Cerebellum最新文献_第3页

Trauma-Induced Cerebellar Edema: A Rare Presentation of Infratentorial Developmental Venous Anomaly in a Pediatric Patient. 外伤性小脑水肿：一种罕见的儿童幕下发育性静脉异常的表现。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-05-19 DOI: 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":"10.1007/s12311-025-01852-9","url":null,"abstract":"Introduction: 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.Case report: 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.Conclusion: 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.","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}

引用次数: 0

Alterations in the Na⁺/H⁺ Exchanger NHE6 and Glutamate Transporters may Influence Purkinje Cell Fate in ARSACS. Na+/H+交换体NHE6和谷氨酸转运体的改变可能影响ARSACS中浦肯野细胞的命运。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-05-15 DOI: 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+/H+ 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":"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-/-), we found a significant decrease in the Na+/H+ 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.","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}

引用次数: 0

Respiratory Evaluation in Spinocerebellar ataxia Type 2. 2型脊髓小脑性共济失调的呼吸评价。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-05-13 DOI: 10.1007/s12311-025-01845-8

Celiana Figueiredo Viana, Cristina Saade Jaques, Marcio Luiz Escorcio-Bezerra, José Luiz Pedroso, Orlando Graziani Povoas Barsottini

{"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":"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 (FEV1), 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.","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}

引用次数: 0

Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome can Lead to Long-Term Neurological, Neuropsychological, and Cognitive Sequelae Associated with Cerebellar Atrophy. 小儿眼阵挛-肌阵挛-共济失调综合征可导致与小脑萎缩相关的长期神经学、神经心理学和认知后遗症。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-05-09 DOI: 10.1007/s12311-025-01846-7

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

{"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":"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.","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}

引用次数: 0

Transient Response to Liberation Maneuvers in Central Positional Nystagmus Due to Cerebral Metastases Mimicking Benign Paroxysmal Positional Vertigo- A Case Report. 脑转移诱发良性阵发性位置性眩晕引起的中枢性眼震释放动作的短暂反应- 1例报告。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-05-09 DOI: 10.1007/s12311-025-01851-w

Maritta Spiegelberg, Joao Lemos, Sun-Uk Lee, Jeong-Yoon Choi, Alexander Andrea Tarnutzer

{"title":"Transient Response to Liberation Maneuvers in Central Positional Nystagmus Due to Cerebral Metastases Mimicking Benign Paroxysmal Positional Vertigo- A Case Report.","authors":"Maritta Spiegelberg, Joao Lemos, Sun-Uk Lee, Jeong-Yoon Choi, Alexander Andrea Tarnutzer","doi":"10.1007/s12311-025-01851-w","DOIUrl":"https://doi.org/10.1007/s12311-025-01851-w","url":null,"abstract":"Background: Benign paroxysmal positional vertigo (BPPV) is by far the most frequent cause of positional nystagmus (PN). However, PN may also be encountered in central lesions. In this case report we describe a patient with isolated positional vertigo and central PN which mimicked a lateral-canal cupulithiasis, including initial response to liberation maneuvers.Case description: A 44-year-old male patient reported new-onset position-dependent vertigo with nausea and gait-imbalance for 10 days. During supine roll testing for the lateral semicircular canals, he showed a persistent apogeotropic PN (being more intense left-ear-down) accompanied by moderate vertigo. Except for the PN, the neurologic examination was normal. He received a diagnosis of a apogeotropic-variant right-lateral canal BPPV and responded well to a Gufoni maneuver (nose-up). However, on follow-up, apogeotropic PN showed-up again, converted into a geotropic variant after a Barbecue-liberation maneuver, and then disappeared. Due to the re-emergence of the initial PN on the second follow-up consult, a brain-MRI was requested, disclosing disseminated infra- and supratentorial cystic brain metastases. The largest mass compressed midline cerebellar structures. Urgent surgical resection revealed a histopathologic diagnosis of an adeno-carcinoma of the lung.Discussion: Short-lasting responses to liberation maneuvers may also be seen in CPN, mimicking the response-pattern expected in BPPV cases. Thus, response to treatment must be validated on a follow-up consultation. Pressure by a cystic cerebellar mass lesion on the nodulus and uvula that varies with changing head-position relative to gravity, resulting in adaptational changes in PN direction and intensity could explain our findings.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"96"},"PeriodicalIF":2.7,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12064596/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038852","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}

引用次数: 0

Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 2: Mobility, Balance, and Lower Limb Coordination. ARSACS试验准备的临床结果评估选择- 2年进展和对变化的反应性。第2部分：活动能力、平衡和下肢协调。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-05-07 DOI: 10.1007/s12311-025-01849-4

Isabelle Lessard, Elise Duchesne, Luc J Hébert, Bernard Brais, Xavier Rodrigue, François Routhier, Krista Best, Jean-Denis Brisson, Florentin Thullier, Sébastien Gaboury, Isabelle Côté, Cynthia Gagnon

