Cerebellum最新文献

{"title":"The Cerebellar Neuropsychiatric Rating Scale: A New Card in the Deck.","authors":"Stefan Fritze, Roberta Ferrucci, Mario Manto","doi":"10.1007/s12311-025-01802-5","DOIUrl":"10.1007/s12311-025-01802-5","url":null,"abstract":"<p><p>Research on the cerebellum has come a long and impressive way. While traditionally assumed as only engaged in motor control, rediscovery of early literature reports and recent studies also point to the cerebellum´s role in vestibular and cognitive affective functioning at the frontiers of psychiatry. Indeed, damage to the cerebellum often leads to consequences in cognitive affective functioning, including deficits in executive, visuo-spatial and linguistic functioning as well as affect regulation. However, in order to further disseminate these scientific advances and to provide palpable progress to clinicians, smart tools that can be applied in daily clinical practice need to be developed. In particular, rating scales, which remain the most robust clinical method in the assessment of cerebellar patients, need to be developed. Although neuropsychiatric symptoms of cerebellar disease are common, they do not conform to DSM-5 diagnostic categories of psychiatric disorders. The Cerebellar Neuropsychiatric Rating Scale (CNRS), an informant-based questionnaire reported by Daly et al., may fill this gap, allowing clinicians for the first time to capture and quantify neuropsychiatric symptoms that have often been overlooked in ataxias in the past. The CNRS may represent a reliable instrument in ataxias. The scale offers a promising tool for early detection and targeted intervention, fostering interdisciplinary collaboration between neurologists, psychiatrists, and psychologists. Future developments may refine its clinical applicability, expand its use to other neurological disorders, and integrate digital health solutions to enhance real-world assessment and treatment.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"57"},"PeriodicalIF":2.7,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143544458","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":"The Cerebellar Neuropsychiatric Rating Scale.","authors":"Maureen P Daly, Janet C Sherman, Jeremy D Schmahmann","doi":"10.1007/s12311-025-01799-x","DOIUrl":"10.1007/s12311-025-01799-x","url":null,"abstract":"<p><p>The triad of cerebellar ataxiology is the cerebellar motor, vestibular, and cerebellar cognitive affective / Schmahmann syndrome (CCAS). The CCAS affective component comprises 5 domains: Attentional control, Emotional control, Autism spectrum, Psychosis spectrum, and Social Skill Set, each with hypermetric / overshoot and hypometric / undershoot poles reflecting the dysmetria of thought and universal cerebellar transform theories. There is no validated screening instrument to assess neuropsychiatric impairments in patients with cerebellar disorders. To examine the psychometric properties of our Cerebellar Neuropsychiatric Rating Scale (CNRS) that explores these symptoms and behaviors in patients with cerebellar disorders, 21 adults with ataxia completed the CNRS and other validation measures: the Behavior Rating Inventory of Executive Function-Adult Version Informant Report, Adult Behavior Checklist, Older Adult Behavior Checklist, Neuropsychiatric Inventory Questionnaire. We examined CNRS internal consistency using Cronbach's alpha, assessed item to subscale correlations, studied ceiling and floor effects, and convergent construct validity between CNRS and validity measure subscales. Internal consistency was α > 0.70 for each of the five domains. Subscale structure was generally confirmed: 86% of correlations between CNRS and validity subscales were significant. There were no ceiling effects. Item to subscale correlations indicated adequate reliability for total scale and subdomains. NPI-Q and CNRS scores were correlated, and 86.4% (19/22) of conceptually related subscales were significant. The CNRS is a reliable and valid measure of cerebellar neuropsychiatry. Further development can refine the instrument and shed light on the patient experience of their affective dysregulation and its clinical meaningfulness.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"56"},"PeriodicalIF":2.7,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143544531","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":"Lurcher Mouse as a Model of Cerebellar Syndromes.","authors":"Nilpawan Roy Choudhury, Pascal Hilber, Jan Cendelin","doi":"10.1007/s12311-025-01810-5","DOIUrl":"10.1007/s12311-025-01810-5","url":null,"abstract":"<p><p>Cerebellar extinction lesions can manifest themselves with cerebellar motor and cerebellar cognitive affective syndromes. For investigation of the functions of the cerebellum and the pathogenesis of cerebellar diseases, particularly hereditary neurodegenerative cerebellar ataxias, various cerebellar mutant mice are used. The Lurcher mouse is a model of selective olivocerebellar degeneration