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Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms. 脊髓小脑性共济失调:多Q与非重复扩展型的表型谱。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-07-24 DOI: 10.1007/s12311-024-01723-9
João Moura, Jorge Oliveira, Mariana Santos, Sara Costa, Lénia Silva, Carolina Lemos, José Barros, Jorge Sequeiros, Joana Damásio
{"title":"Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms.","authors":"João Moura, Jorge Oliveira, Mariana Santos, Sara Costa, Lénia Silva, Carolina Lemos, José Barros, Jorge Sequeiros, Joana Damásio","doi":"10.1007/s12311-024-01723-9","DOIUrl":"10.1007/s12311-024-01723-9","url":null,"abstract":"<p><p>Spinocerebellar ataxias (SCA) are most frequently due to (CAG)<sub>n</sub> (coding for polyglutamine, polyQ) expansions and, less so, to expansion of other oligonucleotide repeats (non-polyQ) or other type of variants (non-repeat expansion SCA). In this study we compared polyQ and non-repeat expansion SCA, in a cohort of patients with hereditary ataxia followed at a tertiary hospital. From a prospective study, 88 patients (51 families) with SCA were selected, 74 (40 families) of whom genetically diagnosed. Thirty-eight patients (51.4%, 19 families) were confirmed as having a polyQ (no other repeat-expansions were identified) and 36 (48.6%, 21 families) a non-repeat expansion SCA. Median age-at-onset was 39.5 [30.0-45.5] for polyQ and 7.0 years [1.00-21.50] for non-repeat expansion SCA. PolyQ SCA were associated with cerebellar onset, and non-repeat expansion forms with non-cerebellar onset. Time to diagnosis was longer for non-repeat expansion SCA. The most common polyQ SCA were Machado-Joseph disease (MJD/SCA3) (73.7%) and SCA2 (15.8%); whereas in non-repeat expansion SCA ATX-CACNA1A (14.3%), ATP1A3-related ataxia, ATX-ITPR1, ATX/HSP-KCNA2, and ATX-PRKCG (9.5% each) predominated. Disease duration (up to inclusion) was significantly higher in non-repeat expansion SCA, but the difference in SARA score was not statistically significant. Cerebellar peduncles and pons atrophy were more common in polyQ ataxias, as was axonal neuropathy. SCA had a wide range of genetic etiology, age-at-onset and presentation. Proportion of polyQ and non-repeat expansion SCA was similar; the latter had a higher genetic heterogeneity. While polyQ ataxias were typically linked to cerebellar onset in adulthood, non-repeat expansion forms associated with early onset and non-cerebellar presentations.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2258-2268"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11585503/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141762357","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
COVID-19-Associated Cerebellitis: A Case Report and Rehabilitation Outcome. COVID-19 相关性小脑炎:病例报告与康复结果
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-07-15 DOI: 10.1007/s12311-024-01721-x
Roberto Tedeschi, Vincenza Amoruso, Valentina Boetto, Davide Glorioso, Lucia D'Auria, Danilo Donati
{"title":"COVID-19-Associated Cerebellitis: A Case Report and Rehabilitation Outcome.","authors":"Roberto Tedeschi, Vincenza Amoruso, Valentina Boetto, Davide Glorioso, Lucia D'Auria, Danilo Donati","doi":"10.1007/s12311-024-01721-x","DOIUrl":"10.1007/s12311-024-01721-x","url":null,"abstract":"<p><strong>Introduction: </strong>The COVID-19 pandemic has brought attention to neurological complications, including cerebellitis, characterized by inflammation of the cerebellum. Despite its rare occurrence, cerebellitis has been associated with COVID-19 infection, albeit the pathogenic mechanisms remain unclear.</p><p><strong>Case report: </strong>We present the case of a 22-year-old male with acute onset ataxia and dysarthria during a SARS-CoV-2 infection. Diagnostic evaluations ruled out other causes, confirming cerebellitis. Treatment included steroid therapy, vitamin supplementation, physiotherapy, and intravenous immunoglobulins. Rehabilitation focused on enhancing balance, coordination, and daily activities. The patient showed significant improvement in functional abilities, with increased autonomy in daily activities and improved ambulation. Despite persistent mild symptoms, the multidisciplinary rehabilitation approach led to remarkable progress.</p><p><strong>Conclusions: </strong>This case underscores the importance of recognizing and managing neurological complications, such as cerebellitis, in COVID-19 patients. A comprehensive approach combining medical treatment and rehabilitation is essential for optimizing outcomes. Further research is needed to elucidate the pathogenesis and optimal management strategies for such complications.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2629-2637"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11585512/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141617510","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
