Cerebellum最新文献

{"title":"ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy.","authors":"Aurelio Jara-Prado, Eukeni Arias-Capistran, Jorge Guerrero-Camacho, Adriana Ochoa-Morales, Marie Catherine Boll, David Dávila-Ortíz de Montellano, Astrid Rasmussen, Tetsuo Ashizawa, Juan Fernandez-Ruiz, Petra Yescas-Gómez, Miguel Ángel Ramírez-García","doi":"10.1007/s12311-024-01784-w","DOIUrl":"https://doi.org/10.1007/s12311-024-01784-w","url":null,"abstract":"<p><p>Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant (AD) neurodegenerative disorder prevalent in the Americas, particularly in Mexico. Clinical manifestations include progressive ataxia and epilepsy. However, it can exhibit wide phenotypic variability and even reduced penetrance. Because the diagnostic overlaps with other ataxias, molecular diagnosis is essential. This cross-sectional study conducted a retrospective review and analysis of 183 DNA samples from a laboratory registry of patients with ataxia who were suspected of having AD ataxia (n = 86; negative for ATXN1, ATXN2, ATXN3, ATXN7, TBP, and ATN1 genes) or sporadic ataxia (n = 97). Triplet repeat-primed PCR (TP-PCR) was performed to identify ATXN10 gene expansions. 19.6% (n = 36) of the samples showed ATXN10 expansions, with a higher proportion of hereditary AD cases (30.2%; n = 26) compared to sporadic cases (10.3%; n = 10). Clinical information was available in only 23 registries, with manifestations predominantly including cerebellar signs, but notably not epilepsy. The frequency of SCA10 in our country underlines the need to change the diagnostic suspicion, as the absence of epilepsy challenges previous diagnostic assumptions. As this is a study from a laboratory registry, we are aware of certain limitations.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"33"},"PeriodicalIF":2.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143055930","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":"Delayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27B.","authors":"Tsz Hang Wong, Jamie Manuputty, Tom van Seeters, Erik-Jan Kamsteeg, Bart van de Warrenburg","doi":"10.1007/s12311-025-01786-2","DOIUrl":"https://doi.org/10.1007/s12311-025-01786-2","url":null,"abstract":"<p><p>Repeat expansions in the fibroblast growth factor 14 gene (FGF14), associated with spinocerebellar ataxia type 27B (SCA27B), have emerged as a prevalent cause of previously unexplained late-onset cerebellar ataxia. Here, we present a patient with residual symptom of gait ataxia after complicated meningioma surgery, who presented with progressive symptoms of oculomotor disturbances, speech difficulties, vertigo and worsening of gait imbalance, twelve years post-resection. Neuroimaging revealed a surgical resection cavity in the dorsolateral side of the left cerebellar hemisphere, accompanied by gliosis in left cerebellar hemisphere extending into the vermis, extensive non-specific supratentorial periventricular white matter abnormalities, and mild atrophy of the cerebellar vermis. Initially, her symptoms were attributed to re-emergence of her cerebellar symptoms related to the static cerebellar lesion, and due to a failure of compensatory mechanisms with aging. However, the progressive nature of her cerebellar symptoms and the emergence of novel downbeat nystagmus prompted genetic testing for FGF14 repeat expansion, confirming SCA27B as a significant contributor to her delayed, progressive cerebellar symptoms. This case highlights the significance of considering SCA27B in the differential diagnosis of delayed progressive cerebellar ataxia with oculomotor abnormalities in the presence of a static cerebellar lesion.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"32"},"PeriodicalIF":2.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11739311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143055944","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":"Altered Intracerebellar Functional Connectivity in Friedreich's Ataxia: A Graph-Theory Functional MRI Study.","authors":"Mario Tranfa, Teresa Costabile, Giuseppe Pontillo, Alessandra Scaravilli, Chiara Pane, Arturo Brunetti, Francesco Saccà, Sirio Cocozza","doi":"10.1007/s12311-025-01785-3","DOIUrl":"10.1007/s12311-025-01785-3","url":null,"abstract":"<p><p>Historically, Friedreich's Ataxia (FRDA) has been linked to a relatively preserved cerebellar cortex. Recent advances in neuroimaging have revealed altered cerebello-cerebral functional connectivity (FC), but the extent of intra-cerebellar FC changes and their impact on cognition remains unclear. This study investigates intra-cerebellar FC alterations and their cognitive implications in FRDA. In this cross-sectional, single-center study, resting-state functional MRI data from 17 patients with FRDA (average age 27.7 ± 13.6 years; F/M = 6/11) and 20 healthy controls (HC) (average age 29.4 ± 9.7 years; F/M = 9/11), all of whom underwent neuropsychological testing, were analyzed. From functional connectivity