CerebellumPub Date : 2025-09-16DOI: 10.1007/s12311-025-01900-4
Shujun Su, Qin Zhou, Xuemei Chen, Bailing Qin, Yuting Sun, Lu Qin, Chuan Yong Qu, Jinou Zheng
{"title":"Changes in Cerebellar Functional Gradients and Molecular Genetic Mechanisms in Patients with Temporal Lobe Epilepsy: a cross-sectional and Longitudinal Functional Magnetic Resonance Imaging Study.","authors":"Shujun Su, Qin Zhou, Xuemei Chen, Bailing Qin, Yuting Sun, Lu Qin, Chuan Yong Qu, Jinou Zheng","doi":"10.1007/s12311-025-01900-4","DOIUrl":"10.1007/s12311-025-01900-4","url":null,"abstract":"<p><p>To investigate the characteristics of cross-sectional and longitudinal changes in cerebellar functional gradients in patients with temporal lobe epilepsy (TLE) and to explore the underlying molecular genetic mechanisms.This study included both cross-sectional and longitudinal phases. The cross-sectional study included 115 TLE patients and 75 healthy controls (HCs) and analyzed the cerebellar functional connectivity gradient using resting-state functional magnetic resonance imaging (rs-fMRI); the longitudinal study followed 29 TLE patients and 29 HCs and assessed the changes in the cerebellar functional connectivity gradient over a four-year period (44.24 ± 16.64 months). Gene expression data from the Allen Human Brain Atlas were used to analyze the association of differences in gradient changes with gene expression. (1) Both TLE patients and HCs showed typical functional cerebellar gradient patterns. (2) Cross-sectional analyses revealed that TLE patients had a contracted range of main cerebellar gradients and significantly higher gradient values in the default mode network (DMN). (3) Longitudinal analyses showed that cerebellar DMN gradients were initially abnormal in TLE patients at baseline(BL); with disease progression, the DMN stabilized. (4) 151 genes associated with gradient differences were identified, and GO enrichment analysis mainly involved endocytosis, synaptic structure, metabolism, and ion channels. Protein interaction network analysis identified WASF1, RAC1 and MTG1 as key hub genes. This study provides initial evidence of dynamic changes in cerebellar functional gradients and their potential molecular correlates in TLE patients for the first time by functional magnetic resonance imaging gradient analysis, providing a new perspective for understanding the neuroplasticity of TLE.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"155"},"PeriodicalIF":2.4,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145071072","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 : 2025-09-16DOI: 10.1007/s12311-025-01901-3
Siddharth Patel, Brandon Oubre, Christopher D Stephen, Jeremy D Schmahmann, Anoopum S Gupta
{"title":"Submovements Derived from Wearable Sensors Capture Ataxia Severity and Differ Across Motor Tasks and Directions of Motion.","authors":"Siddharth Patel, Brandon Oubre, Christopher D Stephen, Jeremy D Schmahmann, Anoopum S Gupta","doi":"10.1007/s12311-025-01901-3","DOIUrl":"10.1007/s12311-025-01901-3","url":null,"abstract":"<p><p>Digital measures derived from wearable sensors are a promising approach for assessing motor impairment in clinical trials. Submovements, which are velocity curves extracted from time series data, have been successful in characterizing impaired movement during specific motor tasks as well as from natural behavior. In this study, we evaluate the influence of different limb movements on submovement kinematic properties. Individuals with ataxia (n = 70) and healthy controls (n = 27) wore inertial sensors on their wrists and ankles and performed five neurologically-relevant tasks-finger-nose, fast alternating hand movements (AHM), finger-chase, heel-stomping, and heel-shin. A common framework was applied to extract submovements from each task and eight submovement kinematic features were analyzed. Though submovement kinematic properties changed in response to disease severity, they were primarily influenced by motor task and direction of motion. Modeling experiments revealed that accounting for task and direction of motion improved estimation of ataxia severity; the best performing model accurately estimated clinician-administered ataxia ratings (r = 0.82, 95%CI: 0.77-0.86), and found the finger-chase task to be most informative of severity. Although there were differences across tasks, in general, individuals with ataxia had submovements with lower peak accelerations and more variable kinematics. Relationships between ataxia severity and submovement durations, distances, and peak velocities were more task dependent. These results demonstrate that a common submovement analysis approach can be used to estimate ataxia severity across a wide range of motor tasks and that estimation of severity can be improved by accounting for movement type and direction of motion.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"156"},"PeriodicalIF":2.4,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12516923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145071067","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 : 2025-09-13DOI: 10.1007/s12311-025-01908-w