Cerebellar Theta Burst Stimulation Impairs Working Memory. 小脑θ脉冲刺激会损害工作记忆
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-08-22 DOI: 10.1007/s12311-024-01732-8
Nasem Raies, Jean-François Nankoo, Christopher R Madan, Robert Chen
{"title":"Cerebellar Theta Burst Stimulation Impairs Working Memory.","authors":"Nasem Raies, Jean-François Nankoo, Christopher R Madan, Robert Chen","doi":"10.1007/s12311-024-01732-8","DOIUrl":"10.1007/s12311-024-01732-8","url":null,"abstract":"<p><p>Working memory refers to the process of temporarily storing and manipulating information. The role of the cerebellum in working memory is thought to be achieved through its connections with the prefrontal cortex. Previous studies showed that theta burst stimulation (TBS), a form of repetitive transcranial magnetic stimulation, of the cerebellum changes its functional connectivity with the prefrontal cortex. Specifically, excitatory intermittent TBS (iTBS) increases, whereas inhibitory continuous TBS (cTBS) decreases this functional connectivity. We hypothesized that iTBS on the cerebellum will improve working memory, whereas cTBS will disrupt it. Sixteen healthy participants (10 women) participated in this study. Bilateral cerebellar stimulation was applied with a figure-of-eight coil at 3 cm lateral and 1 cm below the inion. The participants received iTBS, cTBS, and sham iTBS in three separate sessions in random order. Within 30 min after TBS, the participants performed four working memory tasks: letter 1-Back and 2-Back, digit span forward, and digit span backward. Repeated measures analysis of variance revealed a significant effect of the type of stimulation (iTBS/cTBS/Sham) on performance in the digit span backward task (p = 0.02). The planned comparison showed that the cTBS condition had significantly lower scores than the sham condition (p = 0.01). iTBS and cTBS did not affect performance in the 1- and 2-Back and the digit span forward tasks compared to sham stimulation. The findings support the hypothesis that the cerebellum is involved in working memory, and this contribution may be disrupted by cTBS.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2324-2331"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142019470","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
Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype - Phenotype Analysis. 巴西的脊髓小脑共济失调症:基因型-表型综合分析。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-09-25 DOI: 10.1007/s12311-024-01745-3
Maria Carolina Da Cunha Ganimi, Christian Marques Couto, Alessandra de La Rocque Ferreira, Carmen Lucia Antão Paiva
{"title":"Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype - Phenotype Analysis.","authors":"Maria Carolina Da Cunha Ganimi, Christian Marques Couto, Alessandra de La Rocque Ferreira, Carmen Lucia Antão Paiva","doi":"10.1007/s12311-024-01745-3","DOIUrl":"10.1007/s12311-024-01745-3","url":null,"abstract":"<p><p>Spinocerebellar ataxias (SCAs) are a diverse group of hereditary neurodegenerative disorders characterized by progressive degeneration of the cerebellum and other parts of the nervous system. In this study, we examined the genotype‒phenotype correlations in SCAs within the Brazilian population by leveraging a comprehensive dataset of 763 individuals from SARAH Network of Rehabilitation Hospitals. Using a retrospective, cross-sectional, observational, multicentric approach, we analysed medical records and conducted standardized molecular testing to explore epidemiological characteristics, clinical manifestations, and genetic profiles of SCAs in Brazil. Our findings revealed the predominance of SCA3, followed by SCA7 and SCA2, which aligns with global trends and reflects the specific genetic landscape of Brazil. A significant inverse relationship between the age of symptom onset and CAG repeat length in the mutated allele was observed across SCAs 2, 3, and 7. This study also highlights a trend towards paternal inheritance in SCA2 and details the distribution of CAG repeat expansions, which correlates larger expansions with earlier onset and specific symptomatology. This extensive analysis underscores the critical importance of genetic testing in the diagnosis and management of SCAs and enlightens the intricate genotype‒phenotype interplay within a genetically diverse population. Despite certain limitations, such as potential selection bias and the retrospective nature of the study, our research provides invaluable insights into the prevalence, genetic underpinnings, and clinical variability of SCAs in Brazil. We suggest a broader demographic scope and investigations into nonmotor symptoms in future studies to obtain a more comprehensive understanding of SCAs.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2414-2425"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331718","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 Latest Developments for the Treatment of Ataxia Telangiectasia: A Narrative Review. 治疗共济失调性远端血管扩张症的最新进展:叙述性综述。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-09-27 DOI: 10.1007/s12311-024-01746-2