matrices, graph measures were computed at both the network and node levels using two complementary parcellations. FRDA patients exhibited decreased global efficiency (p = 0.04), nodal degree (p = 0.001) and betweenness centrality (p = 0.04) in the vermal portion of lobule VIII, along with reduced global efficiency in cerebellar regions belonging to the Control-A network (p = 0.02), one of the three subdivisions of the Frontoparietal network. Verbal memory deficits correlated with global efficiency in both the vermal portion of lobule VIII (r = 0.53, p = 0.02) and the cerebellar regions of the Control-A network (r = 0.49, p = 0.05). Graph analysis revealed regional intra-cerebellar FC changes in FRDA, marked by reduced functional centrality in cerebellar regions of the vermis and responsible for executive functions. These changes correlated with cognitive alterations, highlighting the role of the cerebellar cortex in the cognitive impairment observed in FRDA.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 2","pages":"30"},"PeriodicalIF":2.7,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980573","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":"Time Dependent Effects of Cerebellar tDCS on Cerebello-cortical Connectivity Networks in Young Adults.","authors":"Ted Maldonado, T Bryan Jackson, Zeynab Rezaee, Jessica A Bernard","doi":"10.1007/s12311-024-01781-z","DOIUrl":"10.1007/s12311-024-01781-z","url":null,"abstract":"<p><p>The cerebellum is involved in non-motor processing, supported by topographically distinct cerebellar activations and closed-loop circuits between the cerebellum and the cortex. Disruptions to cerebellar function may negatively impact prefrontal function and processing. Cerebellar resources may be important for offloading cortical processing, providing crucial scaffolding for normative performance and function. Here, we used transcranial direct current stimulation (tDCS) to temporarily alter cerebellar function and subsequently investigated resting state network connectivity. Critically, what happens to these circuits if the cerebellum is not functioning optimally, or after stimulation, remains relatively unknown. We employed a between-subjects design with 74 participants total (38 female; M = 22.0 years, SD = 3.45), applying anodal (n = 25), cathodal (n = 25), or sham (n = 24) stimulation to the cerebellum to examine the effect of stimulation on cerebello-cortical resting state connectivity in young adults. We predicted increased functional connectivity following cathodal stimulation and decreased functional connectivity following anodal stimulation. We found, anodal stimulation resulted in increased connectivity in both ipsilateral and contralateral regions of the cortex, perhaps indicative of a compensatory response to degraded cerebellar output. Additionally, a window analysis also demonstrated a time dependent nature to the impacts of cerebellar tDCS on connectivity, particularly with cognitive regions of the cerebral cortex. This work suggests that when cerebellar outputs are degraded, in this case by tDCS, the cerebellum offloads its processing responsibility which encourages more cortical regions to engage to compensate for the degraded cerebellar output. This results in in differences in cortical activation patterns and performance deficits. These results might inform and update existing compensatory models, which focus primarily on the cortex, to include the cerebellum as a vital structure involved in the scaffolding of cortical processing.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"29"},"PeriodicalIF":2.7,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967473","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":"Resting-State Cortico-Cerebellar Connectivity Correlates with Post-Stroke Motor Recovery - A Prospective Functional MRI Study.","authors":"Timo Delion, Thomas Jacquemont, Lina Daghsen, Romain Valabregue, Elena Beanato, Friedhelm Hummel, Eric Moulton, Chiara Zavanone, Sophie Dupont, Cécile Gallea, Charlotte Rosso","doi":"10.1007/s12311-024-01783-x","DOIUrl":"10.1007/s12311-024-01783-x","url":null,"abstract":"<p><p>Cerebellar functional and structural connectivity are likely related to motor function after stroke. Less is known about motor recovery, which is defined as a gain of function between two time points, and about the involvement of the cerebellum. Fifteen patients who were hospitalized between 2018 and 2020 for a first cerebral ischemic event with persistent upper limb deficits were assessed by resting-state functional MRI (rsfMRI) and clinical motor score measurements at 3, 9 and 15 weeks after stroke. Age- and sex-matched healthy subjects (n = 15) were assessed once. The objectives were (1) to study whether the level of connectivity between the contralesional cerebellum (lobules IV-V-VI and lobule VIII) and the ipsilesional motor regions on rsfMRI is predictive of motor recovery and (2) to compare these connectivities with those of healthy