with early onset and rapid progress. These mice show both motor deficits as well as cognitive and behavioral changes i.e., pathological phenotype in the functional domains affected in cerebellar patients. Therefore, Lurcher mice might be considered as a tool to investigate the mechanisms of functional impairments caused by cerebellar degenerative diseases. There are, however, limitations due to the particular features of the neurodegenerative process and a lack of possibilities to examine some processes in mice. The main advantage of Lurcher mice would be the expected absence of significant neuropathologies outside the olivocerebellar system that modify the complex behavioral phenotype in less selective models. However, detailed examinations and further thorough validation of the model are needed to verify this assumption.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"54"},"PeriodicalIF":2.7,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11868327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143525056","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":"A Gene-Expression Based Comparison of Murine and Human Inhibitory Interneurons in the Cerebellar Cortex and Nuclei.","authors":"Karl Schilling","doi":"10.1007/s12311-025-01809-y","DOIUrl":"10.1007/s12311-025-01809-y","url":null,"abstract":"<p><p>Cerebellar information processing is critically shaped by several types of inhibitory interneurons forming various intra-cerebellar feed-forward and feed-back loops. Evidence gathered over the past decades has focused interest on a non-uniform set of cortical inhibitory interneurons distinct from \"classical\" Golgi, basket or stellate cells, summarily referred to as PLIs (for Purkinje cell layer interneurons). Similarly, cerebellar nuclear inhibitory interneurons have gained increasing attention. Our understanding of the functions of these cells is still fragmentary. For humans, we lack functional data, and even any dependable morphological classification for these cells. Here, I used publicly available single cell based gene expression data to compare inhibitory interneurons from the cerebellar cortex and inhibitory nuclear neurons of humans and mice. Integration of nuclear and cortical cells revealed transcriptomic similarities between subsets of these cells and suggest known characteristics of cortical cell types may be helpful to devise strategies for the further characterization of nuclear inhibitory interneurons. Comparison of human and murine PLIs indicate that these strongly differ by the expression of genes used to characterize these cells in mice. This limits their utility to identify and classify human PLIs, and leaves the question open as to the number and characteristics of non-Golgi inhibitory interneurons resident in the cerebellar granule cell and Purkinje cell layers in humans.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"55"},"PeriodicalIF":2.7,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11870911/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143525055","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":"MRI Shrimp Sign and Parietooccipital Lesion in Progressive Multifocal Leukoencephalopathy.","authors":"Wen-Qian Luo, Bin Liu, Chun-Lin Yang, Ze-Yu Zhao, Guan-Qing Wang, Xiao-Li Li, Peng Zhang","doi":"10.1007/s12311-025-01807-0","DOIUrl":"10.1007/s12311-025-01807-0","url":null,"abstract":"<p><p>Recognizing the MRI characteristics of progressive multifocal leukoencephalopathy is essential for early diagnosis. This report describes the oldest known case of an 83-year-old man with rapidly progressive dementia and HIV-associated classic PML. Brain MRI revealed hallmark findings, including asymmetric, continuous, non-enhancing subcortical lesions in the parietooccipital regions and the \"shrimp sign\" in the cerebellar white matter. These characteristic imaging patterns, in the appropriate clinical context, are clues for the early identification of PML.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"53"},"PeriodicalIF":2.7,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476516","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":"Cerebellar Alterations in Autism Spectrum Disorder: A Mini-Review.","authors":"Bianca Andrade Rodrigues, Josiane do Nascimento Silva, Elisa Mitiko Kawamoto","doi":"10.1007/s12311-025-01806-1","DOIUrl":"10.1007/s12311-025-01806-1","url":null,"abstract":"<p><p>Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social communication and restricted and repetitive patterns of behavior. In addition, individuals diagnosed with ASD may also present cognitive impairments. The neurobiological mechanisms possibly associated with the cause of ASD have not yet been fully elucidated. Studies suggest that brain alterations, especially in the cerebellum, play a fundamental role in the etiology of ASD. This brain region, traditionally associated with motor control, has been implicated in several cognitive and emotional processes, many of which are impaired in autistic individuals. This mini-review examines the evidence on cerebellar abnormalities associated with ASD, discussing their implications for the understanding and treatment of the disorder.