Cerebellum最新文献

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Differences in the Impact of Intensive Rehabilitation on Hereditary Ataxias and the Cerebellar Subtype of Multiple System Atrophy. 强化康复对遗传性共济失调和多系统萎缩症小脑亚型的影响存在差异。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-10-04 DOI: 10.1007/s12311-024-01744-4
Kyota Bando, Yuki Kondo, Yuta Miyazaki, Takatoshi Hara, Yuji Takahashi
{"title":"Differences in the Impact of Intensive Rehabilitation on Hereditary Ataxias and the Cerebellar Subtype of Multiple System Atrophy.","authors":"Kyota Bando, Yuki Kondo, Yuta Miyazaki, Takatoshi Hara, Yuji Takahashi","doi":"10.1007/s12311-024-01744-4","DOIUrl":"10.1007/s12311-024-01744-4","url":null,"abstract":"<p><p>Multiple system atrophy-cerebellar type (MSA-C) exhibits faster disease progression than does hereditary spinocerebellar degeneration (hSCD). In this study, we aimed to investigate the differences in the treatment effects and sustainability of intensive rehabilitation between patients with hSCD and those with MSA-C. Forty-nine patients (hSCD = 30, MSA-C = 19) underwent a 2- or 4-week intensive rehabilitation program. Balance function was evaluated using the scale for the assessment and rating of ataxia (SARA) and the balance evaluation systems test (BESTest) at pre-intervention, post-intervention, and 6-month follow-up. Notably, both groups demonstrated beneficial effects from the rehabilitation intervention. However, differences were observed in the magnitude and duration of these effects. In the hSCD group, the SARA scores at follow-up remained similar to those at baseline, indicating sustained benefits. However, the MSA-C group showed some deterioration in SARA scores compared with baseline scores but maintained improvements on the BESTest, demonstrating partial sustainability. Differences, mainly in sustainability, were observed between the hSCD and MSA-C groups. This may be due to varying rates of symptom progression. The findings of this study are significant when considering the frequency of follow-ups based on disease type.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2447-2456"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11585490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142373471","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
Acute Cerebellar Manifestations without Limbic Involvement in GABAB Receptor Autoimmune Encephalitis: Case Report and Literature Review. GABAB受体自身免疫性脑炎的急性小脑表现而无肢体受累:病例报告和文献综述。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-08-13 DOI: 10.1007/s12311-024-01729-3
Taro Yasumoto, Kaho Onizawa, Sara Mori, Toshiatsu Obi, Masato Keicho, Shimpei Watanabe, Yoko Nabeshima, Hiroyasu Komuro, Seiya Takahashi, Akinori Futamura, Yasuhiko Baba, Ryuta Kinno
{"title":"Acute Cerebellar Manifestations without Limbic Involvement in GABA<sub>B</sub> Receptor Autoimmune Encephalitis: Case Report and Literature Review.","authors":"Taro Yasumoto, Kaho Onizawa, Sara Mori, Toshiatsu Obi, Masato Keicho, Shimpei Watanabe, Yoko Nabeshima, Hiroyasu Komuro, Seiya Takahashi, Akinori Futamura, Yasuhiko Baba, Ryuta Kinno","doi":"10.1007/s12311-024-01729-3","DOIUrl":"10.1007/s12311-024-01729-3","url":null,"abstract":"<p><p>Autoimmune encephalitis is a rapidly progressive inflammatory brain disease. Gamma-aminobutyric acid type B (GABA<sub>B</sub>) receptor autoimmune encephalitis is a rare subtype characterized by distinct clinical features. Diagnosis can be especially challenging when typical limbic symptoms and neuroimaging findings are absent. This case report underscores the importance of identifying this condition and starting immunosuppressive treatment promptly. A 59-year-old man presented with gait disturbances, dysarthria, and severe ataxia without cognitive impairment. Initial examinations, including a brain MRI, were unremarkable, except for an elevated cell count and protein in the cerebrospinal fluid. Despite receiving initial empirical antiviral treatment, his symptoms worsened, prompting the administration of intravenous methylprednisolone and immunoglobulin. After these immunosuppressive therapies, the cerebellar symptoms showed gradual improvement. Subsequent testing for antibodies to the GABA<sub>B</sub> receptor was positive in both the serum and cerebrospinal fluid. Follow-up MRI revealed cerebellar atrophy, consistent with a diagnosis of GABA<sub>B</sub> receptor-associated acute cerebellitis. This case