CerebellumPub Date : 2025-05-31DOI: 10.1007/s12311-025-01858-3
Isabelle Lessard, Luc J Hébert, Bernard Brais, Elise Duchesne, Xavier Rodrigue, Jean-Denis Brisson, François Routhier, Krista Best, Isabelle Côté, Cynthia Gagnon
{"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":"https://doi.org/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}
CerebellumPub Date : 2025-05-24DOI: 10.1007/s12311-025-01857-4
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
{"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}
CerebellumPub Date : 2025-05-24DOI: 10.1007/s12311-025-01856-5
Thomas Klockgether, Marcus Grobe-Einsler, Jennifer Faber
{"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}
CerebellumPub Date : 2025-05-23DOI: 10.1007/s12311-025-01853-8
Linlin Ye, Wanying Zhao, Yichen Zhang, Weiqun Song, Huanxin Xie, Lei Cao
{"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":"https://doi.org/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}
CerebellumPub Date : 2025-05-23DOI: 10.1007/s12311-025-01859-2
Donna L Gruol
{"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}
CerebellumPub Date : 2025-05-19DOI: 10.1007/s12311-025-01855-6
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
{"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}
CerebellumPub Date : 2025-05-19DOI: 10.1007/s12311-025-01852-9
Mirko Micovic, Bojana Zivkovic, Ivan Vukasinovic, Aleksandra Nedeljkovic, Zarko Nedeljkovic, Vladimir Bascarevic
{"title":"Trauma-Induced Cerebellar Edema: A Rare Presentation of Infratentorial Developmental Venous Anomaly in a Pediatric Patient.","authors":"Mirko Micovic, Bojana Zivkovic, Ivan Vukasinovic, Aleksandra Nedeljkovic, Zarko Nedeljkovic, Vladimir Bascarevic","doi":"10.1007/s12311-025-01852-9","DOIUrl":"https://doi.org/10.1007/s12311-025-01852-9","url":null,"abstract":"<p><strong>Introduction: </strong>Developmental venous anomaly (DVA) is a common cerebral vascular variant, typically considered benign and clinically silent. We report an exceptional case of a symptomatic infratentorial DVA in a 9-year-old child that became clinically evident after a minor head trauma.</p><p><strong>Case report: </strong>The patient presented with neurological symptoms indicative of posterior fossa involvement, including headache, nausea, and ataxia. MRI revealed a cluster of abnormally dilated medullary veins in the right cerebellar hemisphere converging into an enlarged collector vein, consistent with a DVA. Significant cerebellar edema was identified in association with detected vascular malformation. The patient was managed conservatively with antiedematous therapy and analgesics, which led to rapid resolution of symptoms and complete recovery.</p><p><strong>Conclusion: </strong>This case demonstrates that DVAs can become acutely symptomatic secondary to significant vasogenic edema following even minor head trauma, likely due to transient hemodynamic disturbance without thrombosis or hemorrhage. Our findings challenge the perception of DVAs as invariably benign entities and warrant further investigation into their post-traumatic pathophysiology.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"100"},"PeriodicalIF":2.7,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095665","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}
CerebellumPub Date : 2025-05-15DOI: 10.1007/s12311-025-01850-x
Louis-Charles Masson, Atchaya S Kanagasabai, Brenda Toscano Márquez, Julia Tourbina-Kolomiets, Francois Charron, Alanna J Watt, R Anne McKinney
{"title":"Alterations in the Na<sup>+</sup>/H<sup>+</sup> Exchanger NHE6 and Glutamate Transporters may Influence Purkinje Cell Fate in ARSACS.","authors":"Louis-Charles Masson, Atchaya S Kanagasabai, Brenda Toscano Márquez, Julia Tourbina-Kolomiets, Francois Charron, Alanna J Watt, R Anne McKinney","doi":"10.1007/s12311-025-01850-x","DOIUrl":"10.1007/s12311-025-01850-x","url":null,"abstract":"<p><p>Patterned cell death is a common feature of many neurodegenerative diseases. This is apparent in cerebellar Purkinje cells (PCs) in patients and mouse models of Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). In ARSACS, PCs in the anterior cerebellar vermis are vulnerable to degeneration while those in the posterior vermis are resilient. As the mechanisms underpinning cerebellar pathophysiology in ARSACS are not fully understood, we chose to investigate two important regulatory pathways for cellular health in neurons: (1) the autophagy-lysosome pathway which is important for the trafficking of cargo essential for proper neuronal function, as well as (2) excitatory amino acid transporters (EAATs) that regulate extracellular glutamate levels. Using a mouse model of ARSACS (Sacs<sup>-</sup>/<sup>-</sup>), we found a significant decrease in the Na<sup>+</sup>/H<sup>+</sup> exchanger 6 (NHE6) in the PCs in the vulnerable anterior but not resilient posterior cerebellum. We looked at two EAATs that are highly expressed in the cerebellum: EAAT1 and EAAT4. Glial EAAT1 levels were significantly reduced in both anterior and posterior lobules, which could lead to excitotoxicity. However, the neuronal EAAT4 protein was elevated only in the resilient posterior PCs, likely counteracting the effects of reduced EAAT1 in posterior cerebellum. These results point to possible impairment in the endocytic pathway in the ARSACS cerebellum, and an elevation of EAAT4 glutamate transporters in the resilient posterior lobules of the cerebellar vermis that may contribute to neuroprotection.