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"52"},"PeriodicalIF":2.7,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476554","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":"Estradiol Enhances Cerebellar Molecular Layer Interneuron-Purkinje Cell Synaptic Transmission and Improves Motor Learning Through ER-β in Vivo in Mice.","authors":"Yong-Rui Piao, Mei-Rui Li, Ming-Ze Sun, Yang Liu, Chao-Yue Chen, Chun-Ping Chu, Yuki Todo, Zheng Tang, Chun-Yan Wang, Wen-Zhe Jin, De-Lai Qiu","doi":"10.1007/s12311-025-01805-2","DOIUrl":"10.1007/s12311-025-01805-2","url":null,"abstract":"<p><p>In the cerebellar cortex, 17β-estradiol (E2) binds to estrogen receptors (ERs) and plays a role in regulating cerebellar synaptic plasticity and motor learning behaviors. However, the underlying mechanisms remain unclear. In this study, we investigated the effects of E2 on synaptic transmission between cerebellar molecular layer interneurons (MLIs) and Purkinje cells (PCs) in urethane-anesthetized mice. Using in vivo cell-attached and whole-cell recordings combined with immunohistochemistry, we examined MLI-PC synaptic responses elicited by facial air-puff stimulation. Cell-attached recordings from PCs demonstrated that air-puff stimulation of the ipsilateral whisker pad elicited MLI-PC synaptic currents (P1), which were significantly enhanced by local micro-application of E2 to the cerebellar molecular layer. The E2-induced potentiation of P1 amplitude exhibited dose dependency, with a 50% effective concentration (EC50) of 30 nM. The effects of E2 on amplitude of P1 and pause of simple spike firing were completely prevented by blockade of ERs or ERβ, but not by blockade of ERα or a G-protein coupled receptor (GPER). Application of a selective ERβ agonist mimicked and overwhelmed the E2-induced enhancement of the MLI-PC synaptic transmission. Whole-cell recording with biocytin staining showing that E2 does not change the spontaneous and the evoked spike firing properties of basket-type MLIs. Rotarod test indicated that microinjection of E2 onto the cerebellar surface significantly promotes initial motor learning ability, which is abolished by blockade of ERβ. ERβ immunoreactivity was expressed in the ML and PC layer, especially around the PC somata in the mouse cerebellar cortex. These results indicate that E2 binds to ERβ, resulting in an enhance in the cerebellar MLI-PC synaptic transmission and an improvement of initial motor learning ability in vivo in mice.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"51"},"PeriodicalIF":2.7,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469960","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":"Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation.","authors":"Olivia E Rowe, D Rangaprakash, Florian S Eichler, Jeremy D Schmahmann, Robert L Barry, Christopher D Stephen","doi":"10.1007/s12311-025-01803-4","DOIUrl":"10.1007/s12311-025-01803-4","url":null,"abstract":"<p><p>Late-Onset GM2-Gangliosidoses (LOGG) are rare, neurodegenerative lysosomal disorders that include late-onset Tay-Sachs (LOTS) and Sandhoff disease (LOSD) subtypes. Cerebellar atrophy is common, even in the absence of clinical ataxia, particularly in LOTS. Recent reports have also described brainstem atrophy in LOTS. We assessed brainstem substructure atrophy in LOGG, including LOSD. 10 LOGG patients (7 LOTS, 3 LOSD) and 7 age-matched controls had structural MRI brain imaging. A FreeSurfer brainstem substructure module was used for automatic segmentation and included the pons, medulla, superior cerebellar peduncle (SCP), midbrain, and total brainstem. Clinical ataxia severity was assessed with the LOTS Severity Scale, Brief Ataxia Rating Scale, Friedreich's Ataxia Rating Scale and Scale for the Assessment and Rating of Ataxia. There were differences between LOGG and controls in the pons (12,785.06 ± 1,603.84 vs. 15,457.14 ± 2,748.41 mm³, p = 0.0069) and SCP (196.93 ± 31.20 vs. 293.57 ± .70.16 mm³, p = 0.0003). In LOTS vs. controls, there was similar pons (p = 0.0055) and SCP atrophy (p = 0.0023). The LOSD group was too small for independent comparisons. There were no significant associations between SCP/pons volume and clinical scales or disease duration. Cerebellar volume, which was analyzed in a previous study by Rowe et al. (2021), was relatively preserved in LOSD compared to the SCP/pons, while in LOTS, the pontocerebellar atrophy profile was dominated by cerebellar atrophy. These findings provide anatomical and clinical insights to the cerebellar/brainstem atrophy observed in LOGG and highlight a need to stratify LOGG by subtypes.