Ali Mehri, Mehran Beiraghi Toosi, Ali Reza Tavasoli, Maryam Saberi-Karimian
{"title":"The Latest Developments for the Treatment of Ataxia Telangiectasia: A Narrative Review.","authors":"Ali Mehri, Mehran Beiraghi Toosi, Ali Reza Tavasoli, Maryam Saberi-Karimian","doi":"10.1007/s12311-024-01746-2","DOIUrl":"10.1007/s12311-024-01746-2","url":null,"abstract":"<p><p>Ataxia telangiectasia (AT), Louis-Bar syndrome, is a rare neurodegenerative disorder caused by autosomal recessive biallelic mutations within the ataxia telangiectasia mutated (ATM) gene. Currently, there are no curative therapies available for this disorder. This review provides an overview of the latest advances in treatment methods including 1- Acetyl-DL-leucine, 2- Bone Marrow Transplantation, 3- Gene Therapy, 4- Dexamethasone, and finally 5- Red Blood Cells (RBCs) as a carrier for dexamethasone (encapsulation of dexamethasone sodium phosphate into autologous erythrocytes, known as EryDex). Most of the treatments under investigation are in the early stages, except for the EryDex System. It appears that the EryDex system and N-Acetyl-DL-Leucine may hold promise as potential treatment options.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2607-2615"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331719","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
Differential Effects of Cerebellar Transcranial Direct Current Stimulation with Gait Training on Functional Mobility, Balance, and Ataxia Symptoms. 小脑经颅直流电刺激与步态训练对功能活动度、平衡和共济失调症状的不同影响
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-10-05 DOI: 10.1007/s12311-024-01750-6
Rodrigo Brito, João Victor Fabrício, Aurine Araujo, Mariana Sacchi, Adriana Baltar, Fernanda Albuquerque Lima, Ana Cecília Ribeiro, Bárbara Sousa, Camilla Santos, Clarice Tanaka, Kátia Monte-Silva
{"title":"Differential Effects of Cerebellar Transcranial Direct Current Stimulation with Gait Training on Functional Mobility, Balance, and Ataxia Symptoms.","authors":"Rodrigo Brito, João Victor Fabrício, Aurine Araujo, Mariana Sacchi, Adriana Baltar, Fernanda Albuquerque Lima, Ana Cecília Ribeiro, Bárbara Sousa, Camilla Santos, Clarice Tanaka, Kátia Monte-Silva","doi":"10.1007/s12311-024-01750-6","DOIUrl":"10.1007/s12311-024-01750-6","url":null,"abstract":"<p><p>Cerebellar transcranial direct current stimulation (ctDCS) has emerged as a promising, non-invasive, and safe neuromodulatory intervention capable of reducing ataxia symptoms and restoring cerebellum-motor connectivity. However, previous studies have only applied ctDCS in isolation, without association with specific training. This study aimed to assess the effect of ctDCS combined with gait training on functional mobility, balance, and symptoms and severity of ataxia. A randomized, triple-blind, sham-controlled, bi-center clinical trial was conducted with forty-four adults with cerebellar ataxia. Volunteers were randomized to receive five daily sessions of either real ctDCS (n = 11; 2 mA for 25 min) or sham ctDCS (n = 11) during gait training. Functional mobility, balance, and symptoms and severity of ataxia were assessed using the Time Up and Go test, the MiniBESTest, and the Scale for the Assessment and Rating of Ataxia (SARA), respectively, before and after the interventions. Both groups showed improvement in functional mobility, but there was no significant difference between the ctDCS and sham groups. However, the ctDCS group demonstrated significant improvements in cerebellar ataxia severity as reflected by SARA scores, particularly in tests of stance, sitting, speech disturbance, nose-finger test, and heel-shin slide test. Notably, no improvements were observed in balance. This study indicates that while ctDCS combined with gait training may improve specific symptoms of cerebellar ataxia, it does not significantly enhance overall functional mobility compared to sham treatment.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2457-2467"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378544","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
Development of Extubation Success Prediction Model for Mechanically Ventilated Patients with Spontaneous Cerebellar Hemorrhage. 自发性小脑出血机械通气患者拔管成功率预测模型的开发
