-Associated Cerebellar Ataxia.","authors":"Chen-Hui Cao, Wen-Li Li, Yao Zhang, Ting Wei, Chun-Lin Yang, Xiao-Li Li, Bin Liu","doi":"10.1007/s12311-025-01824-z","DOIUrl":"https://doi.org/10.1007/s12311-025-01824-z","url":null,"abstract":"","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"68"},"PeriodicalIF":2.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671527","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}