Alex Tiburtino Meira, Thiago Cardoso Vale, Sophia C G da Costa, Claudie Gauvreau, Camila Callegari Piccinin, Hélio A G Teive, Marcondes C França, Nicolas Dupré, Orlando G Barsottini, José Luiz Pedroso
{"title":"Neuroimaging in Cerebellar Ataxias: A Diagnostic Approach.","authors":"Alex Tiburtino Meira, Thiago Cardoso Vale, Sophia C G da Costa, Claudie Gauvreau, Camila Callegari Piccinin, Hélio A G Teive, Marcondes C França, Nicolas Dupré, Orlando G Barsottini, José Luiz Pedroso","doi":"10.1007/s12311-025-01908-w","DOIUrl":"10.1007/s12311-025-01908-w","url":null,"abstract":"<p><p>Ataxias are a group of neurologic disorders, with heterogeneous clinical and genetic presentation and with a challenging diagnostic approach that navigates through the neuroimage field. Typical clinical features of ataxias include variable degrees of cerebellar ataxia, as a pure clinical picture or associated with other neurologic or extra neurological symptoms (cognitive impairment, epilepsy, other movement disorders, abnormal ocular movements, systemic symptoms). Neuroimaging plays an important role in the characterization of patients with ataxia. Despite the development of genetics and neuroimaging, some cases remain with no diagnosis. This review proposes a didactic investigation approach for ataxias based on three main magnetic resonance imaging features: a) ataxias without cerebellar atrophy; b) ataxias with pure cerebellar atrophy or olivopontocerebellar atrophy; and c) ataxias with specific imaging features. A comprehensive review of peer-reviewed articles on neuroimaging in diseases associated with cerebellar ataxia was conducted through a search in PubMed and SciELO. For each topic, we discuss the possible diagnosis and suggest a guided investigation. The classification of cerebellar ataxias into distinct categories-based on the presence or absence of cerebellar atrophy and specific neuroradiological features-profoundly enhances the diagnostic approach to these complex disorders.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"154"},"PeriodicalIF":2.4,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145056139","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 : 2025-09-10DOI: 10.1007/s12311-025-01902-2
Xuan Wang, Jin-Ting Yu, Ling-Ling Wang, Jia Huang, Yi Wang, Simon S Y Lui, Raymond C K Chan
{"title":"Cerebellar Stimulation Modulates Reward Processing: A High-definition Transcranial Direct Current Stimulation Study.","authors":"Xuan Wang, Jin-Ting Yu, Ling-Ling Wang, Jia Huang, Yi Wang, Simon S Y Lui, Raymond C K Chan","doi":"10.1007/s12311-025-01902-2","DOIUrl":"10.1007/s12311-025-01902-2","url":null,"abstract":"<p><p>Reward processing involves several components, including reward anticipation, cost-effort computation, reward consumption, reward sensitivity, and reward learning. Recent research has highlighted the cerebellum's role in reward processing. This study aimed to investigate the effects of cerebellar stimulation on reward processing using high-definition transcranial direct current stimulation (HD-tDCS). In this single-blind, randomized, sham-controlled study, 63 healthy adults received either active (N = 31) or sham (N = 32) 1.7 mA HD-tDCS targeting the right posterior cerebellum for 20 minutes. Reward processing was assessed before and after stimulation using the Monetary Incentive Delay (MID) Task, the Effort-Expenditure for Rewards (EEfRT-Adaptive) Task, and the Probabilistic Stimulus Selection Task (PST). Results showed that the active stimulation group preserved anticipatory and consummatory pleasure in response to high rewards in the MID task, whereas the sham group exhibited a decline in these measures from pre-test to post-test. The active stimulation group had enhanced reward sensitivity in the EEfRT-adaptive task. HD-tDCS appeared to influence the reward learning rate in the PST, although this effect was moderated by participants' emotional state. Our study provides preliminary evidence that HD-tDCS targeting the cerebellum can effectively modulate multiple facets of reward processing. Cerebellar stimulation may have therapeutic potential for psychiatric patients with impaired reward processing.