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-09-02 DOI: 10.1007/s12311-024-01737-3
Yao Jiang, Yue Yu, Jing Fan, Lei Zhang, Yang Ye, Ying-Hong Hu, Li-da Su
{"title":"Development of Extubation Success Prediction Model for Mechanically Ventilated Patients with Spontaneous Cerebellar Hemorrhage.","authors":"Yao Jiang, Yue Yu, Jing Fan, Lei Zhang, Yang Ye, Ying-Hong Hu, Li-da Su","doi":"10.1007/s12311-024-01737-3","DOIUrl":"10.1007/s12311-024-01737-3","url":null,"abstract":"<p><p>Spontaneous cerebellar hemorrhage (SCH) patients have a low success rate in extubation, but there are currently no guidelines establishing specifically for SCH patients extubation. The study included 68 SCH patients who received mechanical ventilation for more than 24 h, with 39 cases (57.3%) resulting in successful extubation. The multivariate analysis identified four factors significantly associated with extubation success: patient age under 66 years, an Intracerebral Hemorrhage (ICH) score less than 4 points, the presence of tissue shift, and a Glasgow Coma Scale (GCS) score (excluding language) above 6 points at extubation. By simplifying the prediction model, we obtained the Spontaneous Cerebellar Hemorrhage Extubation Success scoring system (SCHES-SCORE). Within the scoring system, 2 points were allocated for a GCS score (excluding language) above 6 at extubation, 1 point each for age under 66 years and an ICH score below 4, while tissue shift was assigned a negative point. A score of Grade A (SCHES-SCORE = 3-4) was found to correlate with a 92.9% success rate for extubation. The area under the receiver operating characteristic curve was 0.923 (95% CI, 0.863 to 0.983). Notably, successful extubation was significantly linked to reduced durations of mechanical ventilation, intensive care unit (ICU) stay, and total hospital stay. In conclusion, the scoring system developed for assessing extubation outcomes in SCH patients has the potential to enhance the rate of successful extubation and overall patient outcomes.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2372-2382"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114437","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
Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic. 波雷蒂-博尔特豪泽综合征的产前诊断--一例臼齿征象模拟病例报告
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-08-12 DOI: 10.1007/s12311-024-01728-4
Miguel Pereira-Macedo, Ana Grangeia, Ana Costa Braga, Ricardo Rolim, Alexandra Matias
{"title":"Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.","authors":"Miguel Pereira-Macedo, Ana Grangeia, Ana Costa Braga, Ricardo Rolim, Alexandra Matias","doi":"10.1007/s12311-024-01728-4","DOIUrl":"10.1007/s12311-024-01728-4","url":null,"abstract":"<p><p>We report the prenatal diagnosis of Poretti-Boltshauser Syndrome (PBS) in a 36-year-old primigravida woman. At 22 weeks and 6 days of gestation, fetal ultrasound revealed a normally shaped but hyperechogenic cerebellum with all supratentorial structures appearing normal. Differential diagnosis included cavernous hemangioma, capillary telangiectasia, and cerebellar hemorrhage. Subsequent fetal cerebral MRI showed diffuse bilateral cerebellar modifications, reduced cranio-caudal diameter of the vermis, and pathological elongation and thickening of the superior cerebellar peduncles indicative of the molar tooth sign. Amniocentesis and whole exome sequencing identified two heterozygous truncating variants in the LAMA1 gene: c.3099G > A (p.Trp1033Ter) and c.3699T > A (p.Tyr1233Ter), confirming PBS.) Following the diagnosis, the pregnancy was terminated at 23 weeks and 5 days. Post-mortem examination supported the MRI findings consistent with PBS. This case highlights the importance of integrating ultrasound, MRI, and genetic analysis for accurate prenatal diagnosis and emphasizes the molecular diversity associated with PBS, including the presence of molar tooth sign mimics and a novel c.3699T > A variant.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2646-2649"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141917983","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
Differential Effects of Continuous Theta Burst Stimulation over the Bilateral and Unilateral Cerebellum on Working Memory. 连续θ脉冲刺激双侧和单侧小脑对工作记忆的不同影响
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-08-31 DOI: 10.1007/s12311-024-01738-2
Guilan Huang, Xin Wang, Tingni Li, Yi Xu, Yiyang Sheng, Hewei Wang, Li Bian, Kai Zheng, Xinlei Xu, Guofu Zhang, Bin Su, Caili Ren