illustrates that cerebellar symptoms can occur in the absence of more common limbic manifestations in GABA<sub>B</sub> receptor autoimmune encephalitis. The progression of cerebellar atrophy following an initially normal MRI is a significant finding that offers supporting evidence for the diagnosis of cerebellitis. A review of the literature identified similar cases of acute cerebellitis without limbic symptoms, although neuroimaging abnormalities in the cerebellum were not reported. Our case underscores the importance of increased clinical awareness and consideration of autoimmune causes, even when neuroimaging appears normal. Early and appropriate immunosuppressive therapy may help change the course of the disease and enhance patient outcomes.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2650-2654"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972282","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
Polyneuropathy in Patients with Spinocerebellar Ataxias Types 2, 3, and 10: A Systematic Review. 脊髓小脑性共济失调 2、3 和 10 型患者的多发性神经病:系统综述
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-08-29 DOI: 10.1007/s12311-024-01730-w
André Eduardo de Almeida Franzoi, Gustavo Figueiredo da Silva, Eduardo de Souza Somensi, Marcelo Henrique de Moura Campos, Giulia Murillo Wollmann, Otto Jesus Hernandez Fustes, Gustavo Lenci Marques, Helio Afonso Ghizoni Teive
{"title":"Polyneuropathy in Patients with Spinocerebellar Ataxias Types 2, 3, and 10: A Systematic Review.","authors":"André Eduardo de Almeida Franzoi, Gustavo Figueiredo da Silva, Eduardo de Souza Somensi, Marcelo Henrique de Moura Campos, Giulia Murillo Wollmann, Otto Jesus Hernandez Fustes, Gustavo Lenci Marques, Helio Afonso Ghizoni Teive","doi":"10.1007/s12311-024-01730-w","DOIUrl":"10.1007/s12311-024-01730-w","url":null,"abstract":"<p><p>Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with a low prevalence, for which more than 50 types have been described. This group of neurodegenerative diseases can present as different phenotypes with varying progression rates and clinical manifestations of different severities. Herein, we systematically reviewed existing medical literature to describe the main characteristics of polyneuropathy in patients with SCA types 2, 3, and 10. Using relevant keywords, 16,972 articles were identified from the databases. Of these, 5,329 duplicate studies were excluded before screening. Subsequently, 11,643 studies underwent title and abstract review, of which only 49 were selected for full-text review. Among these, 24 studies were included. The medical literature suggests peripheral neuropathy - probably in a polyneuropathy phenotype - in SCA types 2 and 3. It is not possible to determine whether there is peripheral neuropathy in patients with SCA type 10, as there is only one case series in Mexico that described peripheral neuropathy in this group. Further studies are required to investigate peripheral neuropathy in patients with SCA types 2, 3, and 10. The study and description of a possible statistical association between CAG repeats and SARA scale scores with the presence of peripheral neuropathy are important points requiring assessment in future research.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2593-2606"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142094035","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
Long-Term Follow-Up before and during Riluzole Treatment in Six Patients from Two Families with Spinocerebellar Ataxia Type 7. 对来自两个家族的六名脊髓型小脑共济失调 7 型患者进行利鲁唑治疗前和治疗期间的长期随访。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-07-08 DOI: 10.1007/s12311-024-01714-w
Agnese Suppiej, Chiara Ceccato, Radouil Tzekov, Iveta Cermakova, Francesco Parmeggiani, Gianmarco Bellucci, Marco Salvetti, Theresa Zesiewicz, Giovanni Ristori, Silvia Romano