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"50"},"PeriodicalIF":2.7,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450797","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":"Radiomics-based Modelling Unveils Cerebellar Involvement in Parkinson's Disease.","authors":"Yini Chen, Yiwei Qi, Yiying Hu, Tao Qiu, Meichen Liu, Qiqi Jia, Yubing Sun, Xinhui Qiu, Bo Sun, Zhanhua Liang, Weidong Le, Tianbai Li","doi":"10.1007/s12311-025-01797-z","DOIUrl":"10.1007/s12311-025-01797-z","url":null,"abstract":"<p><p>Emerging pathological and neurophysiological evidence has highlighted the cerebellum's involvement in Parkinson's disease (PD). This study aimed to explore the potential of cerebellum-derived magnetic resonance imaging (MRI) radiomics in distinguishing PD patients from healthy controls (HC). A retrospective analysis was conducted using three-dimensional-T1 MRI data (n= 374) from the Parkinson's Progression Markers Initiative (PPMI) dataset (n= 204) and an independent in-house cohort (n= 170). Radiomic features (n= 883) were extracted from the cerebellar gray and white matter of each individual. Three machine learning models were developed: a cerebellar gray matter model, a cerebellar white matter model, and a combined gray and white matter model, to classify PD patients and HC. The results showed that the cerebellar gray matter model achieved an area under the receiver operating characteristic (ROC) curve (AUC) of 0.931 in the training set, with a sensitivity of 60.8% and specificity of 97.1%, while in the testing set, it obtained an AUC of 0.874, with a sensitivity of 86.1% and specificity of 62.6%. The white matter-based model demonstrated an AUC of 0.846 (sensitivity, 59.8%; specificity, 87.3%) in the training set and an AUC of 0.868 (sensitivity, 81.0%; specificity, 75.8%) in the testing set. Notably, the combined gray and white matter model exhibited superior performance, achieving an AUC of 0.936 (sensitivity, 65.7%; specificity, 96.1%) in the training set and an AUC of 0.881 (sensitivity, 82.3%; specificity, 63.7%) in the testing set. Key radiomic features contributing to PD classification included Gray-level Dependence Matrix, Gray-level Co-occurrence Matrix and First-Order from gray matter, as well as Gray-level Size Zone Matrix from white matter, highlighting significant radiomics changes in the cerebellum associated with PD. In conclusion, this study demonstrates that MRI radiomics of cerebellar gray and white matter can effectively differentiate PD patients from HC, supporting the cerebellum's pivotal role in PD pathology and its potential as an imaging biomarker for PD.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"48"},"PeriodicalIF":2.7,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442676","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 Protective Effects of Edaravone in Cerebellar and Hippocampal Ischemic Injury Models.","authors":"Jens Dickmeiß, Yoshiyuki Henning, Sarah Stahlke, Thomas Weber, Carsten Theiss, Veronika Matschke","doi":"10.1007/s12311-025-01804-3","DOIUrl":"10.1007/s12311-025-01804-3","url":null,"abstract":"<p><p>Ischemic stroke is a leading cause of mortality and disability, with cerebellar strokes posing severe complications such as herniation and brainstem compression. Edaravone, a radical scavenger known for reducing oxidative stress, has shown neuroprotective effects in cerebral strokes, but its impact on cerebellar strokes remains unclear. This study investigates Edaravone's protective properties in organotypic slice cultures of rat cerebellum and hippocampus, employing an oxygen-glucose deprivation (OGD) model to simulate ischemic stroke. The hippocampus served as comparative structure due to its high hypoxia sensitivity. Our results confirmed effective hypoxic induction with increases in HIF-1α and HIF-2α expression. Edaravone significantly reduced lactate dehydrogenase (LDH) levels, indicating diminished cellular damage, with cerebellar tissues showing greater vulnerability. Additionally, Edaravone reduced reactive oxygen species (ROS) in both tissues, though its efficacy may be limited by higher oxidative stress in cerebellar cultures. Seahorse XF analysis revealed that Edaravone preserved mitochondrial respiration and tissue integrity in cerebellar and hippocampal slice cultures. However, Edaravone was more effective in preserving mitochondrial respiration in hippocampal slices, suggesting that OGD-induced damage is more severe in cerebellar tissue. In conclusion, Edaravone demonstrates significant cell protective effects in both cerebellar and hippocampal tissues under OGD conditions, preserving tissue integrity and enhancing mitochondrial function in a tissue-dependent manner. These findings suggest Edaravone as a promising therapeutic candidate for cerebellar stroke. Further in vivo studies are required to assess its full clinical potential.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"49"},"PeriodicalIF":2.7,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11835913/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442675","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}