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"153"},"PeriodicalIF":2.4,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031197","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":"Trends in Invasive Interventions and Risk Factors for Early Critical Events in Multiple System Atrophy.","authors":"Monami Tarisawa, Masaaki Matsushima, Akihiko Kudo, Taichi Nomura, Hisashi Uwatoko, Shinichi Shirai, Ikuko Takahashi-Iwata, Ken Sakushima, Hiroaki Yaguchi, Isao Yokota, Naoki Nishimoto, Jun Sawada, Takeshi Matsuoka, Haruo Uesugi, Naoya Minami, Kazuya Sako, Asako Takei, Shin Hisahara, Yasuhiro Kanatani, Akiko Tamakoshi, Norihiro Sato, Ichiro Yabe","doi":"10.1007/s12311-025-01905-z","DOIUrl":"10.1007/s12311-025-01905-z","url":null,"abstract":"<p><p>Multiple system atrophy (MSA) is a progressive, adult-onset neurodegenerative disorder involving autonomic failure, cerebellar ataxia, and parkinsonism. Patients often require invasive interventions, such as gastrostomy or tracheostomy, and sudden death is common. This study aimed to elucidate patterns of invasive treatment and identify risk factors for tracheostomy or sudden death within 5 years of onset. In total, 214 patients diagnosed with MSA between November 2014 and October 2024 across 66 institutions in Hokkaido were enrolled in the Hokkaido Rare Disease Consortium for MSA (HoRC-MSA). Patients were grouped by clinical course and interventions. We analyzed use of invasive procedures, including enteral nutrition via gastrostomy, enterostomy, esophagostomy, nasogastric tube insertion, central venous nutrition, tracheostomy, and ventilator support. Multivariable analyses were performed to compare patients with and without early critical events, defined as tracheostomy or sudden death within 5 years of disease onset. Invasive procedures were performed in 63.1% of patients. Patients receiving enteral nutrition and tracheostomy had prolonged survival. Early events correlated with older onset age (mean, 65.9 years), orthostatic hypotension, stridor, and an elevated apnea-hypopnea index (median, 32.45). Patients with preserved activities of daily living (ADL) in the Unified MSA Rating Scale part Ⅳ also had an increased risk of early critical events. Autonomic dysfunction, sleep-disordered breathing, and vocal cord impairment predict key risk factors for early mortality in patients with MSA. Monitoring is necessary, regardless of preserved ADL. The impact of invasive interventions on quality of life should be further explored.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"152"},"PeriodicalIF":2.4,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145006716","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 : 2025-09-04DOI: 10.1007/s12311-025-01899-8
Kyota Bando, Yuki Kondo, Yosuke Ariake, Taro Kato, Mari S Oba, Takatoshi Hara, Yuji Takahashi
{"title":"Long-Term Effects of Annual Intensive Rehabilitation in Patients with Hereditary Pure Cerebellar Ataxia: A 7-year Follow-up Study.","authors":"Kyota Bando, Yuki Kondo, Yosuke Ariake, Taro Kato, Mari S Oba, Takatoshi Hara, Yuji Takahashi","doi":"10.1007/s12311-025-01899-8","DOIUrl":"10.1007/s12311-025-01899-8","url":null,"abstract":"<p><p>Although intensive rehabilitation has achieved short-term benefits in patients with spinocerebellar degeneration, long-term outcomes of periodic intervention remain unclear, particularly in patients with pure spinocerebellar ataxia types 6 (SCA6) and 31 (SCA31). To investigate the longitudinal effects of annual intensive rehabilitation on ataxic symptoms and balance function in patients with pure cerebellar type SCA6 and SCA31. Seven patients with genetically confirmed SCA6 or SCA31 participated in annual 4-week intensive rehabilitation programmes. Each programme consisted of daily physical therapy, occupational/speech therapy, and self-directed balance training. The participants were assessed annually at pre-intervention, post-intervention, and the 6-month follow-up using the Scale for the Assessment and Rating of Ataxia (SARA) and Balance Evaluation Systems Test (BESTest). Changes were analysed using linear mixed-effect models. SARA scores were stable, indicating slower progression than the expected natural history, through year 6, with significant improvement observed post-intervention in year 2 (p = 0.04). Significant deterioration occurred at year 7 based on pre-intervention scores (p = 0.01), suggesting prolonged sustained benefits for coordination. The BESTest scores revealed an earlier decline, with significant deterioration from year 3 (p = 0.04), which progressed until year 7 (p < 0.01). Annual intensive rehabilitation effectively slowed the progression of ataxic symptoms (SARA) for up to six years, while balance function (BESTest) showed a significant decline from the third year. These findings indicate that an annual rehabilitation schedule is valuable for maintaining coordination but may be insufficient to prevent the progressive decline of balance function in patients with pure cerebellar ataxia.