{"title":"Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 2: Mobility, Balance, and Lower Limb Coordination.","authors":"Isabelle Lessard, Elise Duchesne, Luc J Hébert, Bernard Brais, Xavier Rodrigue, François Routhier, Krista Best, Jean-Denis Brisson, Florentin Thullier, Sébastien Gaboury, Isabelle Côté, Cynthia Gagnon","doi":"10.1007/s12311-025-01849-4","DOIUrl":"https://doi.org/10.1007/s12311-025-01849-4","url":null,"abstract":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is among the most prevalent types of recessive ataxia worldwide. Given the accelerated therapeutic advances for many ataxias, there is a need to improve trial readiness. This study aimed to document the progression of balance, lower limb coordination and mobility in adults with ARSACS according to their mobility stage (walker or not) over the trial-relevant time frame of two years, and responsiveness to change of related clinical outcome assessments (COAs). Sixty participants from two neuromuscular clinics (Saguenay and Québec City, Canada) were included. The COAs were the Lower Extremity Motor Coordination Test (LEMOCOT), Co-contraction index, 30-s Chair Stand test (30 s-CST), Timed Up & Go test (TUG), 10-Meter Walk Test (10mWT), Berg Balance Scale (BBS), and Activities-specific Balance Confidence-simplified (ABC-S) scale. Responsiveness was documented using an anchor-based method with self-perception of the progression of related COA outcomes in the previous year. A significant progression above the standard error of measurement was observed for the TUG (+ 7.8 s [24% compared with baseline]), 10mWT (-0.111 to-0.165 m/s [-17 to -20%]), BBS (-4.3 points [-24%]), and ABC-S (-4.3 points [-15%]), with some differences between mobility stages; participants using a walking aid or wheelchair showed greater progression. The TUG, 10mWT, and BBS were the most sensitive to change in COAs, detecting changes specifically in participants who reported getting worse. These results are pivotal for defining inclusion criteria and selecting COAs for future clinical trials.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"95"},"PeriodicalIF":2.7,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144055929","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}

引用次数: 0

The Cerebellar Neuropsychiatric Rating Scale in the Spinocerebellar Ataxias. 脊髓小脑共济失调的小脑神经精神评定量表。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-05-05 DOI: 10.1007/s12311-025-01840-z

Anna L Burt, Maureen P Daly, Janet C Sherman, Jeremy D Schmahmann

{"title":"The Cerebellar Neuropsychiatric Rating Scale in the Spinocerebellar Ataxias.","authors":"Anna L Burt, Maureen P Daly, Janet C Sherman, Jeremy D Schmahmann","doi":"10.1007/s12311-025-01840-z","DOIUrl":"https://doi.org/10.1007/s12311-025-01840-z","url":null,"abstract":"There is currently no established screening instrument that detects neuropsychiatric features in individuals with cerebellar ataxia. We hypothesized that the Cerebellar Neuropsychiatric Rating Scale (CNRS) would capture the neuropsychiatry of patients enrolled in the natural history study of the Clinical Research Consortium for the Study of Cerebellar Ataxia, and provide novel insights not revealed by other measures. We studied CNRS data in 362 patients with spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, 10, and 27B, and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We grouped patients by mild, moderate, and severe disease severity according to Friedreich Ataxia Rating Scale (FARS) functional stage. We analyzed scores on the CNRS and its five constituent domains for the entire cohort and by severity subgroup. We fit a mixed effects model to examine the effect of severity. We analyzed correlations with other clinical measures: Cerebellar Cognitive Affective / Schmahmann Syndrome Scale (CCAS-S), Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia), Patient Health Questionnaire-9 (PHQ-9), Euro-Qol 5-Dimension (EQ-5D), and Fatigue Severity Scale (FSS). The CNRS detected neuropsychiatric symptoms, with highest scores on Attentional and Emotional Control domains. The mixed effects model revealed that ataxia severity influences scores, with mean scores increasing with ataxia severity. The CNRS correlated with the PROM-Ataxia Mental domain, particularly between Emotional Control and section 1 (psychiatric) items. Emotional Control also correlated with PHQ-9 and EQ-5D. Correlations with the CCAS-S Affect and FSS were weak. The CNRS provides novel neuropsychiatric insights into spinocerebellar ataxia that are missed by other measures.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"94"},"PeriodicalIF":2.7,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993243","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}

引用次数: 0

Terra Incognita - Contributions of the Olivo-Cerebellar System to Autism Spectrum Disorder. 未知领域：大脑-小脑系统对自闭症谱系障碍的贡献。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-05-02 DOI: 10.1007/s12311-025-01843-w