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"99"},"PeriodicalIF":2.7,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12081547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081823","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":"Respiratory Evaluation in Spinocerebellar ataxia Type 2.","authors":"Celiana Figueiredo Viana, Cristina Saade Jaques, Marcio Luiz Escorcio-Bezerra, José Luiz Pedroso, Orlando Graziani Povoas Barsottini","doi":"10.1007/s12311-025-01845-8","DOIUrl":"https://doi.org/10.1007/s12311-025-01845-8","url":null,"abstract":"<p><p>Spinocerebellar ataxia type 2 (SCA2) is a progressive cerebellar syndrome that may lead to respiratory impairments. However, our understanding of the degree and characteristics of the respiratory involvement in SCA2 individuals remains limited. This study evaluates respiratory in SCA2 patients. This cross-sectional study included a group of controls and patients with SCA2. Participants underwent assessments including spirometry, maximal inspiratory (MIP) and expiratory (MEP) pressures, sniff nasal inspiratory pressure (SNIP), cough flow peak (CFPs), neurophysiological right phrenic and accessory nerves conduction studies and evaluations with the SARA and ICARS ataxia severity scales. A total of 16 adults with SCA2, and 20 healthy controls were included. Patients with SCA2 exhibited significantly reduced respiratory parameters compared to healthy controls. Key findings included lower forced vital capacity (FVC), forced expiratory volume in 1 s (FEV<sub>1</sub>), and peak expiratory flow (PEF), with reductions observed in both absolute values and percentages (p < 0.01). They also showed decreased maximal inspiratory (MIP) and expiratory pressures (MEP), sniff nasal inspiratory pressure (SNIP), cough flow peak (CFP) values and oxygen saturation (SpO₂), reduced amplitude of motor potentials of the right phrenic nerve and increased end-tidal CO₂ (ETCO₂). The combined involvement of respiratory and neurophysiological parameters reflects impairment of both pulmonary capacity and respiratory muscle strength. Patients with SCA2 have significant impairment in respiratory parameters, including reduced pulmonary capacity and respiratory muscle strength, compared to healthy subjects. These findings highlight the relevance of including respiratory assessment and target interventions as part of the clinical management of patients with SCA2.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"98"},"PeriodicalIF":2.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040155","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":"Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome can Lead to Long-Term Neurological, Neuropsychological, and Cognitive Sequelae Associated with Cerebellar Atrophy.","authors":"Marina Martinez Popple, Mariasavina Severino, Deborah Preiti, Massimo Conte, Angela Pistorio, Agata Zoia, Costanza Parodi, Domenico Tortora, Valentina Ambrosino, Andrea Rossi, Lino Nobili, Elisa De Grandis","doi":"10.1007/s12311-025-01846-7","DOIUrl":"https://doi.org/10.1007/s12311-025-01846-7","url":null,"abstract":"<p><p>To outline the long-term neuropsychological profile of a pediatric cohort with Opsoclonus-Myoclonus-Ataxia Syndrome (OMAS), and evaluate whether volumetric brain abnormalities correlate with clinical findings years after onset. Twelve patients diagnosed with OMAS between 2008 and 2020 (6 males, mean age 9.6 years, median follow-up 5.4 years) underwent a videorecorded neurological examination and a standardized cognitive and neuropsychological assessment. Patients and 12 age-matched controls underwent advanced 3-Tesla brain MRI studies. Voxel-Based Morphometry (VBM) and targeted cerebellar evaluation using ACAPULCO and ENIGMA pipelines were performed. The results were correlated with neuropsychological scores. Nine subjects (75%) had abnormal neurological findings (dysmetria n = 7, balance deficit n = 7, and speech impairment n = 6). The mean Full-Scale IQ was 76, with borderline IQ in 2 cases, intellectual disability in 5, visuospatial processing impairments in 6, and affective and internalizing issues in 7. Brain MRI and VBM showed mild cerebellar atrophy (41.6%), especially in Crus I-II, IV, VIIIa and VIIb lobules. Reduced gray matter volumes were noted in the precentral, inferior-occipital and middle orbitofrontal gyrus, while larger volumes were found in the ventral diencephalon fusiform and inferior temporal gyri. Lower white matter volumes were found in the cerebellum, superior frontal gyrus, midbrain, postcentral and precentral gyri. Patients with lower cognitive scores, especially in Working Memory and Processing Speed, had smaller volumes in several cerebellar lobules (p = 0.001). Smaller cerebellar volumes correlate with lower cognitive scores at long-term follow-up, confirming not only the role of the cerebellum in the pathogenesis of OMAS, but also its role in cognitive functioning.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"97"},"PeriodicalIF":2.7,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006511","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}