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"150"},"PeriodicalIF":2.4,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12411578/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144994392","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 : 2025-09-04DOI: 10.1007/s12311-025-01906-y
Leonardo Eleuterio Ariello, Daniel R Gold, Weiyi Mu, Michael C Schubert, Claire Allen, Ashley Paul, David P W Rastall
{"title":"Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework.","authors":"Leonardo Eleuterio Ariello, Daniel R Gold, Weiyi Mu, Michael C Schubert, Claire Allen, Ashley Paul, David P W Rastall","doi":"10.1007/s12311-025-01906-y","DOIUrl":"10.1007/s12311-025-01906-y","url":null,"abstract":"<p><p>Spinocerebellar ataxia type 27B (SCA27B), caused by GAA repeat expansions in FGF14, is an increasingly recognized form of late-onset cerebellar ataxia. However, early diagnosis remains challenging due to mild or absent cerebellar motor signs and often normal brain magnetic resonance imaging (MRI). Oculovestibular abnormalities, although prevalent, are frequently overlooked and not captured by standard clinical scales such as the Scale for the Assessment and Rating of Ataxia (SARA). This study aimed to perform a detailed and dedicated evaluation of vestibulo-ocular function in patients with SCA27B, and to develop a practical diagnostic framework that highlights the most prevalent findings and their anatomical correlates. We retrospectively analyzed 20 patients with genetically confirmed SCA27B who underwent structured bedside and quantitative neuro-visual assessments, including video-oculography (VOG) and video head impulse testing (vHIT). As a comparison group, we included patients with genetically confirmed SCA1, SCA2, SCA3, SCA6, and SCA8, who had undergone the same VOG protocol at our center. All SCA27B patients exhibited cerebellar ocular motor abnormalities, including downbeat, gaze-evoked, and rebound nystagmus. Compared to other SCAs, spontaneous and positional downbeat nystagmus was significantly more frequent in SCA27B (p < 0.001), whereas gaze-evoked and rebound nystagmus and impaired smooth pursuit occurred at similar rates, particularly in SCA6, which showed a partially overlapping profile. Quantitative vHIT revealed bilateral vestibular hypofunction, with lower vestibular-ocular reflex (VOR) gain most pronounced in the posterior canals (mean VOR gain: 0.44), followed by anterior (0.54) and horizontal canals (0.83; p < 0.001). Brain MRI was normal in two-thirds of patients, and SARA scores indicated only mild ataxia, underscoring the diagnostic limitations of conventional tools. Our results emphasize the value of oculovestibular evaluation as a sensitive disease marker and support its integration into future composite diagnostic scales for cerebellar ataxias.Trial Registration Information: Not applicable (retrospective study).</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"149"},"PeriodicalIF":2.4,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144994389","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 : 2025-09-04DOI: 10.1007/s12311-025-01903-1
Jorge C Kattah, Kavya Moravineni, Eric Eggenberger, Cody Eggenberger, Aasef G Shaikh, Rodger J Elble
{"title":"Multifaceted Mesodiencephalic Triangles: Insights into Hypertrophic Olivary Degeneration and Oculopalatal Tremor Pathophysiology.","authors":"Jorge C Kattah, Kavya Moravineni, Eric Eggenberger, Cody Eggenberger, Aasef G Shaikh, Rodger J Elble","doi":"10.1007/s12311-025-01903-1","DOIUrl":"10.1007/s12311-025-01903-1","url":null,"abstract":"<p><p>Oculopalatal tremor is a rare neurological disorder characterized by rhythmic oscillations of ocular and palatal muscles. This phenomenon is commonly associated with hypertrophic degeneration of the inferior olive due to loss of GABAergic cerebello-olivary fibers. Oculopalatal tremor highlights the complex interplay between cerebellar, mesodiencephalic, and olivary networks. The principal, medial accessory, and dorsal accessory subnuclei of the inferior olive exhibit rhythmic subthreshold oscillations