subjects. Upper limb motor recovery was positively correlated with functional connectivity between contralesional cerebellar lobule VIII and the ipsilesional supplementary motor area (SMA). The greater the connectivity between these regions, the better the motor recovery. In patients, the corticocerebellar network between lobule IV-V-VI and the ipsilesional M1 and SMA showed weaker synchronization at rest than in healthy subjects. Cortico-cortical connectivity was not associated with recovery. Resting-state functional connectivity, including contralesional cerebellar lobule VIII, could be a tool for studying and predicting recovery in stroke patients. Our study highlights the role of the cerebellum in motor recovery after stroke, enabling us to consider new therapeutic targets in neuromodulation.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"28"},"PeriodicalIF":2.7,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142958373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cognitive Health After Cerebellar Stroke: Potential Link Between Socio-Educational Status and Memory Outcome.","authors":"Philippe Voruz, Ioana Medeleine Constantin, Emilie Chassot, Marine Thomasson, Frédéric Assal, Julie Anne Péron","doi":"10.1007/s12311-024-01775-x","DOIUrl":"10.1007/s12311-024-01775-x","url":null,"abstract":"<p><p>While deficits in episodic memory have been noted following cerebellar damage, there is a lack of research systematically exploring the socio-demographic and cognitive profiles of patients with such impairments. This study aimed to differentiate between chronic-phase cerebellar stroke patients with and without verbal episodic memory deficits, and to determine whether those with deficits exhibit distinct socio-demographic and clinical profiles, thereby identifying potential factors associated with these impairments. Data from 15 cerebellar stroke patients in the CEREBEMO cohort were analyzed, with participants categorized into two groups based on verbal episodic memory performance: deficits (n = 8) and no deficits (n = 7). Statistical analyses, including Generalized Linear Mixed Models and Chi-Squared tests, compared socio-demographic and neuropsychological variables between the groups. Significant differences were observed in socio-educational levels, with a higher proportion of patients with memory deficits at intermediate education levels. Moreover, patients with memory deficits performed worse on the Montreal Cognitive Assessment and the Trail Making Test, indicating overall lower cognitive efficiency and slower processing speed. Post-hoc analysis showed that, despite the limited sample size, our sample effectively detected a significant difference between the two groups with high statistical power. These findings highlight potential socio-educational and cognitive factors associated with memory impairments following cerebellar stroke.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"27"},"PeriodicalIF":2.7,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11706898/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142958265","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":"Errors in the Spontaneous Language of Survivors of Pediatric Cerebellar Tumors.","authors":"Cheyenne Svaldi, Juan-Ignacio Galli, Philippe Paquier, Stefanie Keulen, Henrieke Van Elp, Coriene Catsman-Berrevoets, Annet Kingma, Roel Jonkers, Saskia Kohnen, Vânia de Aguiar","doi":"10.1007/s12311-024-01754-2","DOIUrl":"10.1007/s12311-024-01754-2","url":null,"abstract":"<p><p>Pediatric cerebellar tumor survivors may present with spontaneous language impairments following treatment, but the nature of these impairments is still largely unclear. A recent study by Svaldi et al. (Cerebellum. 23:523-44, 2023) found a broad spectrum of spontaneous language impairments irrespective of postoperative cerebellar mutism syndrome (pCMS) diagnosis in long-term pediatric cerebellar tumor survivors. Several patients presented with reduced grammatical or lexical accuracy, but a detailed error analysis was lacking. The present study builds on this study by 1) investigating the error types in spontaneous language across three language processing levels in the same participant group and 2) by evaluating the possible association between pCMS and the processing nature of the language impairments. Spontaneous language was evaluated in 12 long-term survivors of pediatric cerebellar tumors (M(SD) = 4;8(3;8) years), of whom five were diagnosed with pCMS. The proportion of occurrence of each error type was compared between each patient and five matched controls using individual case statistics, reflecting (lexico-)phonological (i.e., phonemic paraphasias), lexical-semantic (e.g., empty speech) and morphosyntactic processing (e.g., verb inflection errors). Each patient showed a significantly higher proportion of at least one of the included error types across all language processing levels. A higher proportion of general-all-purpose verbs and inaccurate verb inflection were the most common errors and respectively reflected lexical-semantic and morphosyntactic processing. Additional language impairments were identified using the error analysis that were not identified with standard language measures and psycholinguistic analysis, suggesting the added diagnostic value of error analyses.