{"title":"Long-Term Follow-Up before and during Riluzole Treatment in Six Patients from Two Families with Spinocerebellar Ataxia Type 7.","authors":"Agnese Suppiej, Chiara Ceccato, Radouil Tzekov, Iveta Cermakova, Francesco Parmeggiani, Gianmarco Bellucci, Marco Salvetti, Theresa Zesiewicz, Giovanni Ristori, Silvia Romano","doi":"10.1007/s12311-024-01714-w","DOIUrl":"10.1007/s12311-024-01714-w","url":null,"abstract":"<p><strong>Background: </strong>Currently no curative treatment exists for spinocerebellar ataxias (SCAs). Riluzole repurposing was proposed as a symptomatic treatment in different types of cerebellar ataxia. We report a long-term-follow up under riluzole treatment in SCA type 7.</p><p><strong>Methods: </strong>Six patients received Riluzole 50 mg twice daily on a compassionate use program for a mean of 4.8 years (range 3.5-9). We measured ataxia onset and progression through the Scale for the Assessment and Rating of Ataxia (SARA), and collected extensive ophthalmological data before and after Riluzole treatment. Electrocardiogram and laboratory profile for drug safety were performed every six months.</p><p><strong>Results: </strong>Riluzole treatment showed no effect on visual function in two patients with an advanced retinal damage. Improvements of visual function occurred in four patients followed by ophthalmologic stability up to 5 years after starting treatment. Two patients had a less steep deterioration of ataxia after treatment compared to pre-treatment, during the first 2,5 years of therapy. One showed soon after therapy an improvement of the SARA score, and then overall stability lasting 3,5 years, followed by ataxia worsening. One visually impaired patient without neurological impairment did not worse until the last visit after 3,5 years of follow-up. The remaining 2 patients showed an improvement of SARA scores soon after therapy, and an overall stability lasting respectively 5 and 3 years. No adverse event was registered during the observation period.</p><p><strong>Discussion: </strong>This study suggests a possible beneficial action of Riluzole in SCA7 and provides a detailed description of the ophthalmologic profile of these patients.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2226-2235"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11585522/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555846","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
The Impact of Bilateral Cerebellar Transcranial Direct Current Stimulation on Balance Control in Healthy Young Adults. 双侧小脑经颅直流电刺激对健康年轻人平衡控制的影响
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-12-01 Epub Date: 2024-10-09 DOI: 10.1007/s12311-024-01749-z
Xin Huang, Zhiqin Xu, Lingxiang Zhou, Ke Dong, Qingqing Liu, Jiating Li, Di Lei, Hanjun Liu, Xi Chen
{"title":"The Impact of Bilateral Cerebellar Transcranial Direct Current Stimulation on Balance Control in Healthy Young Adults.","authors":"Xin Huang, Zhiqin Xu, Lingxiang Zhou, Ke Dong, Qingqing Liu, Jiating Li, Di Lei, Hanjun Liu, Xi Chen","doi":"10.1007/s12311-024-01749-z","DOIUrl":"10.1007/s12311-024-01749-z","url":null,"abstract":"<p><p>Cerebellar transcranial direct current stimulation (tDCS) has been shown to influence movement functions, but little is known about the specific effects of stimulation polarity on balance control. This study investigated the impact of bilateral cerebellar tDCS on balance functions as a function of stimulation polarity. In this randomized, controlled trial, thirty-nine healthy young adults were assigned to one of three groups: right anodal/left cathodal cerebellar stimulation (AC group), right cathodal/left anodal cerebellar stimulation (CA group), and a control sham group. Each participant underwent a daily 30-minute session of tDCS at 2 mA for one week. Balance function was assessed pre- and post-intervention and the data were analyzed using generalized estimating equations. The CA group exhibited a significant reduction in sway area when standing on the left leg and on both stable and unstable surfaces with eyes open, compared to both the AC and sham groups. However, there were no significant differences among the groups in terms of sway length, anteroposterior velocity, or mediolateral velocity. Our results indicate the polarity-dependent effects of bilateral cerebellar tDCS on balance functions, with enhanced stability observed only following cathodal tDCS over the right cerebellum paired with anodal tDCS over the left cerebellum. This polarity-specific modulation may have implications for developing cerebellar neuromodulation interventions for movement disorders.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2468-2476"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394977","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
Psychometric Validation of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) in Patients With Spinocerebellar Ataxia. 脊髓小脑共济失调患者共济失调评估和评级修正功能量表(f-SARA)的心理计量学验证。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-06-12 DOI: 10.1007/s12311-024-01707-9