that are hypothesized to play an important role in oculopalatal tremor. However, delayed tremor onset and variability in hypertrophic olivary degeneration challenge the hypothesis of olivary oscillation as the principal cause of tremorogenesis. A plausible alternative hypothesis is that tremorogenic oscillation emerges from maladaptive cerebellar network plasticity in response to the loss of physiologic climbing fiber activity. The anatomy and physiology of the fastigiobulbar connections are compatible with the clinical characteristics of oculopalatal tremor syndrome, and clinicopathological correlations suggest that the fastigiobulbar pathway is necessary for oculopalatal tremor. Latent brainstem oscillators, released by cerebellar dysfunction, have been proposed but do not explain the anatomical distribution of oscillation. Advanced imaging and computational models have provided insights into possible mechanisms of oscillation but underscore the need for further studies, particularly in a suitable animal model, which does not exist.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"151"},"PeriodicalIF":2.4,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12411318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144994449","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 : 2025-09-03DOI: 10.1007/s12311-025-01907-x
Fabiana Colucci, Sara Stefanelli, Elena Contaldi, Andrea Gozzi, Maura Pugliatti, Pietro Antenucci, Jay Guido Capone, Daniela Gragnaniello, Mariachiara Sensi
{"title":"Correction to: Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression.","authors":"Fabiana Colucci, Sara Stefanelli, Elena Contaldi, Andrea Gozzi, Maura Pugliatti, Pietro Antenucci, Jay Guido Capone, Daniela Gragnaniello, Mariachiara Sensi","doi":"10.1007/s12311-025-01907-x","DOIUrl":"10.1007/s12311-025-01907-x","url":null,"abstract":"","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"147"},"PeriodicalIF":2.4,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12405345/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977321","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 : 2025-09-03DOI: 10.1007/s12311-025-01904-0
Diana Vieira Brito, Marcus Vinicius Della Coletta, Giselle Benevides Monteiro Ferreira, Sabrina Rodrigues da Silva, Patricia Batista de Azevedo, Cleiton Fantin
{"title":"The Case of Spinocerebellar Ataxias in Amazonas (Northern Brazil): An Analysis of Disease Frequency from a Geographic, Historical, and Genetic-Evolutionary Perspective.","authors":"Diana Vieira Brito, Marcus Vinicius Della Coletta, Giselle Benevides Monteiro Ferreira, Sabrina Rodrigues da Silva, Patricia Batista de Azevedo, Cleiton Fantin","doi":"10.1007/s12311-025-01904-0","DOIUrl":"10.1007/s12311-025-01904-0","url":null,"abstract":"<p><p>The Spinocerebellar Ataxias (SCAs) are a group of hereditary neurodegenerative diseases that show a variable distribution among distinct ethnicities and geographic regions. In Brazil, a large and highly admixed country, the prevalence of SCAs has been investigated mostly in limited areas. Here we characterized the frequencies of SCA types in the state of Amazonas, as well as the geographic origin of SCA families, and compared them to the literature data available about the frequency of SCAs in other Brazilian regions. Patients were recruited at two referral centers for ataxias at Manaus/Amazonas. An active search of patients based on the local medical records and contacts from other institutions was also performed. The participants were genetically tested for expansions at ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 and ATXN10. Overall, the number of positive SCA cases was low in this population (N = 18). Also, the most frequent type among SCA families was SCA2 (30%), followed by SCA3 (15%), SCA7 (15%) and SCA10 (one case). These results contrast with those of other Brazilian populations, where SCA3 is predominant over the other types, comprising more than 50% of cases. We concluded that the geographic isolation and the unique population history of Amazonas, including strong Amerindian ancestry and recent demographic growth, have led to a higher frequency of an SCA with multiple mutation origins (SCA2) instead of a SCA spread by European migration of ancestral mutations (SCA3). We suggest that considering these factors is crucial for a better understanding of the epidemiology of hereditary diseases.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 5","pages":"148"},"PeriodicalIF":2.4,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977379","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}