Pranav Shibu, Daniel Ra, Jemima Elise Robins, Samuel Joseph, Sheeba Anteraper

{"title":"Terra Incognita - Contributions of the Olivo-Cerebellar System to Autism Spectrum Disorder.","authors":"Pranav Shibu, Daniel Ra, Jemima Elise Robins, Samuel Joseph, Sheeba Anteraper","doi":"10.1007/s12311-025-01843-w","DOIUrl":"https://doi.org/10.1007/s12311-025-01843-w","url":null,"abstract":"The inferior olivary nuclei (ION), a key component of the olivo-cerebellar system, remain understudied in autism spectrum disorder (ASD) research despite evident cerebellar involvement. This perspective piece aims to elucidate the critical role of the ION in cerebellar microcircuitry and its potential implications in ASD pathophysiology. We review the olivo- cerebellar system and the structural and functional alterations of the ION in autism, highlighting findings from neuroanatomical, neuroimaging, and behavioral studies. ION disruptions, although underexplored, may have a major role in the symptomatology of ASD, particularly higher-order cognitive abilities, rapid stimuli processing, and motor coordination. Specifically, we highlight how anomalies in olivary neuron morphology and olivo-cerebellar connectivity patterns may underlie deficits in temporal processing and motor learning observed in ASD. Furthermore, we discuss the challenges in brainstem imaging and recent advancements in ultra-high field (UHF) 7 T MRI technology, as standard neuroimaging techniques. As these neuroimaging techniques continue to evolve, further investigation of the functional territories of the ION holds promise for providing essential understandings into ASD processes and may lead to pioneering therapeutic options targeting this crucial brainstem area.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"93"},"PeriodicalIF":2.7,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144042778","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}

引用次数: 0

The Nuclear Transitory Zone: A Key Player in the Cerebellar Development. 核过渡区：小脑发育的关键角色。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-05-02 DOI: 10.1007/s12311-025-01848-5

Farshid Ghiyamihoor, Azam Asemi Rad, Hassan Marzban

{"title":"The Nuclear Transitory Zone: A Key Player in the Cerebellar Development.","authors":"Farshid Ghiyamihoor, Azam Asemi Rad, Hassan Marzban","doi":"10.1007/s12311-025-01848-5","DOIUrl":"https://doi.org/10.1007/s12311-025-01848-5","url":null,"abstract":"The nuclear transitory zone (NTZ), while crucial during cerebellar development, has remained elusive due to its transient nature and the technical limitations in observing this dynamic structure in vivo. Traditionally considered an assembly point for immature neurons of the prospective cerebellar nuclei, recent studies highlight the NTZ's rich cellular and molecular heterogeneity in the early-developing region at the rostral end of the cerebellar primordium. While much is known about its molecular diversity, the precise functional role of NTZ in cerebellar development remains unclear. This review synthesizes current knowledge of the NTZ, focusing on its developmental origin, cellular and molecular composition, and potential role in regulating cerebellar development. We explore studies primarily conducted in mice, exploring the NTZ development from the rhombic lip, the ventricular zone, and possibly the mesencephalon. Special attention is given to molecules such as TLX3, Contactin-1 (CNTN1), OLIG2, Reelin (RELN), LMX1A, and TBR2, which are prominently expressed in the NTZ during early cerebellar development. Evidence suggests that the NTZ is more than just a neuronal assembly site; its molecular markers and gene expression profile indicate a role in circuit formation and regulation within the cerebellar primordium. We suggest that the NTZ may contribute to early cerebellar circuit formation, potentially acting as a regulator or organizer of cerebellar development. However, caution is necessary in attributing developmental roles solely based on gene expression patterns. Future studies should focus on the functional consequences of gene expression in the NTZ and its interactions with developing cerebellar circuits.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"92"},"PeriodicalIF":2.7,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144042371","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}

引用次数: 0

Current and future applications of brain magnetic resonance imaging in ARSACS. 脑磁共振成像在ARSACS中的应用现状与未来。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-04-30 DOI: 10.1007/s12311-025-01842-x

Alessandra Scaravilli, Davide Negroni, Claudio Senatore, Filippo Maria Santorelli, Sirio Cocozza

{"title":"Current and future applications of brain magnetic resonance imaging in ARSACS.","authors":"Alessandra Scaravilli, Davide Negroni, Claudio Senatore, Filippo Maria Santorelli, Sirio Cocozza","doi":"10.1007/s12311-025-01842-x","DOIUrl":"https://doi.org/10.1007/s12311-025-01842-x","url":null,"abstract":"Magnetic Resonance Imaging (MRI) is a tool with an unquestionable role in the study of neurodegenerative disorders, both for diagnostic purposes and for its ability of providing imaging-derived biomarkers with a growing central role as reliable outcomes in clinical trials. This is even more relevant when dealing with rare disorders such as the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), in which the search of diagnostic and prognostic biomarker is crucial. Due to the rarity of this condition, a comprehensive knowledge of MRI signs observed in ARSACS is lacking. Furthermore, many domains remain still unexplored in ARSACS, especially with reference to the application of advanced imaging techniques that could shed light on the pathophysiological mechanisms of brain damage in this disorder. In this review, after a brief introduction on the major conventional and advanced MRI techniques that can used for diagnostic and research purposes, we present current neuroradiological knowledge in ARSACS. Having discussed strength and weak points of conventional and advanced imaging findings, we also suggest possible future research in this neurologically complex clinical condition.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 4","pages":"91"},"PeriodicalIF":2.7,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12043731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052295","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}

引用次数: 0