Michele Potashman, Evan Popoff, Lauren Powell, Ainsley Mackenzie, Melissa Wolfe Beiner, Vlad Coric, Jeremy Schmahmann, Gilbert L'Italien
{"title":"Psychometric Validation of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) in Patients With Spinocerebellar Ataxia.","authors":"Michele Potashman, Evan Popoff, Lauren Powell, Ainsley Mackenzie, Melissa Wolfe Beiner, Vlad Coric, Jeremy Schmahmann, Gilbert L'Italien","doi":"10.1007/s12311-024-01707-9","DOIUrl":"10.1007/s12311-024-01707-9","url":null,"abstract":"<p><p>This study aimed to generate evidence to support psychometric validity of the modified functional Scale for the Assessment and Rating of Ataxia (f-SARA) among patients with spinocerebellar ataxia (SCA). Psychometric measurement properties and minimal change thresholds of the f-SARA were evaluated using data from a cohort of SCA subjects (recruited at Massachusetts General Hospital [MGH]; n = 33) and data from a phase 3 trial of troriluzole in adults with SCA (NCT03701399 [Study 206]; n = 217), including a subset of patients with the SCA3 genotype (n = 89). f-SARA item ceiling effects were absent within the MGH cohort, while floor effects were present. Excellent internal consistency reliability was demonstrated (α<sub>total</sub> = 0.90; α<sub>items-removed</sub> = 0.86-0.90), and item-to-total correlations were strong (r = 0.82-0.91, per item). High test-retest reliability was demonstrated with intraclass correlation coefficients of 0.91 (total) and 0.73-0.92 (items). Convergent and divergent validity was supported, with strong correlations observed between the f-SARA and similarly constructed scales (FARS-FUNC, BARS, PROM-ADL, and FARS-ADL; all p < 0.001) and weaker correlations observed among measures of differing constructs. Mean item and total scores increased with disease severity (by FARS-FUNC quartile; p < 0.001). A 1-point threshold for meaningful changes was supported as 0.5 × SD = 0.89, SEM = 1.12, and mean changes from baseline for patients classified as \"improved,\" \"no change,\" or \"deteriorated\" were -0.68, 0.02, and 0.58, respectively. Similar trends were observed in Study 206 all-SCA and SCA3 cohorts. The measurement properties of the f-SARA provide evidence of its psychometric validity, responsiveness, and suitability as a clinical outcome measure in patients with SCA, including those with SCA3.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2095-2108"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489232/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141307263","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
Quantitative Evaluation of Stance as a Sensitive Biomarker of Postural Ataxia Development in Preclinical SCA1 Mutation Carriers. 将姿态定量评估作为临床前 SCA1 突变携带者姿势共济失调发展的敏感生物标志物
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-03-16 DOI: 10.1007/s12311-024-01679-w
Anna Sobanska, Leszek Czerwosz, Anna Sulek, Rafal Rola, Iwona Stepniak, Maria Rakowicz
{"title":"Quantitative Evaluation of Stance as a Sensitive Biomarker of Postural Ataxia Development in Preclinical SCA1 Mutation Carriers.","authors":"Anna Sobanska, Leszek Czerwosz, Anna Sulek, Rafal Rola, Iwona Stepniak, Maria Rakowicz","doi":"10.1007/s12311-024-01679-w","DOIUrl":"10.1007/s12311-024-01679-w","url":null,"abstract":"<p><p>The aim of this study was to determine the time between the first detection of postural control impairments and the evident manifestation of ataxia in preclinical SCA1 individuals. Twenty five preclinical SCA1 mutation carriers: 13 with estimated disease onset ≤ 6 years (SCA1 +) aged 27.8 ± 8.1 years; 12 with expected disease onset > 6 years (SCA1-) aged 26.6 ± 3.1 years and 26 age and sex matched healthy controls (HCs) underwent static posturography during 5 years of observation. The movements of the centre of feet pressure (COP) during quiet standing with eyes open (EO) and closed (EC) were quantified by calculating the mean radius (R), developed surface area (A) and mean COP movement velocity (V). Ataxia was evaluated by use of the Scale for Assessment and Rating of Ataxia (SARA).SCA1 + exhibited significantly worse quality of stance with EC vs. SCA1- (p < 0.05 for V) and HCs (p < 0.001) even 5 to 6 years before estimated disease onset. There were no statistically significant differences between SCA1- and HCs. A slow increase in Cohen's d effect size was observed for V<sub>EO</sub> up to the clinical manifestation of ataxia. V<sub>EO</sub> and A<sub>EC</sub> recorded in preclinical SCA1 individuals correlated slightly but statistically significantly with SARA (r = 0.47).The study confirms that static posturography detects COP sway changes in SCA1 preclinical gene carriers even 5 to 6 years before estimated disease onset. The quantitative evaluation of stance in preclinical SCA is a sensitive biomarker for the monitoring of the disease progression and may be useful in clinical trials.