{"title":"Differential Effects of Continuous Theta Burst Stimulation over the Bilateral and Unilateral Cerebellum on Working Memory.","authors":"Guilan Huang, Xin Wang, Tingni Li, Yi Xu, Yiyang Sheng, Hewei Wang, Li Bian, Kai Zheng, Xinlei Xu, Guofu Zhang, Bin Su, Caili Ren","doi":"10.1007/s12311-024-01738-2","DOIUrl":"10.1007/s12311-024-01738-2","url":null,"abstract":"<p><p>Recent functional MRI studies have implicated the cerebellum in working memory (WM) alongside the prefrontal cortex. Some findings indicate that the right cerebellum is activated during verbal tasks, while the left is engaged during visuospatial tasks, suggesting cerebellar lateralization in WM function. The cerebellum could be a potential target for non-invasive brain stimulation (NIBS) to enhance WM function in cognitive disorders. However, the comprehensive influence of cerebellar lateralization on different types of WM and the effect of stimulation over the unilateral or bilateral cerebellum remain uncertain. This study was to investigate the cerebellum's functional lateralization and its specific impact on various aspects of WM in a causal manner using unilateral or bilateral cerebellar continuous theta burst stimulation (cTBS), a form of inhibitroy NIBS. Twenty-four healthy participants underwent four sessions of cTBS targeting the left, right, or bilateral Crus I of the cerebellum, or a sham condition, in a controlled cross-over design. WM performance was assessed pre- and post-stimulation using neuropsychological tests, including the 3-back task, spatial WM task, and digit span task. Results indicated that cTBS over the bilateral and right cerebellum both led to a greater improvement in 3-back task performance compared to sham stimulation. Additionally, active cTBS over the bilateral cerebellum yielded better performance in the spatial WM task than sham stimulation. However, no significant differences were observed between stimulation conditions for the auditory digit span task. This study may provide novel causal evidence highlighting the specific involvement of the right and bilateral cerebellum in various types of WM. Specifically, the right cerebellum appears crucial for updating and tracking 3-back WM content, while spatial WM processes require the coordinated engagement of both cerebellar hemispheres.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2360-2371"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114438","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
Purkinje Cell Dendritic Swellings: A Postmortem Study of Essential Tremor and Other Cerebellar Degenerative Disorders. 普肯涅细胞树突状肿胀:本质性震颤和其他小脑退行性疾病的尸检研究。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-09-04 DOI: 10.1007/s12311-024-01739-1
Elan D Louis, Sheng-Han Kuo, Phyllis L Faust
{"title":"Purkinje Cell Dendritic Swellings: A Postmortem Study of Essential Tremor and Other Cerebellar Degenerative Disorders.","authors":"Elan D Louis, Sheng-Han Kuo, Phyllis L Faust","doi":"10.1007/s12311-024-01739-1","DOIUrl":"10.1007/s12311-024-01739-1","url":null,"abstract":"<p><p>Under stress, Purkinje cells (PCs) undergo a variety of reactive morphological changes. These can include swellings of neuronal processes. While axonal swellings, \"torpedoes\", have been well-studied, dendritic swellings (DS) have not been the centerpiece of study. Surprisingly little is known about their frequency or relationship to other morphological changes in degenerating PCs. Leveraging a large brain bank, we (1) examined the morphology of DS, (2) quantified DS, and (2) examined correlations between counts of DS versus 16 other PC morphological changes in a broad range of cerebellar degenerative disorders. There were 159 brains - 100 essential tremor (ET), 13 Friedreich's ataxia, and 46 spinocerebellar ataxia (SCA) (14 SCA1, 7 SCA2, 13 SCA3, 5 SCA6, 5 SCA7, and 2 SCA8). DS were a feature of PCs across all these disorders, with varying morphologies and changes elsewhere in the dendritic arbor. On Luxol fast blue/hematoxylin and eosin-stained sections, the median number of DS per PC ranged from 0.001 in ET to 0.025 in SCA8. Bielschowsky-stained sections yielded higher counts, from 0.003 in ET to 0.042 in SCA6. Torpedo counts exceeded DS counts by one order of magnitude. DS counts were more robustly correlated with torpedo counts than with counts for any of the other PC morphological changes. In summary, DS ranged in prevalence across cerebellar degenerative disorders, from 1/1,000 to 42/1,000 PCs. Across disorders of cerebellar degeneration, these swellings of the dendritic compartment were most robustly correlated with swellings of the axonal compartment, suggesting a similar type of cellular response to duress.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2383-2396"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127237","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
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