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"26"},"PeriodicalIF":2.7,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11703980/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142958267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.","authors":"Jake Sossamon, Patrick O'Connell, David P W Rastall","doi":"10.1007/s12311-024-01780-0","DOIUrl":"10.1007/s12311-024-01780-0","url":null,"abstract":"<p><p>A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a \"yes-yes\" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype. Management was focused on symptomatic treatment and genetic counseling. This case highlights the importance of considering DNMT1 mutations in patients with a similar clinical presentation.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"25"},"PeriodicalIF":2.7,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928747","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":"ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.","authors":"Ikhlass Haj Salem, Mathieu Blais, Valeria M Zuluaga-Sánchez, Laurence Rouleau, Esther B E Becker, Nicolas Dupré","doi":"10.1007/s12311-024-01777-9","DOIUrl":"10.1007/s12311-024-01777-9","url":null,"abstract":"<p><p>Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease caused by mutations in the SACS gene. The first two mutations were identified in French Canadian populations 20 years ago. The disease is now known as one of the most frequent recessive ataxias worldwide. Prominent features include cerebellar ataxia, pyramidal spasticity, and neuropathy. Neuropathological findings revealed cerebellar atrophy of the superior cerebellar vermis and the anterior vermis associated with Purkinje cell death, pyramidal degeneration, cortical atrophy, loss of motor neurons, and demyelinating neuropathy. No effective therapy is available for ARSACS patients but, in the last two decades, there have been significant advances in our understanding of the disease. New approaches in ARSACS, such as the reprogramming of induced pluripotent stem cells derived from patients, open exciting perspectives of discoveries. Several research questions are now emerging. Here, we review the clinical features of ARSACS as well as the cerebellar aspects of the disease, with an emphasis on recent fields of investigation.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"24"},"PeriodicalIF":2.7,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristics of Cognitive Event-Related Potential Components and N170 Source Analysis in Patients with Acute Cerebellar Infarction.","authors":"Qirong Ling, Xiaodong Yuan, Ya Ou, Jing Wang, Liqin Duan, Lingyun Cao, Pingshu Zhang","doi":"10.1007/s12311-024-01776-w","DOIUrl":"10.1007/s12311-024-01776-w","url":null,"abstract":"<p><p>This study aims to evaluate cognitive impairments in patients with acute cerebellar infarction using event-related potentials (ERP) and electrophysiological source imaging (ESI). Thirty patients with acute cerebellar infarction and 32 healthy volunteers were selected. Cognitive potentials were recorded and measured using a visual Oddball paradigm. Source analysis of the N170 component was performed using standardized low-resolution brain electromagnetic tomography (sLORETA) to compare the standardized current density distribution between the two groups under different stimuli. For inverted and upright face stimuli, the amplitudes of N170, VPP, and N300 in the patient group were significantly lower than those in the control group (p < 0.05). For upright house stimuli, the VPP amplitude in the patient group was also lower than that in the control group (p < 0.05). Source analysis revealed that the brain regions with significant differences between the acute cerebellar infarction group and the control group included the temporal and parietal lobes. Specifically, activation in the precuneus was reduced during inverted face stimuli; activation in the middle temporal gyrus was reduced during upright face stimuli; and activation in the middle temporal gyrus and fusiform gyrus was increased during both inverted and upright house stimuli. Patients with acute cerebellar infarction exhibit abnormal P100, N170/VPP, and N300 amplitudes. Source analysis of the N170 component revealed altered activation in the middle and inferior temporal gyri, fusiform gyrus, middle occipital gyrus, and precuneus, which play a role in selective cognitive impairments following cerebellar infarction.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 1","pages":"23"},"PeriodicalIF":2.7,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142923799","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}