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"1882-1891"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140141062","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 and Validation of SCACOMS, a Composite Scale for Assessing Disease Progression and Treatment Effects in Spinocerebellar Ataxia. 脊髓小脑共济失调疾病进展和治疗效果综合评估量表 SCACOMS 的开发与验证
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-05-07 DOI: 10.1007/s12311-024-01697-8
Gilbert L'Italien, Evan Popoff, Basia Rogula, Lauren Powell, Michele Potashman, Sam Dickson, Patrick O'Keefe, Melissa Beiner, Vlad Coric, Susan Perlman, Jeremy D Schmahmann, Suzanne Hendrix
{"title":"Development and Validation of SCACOMS, a Composite Scale for Assessing Disease Progression and Treatment Effects in Spinocerebellar Ataxia.","authors":"Gilbert L'Italien, Evan Popoff, Basia Rogula, Lauren Powell, Michele Potashman, Sam Dickson, Patrick O'Keefe, Melissa Beiner, Vlad Coric, Susan Perlman, Jeremy D Schmahmann, Suzanne Hendrix","doi":"10.1007/s12311-024-01697-8","DOIUrl":"10.1007/s12311-024-01697-8","url":null,"abstract":"<p><p>Spinocerebellar ataxias (SCA) are rare inherited neurodegenerative disorders characterized by a progressive impairment of gait, balance, limb coordination, and speech. There is currently no composite scale that includes multiple aspects of the SCA experience to assess disease progression and treatment effects. Applying the method of partial least squares (PLS) regression, we developed the Spinocerebellar Ataxia Composite Scale (SCACOMS) from two SCA natural history datasets (NCT01060371, NCT02440763). PLS regression selected items based on their ability to detect clinical decline, with optimized weights based on the item's degree of progression. Following model validation, SCACOMS was leveraged to examine disease progression and treatment effects in a 48-week SCA clinical trial cohort (NCT03701399). Items from the Clinical Global Impression-Global Improvement Scale (CGI-I), the Friedreich Ataxia Rating Scale (FARS) - functional stage, and the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) were objectively selected with weightings based on their sensitivity to clinical decline. The resulting SCACOMS exhibited improved sensitivity to disease progression and greater treatment effects (compared to the original scales from which they were derived) in a 48-week clinical trial of a novel therapeutic agent. The trial analyses also provided a SCACOMS-derived estimate of the temporal delay in SCA disease progression. SCACOMS is a useful composite measure, effectively capturing disease progression and highlighting treatment effects in patients with SCA. SCACOMS will be a powerful tool in future studies given its sensitivity to clinical decline and ability to detect a meaningful clinical impact of disease-modifying treatments.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2028-2041"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140861127","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
Gap Junctions May Have A Computational Function In The Cerebellum: A Hypothesis. 小脑中的间隙连接可能具有计算功能:一个假设
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-03-18 DOI: 10.1007/s12311-024-01680-3
Mike Gilbert, Anders Rasmussen
{"title":"Gap Junctions May Have A Computational Function In The Cerebellum: A Hypothesis.","authors":"Mike Gilbert, Anders Rasmussen","doi":"10.1007/s12311-024-01680-3","DOIUrl":"10.1007/s12311-024-01680-3","url":null,"abstract":"<p><p>In the cerebellum, granule cells make parallel fibre contact on (and excite) Golgi cells and Golgi cells inhibit granule cells, forming an open feedback loop. Parallel fibres excite Golgi cells synaptically, each making a single contact. Golgi cells inhibit granule cells in a structure called a glomerulus almost exclusively by GABA spillover acting through extrasynaptic GABA<sub>A</sub> receptors. Golgi cells are connected dendritically by gap junctions. It has long been suspected that feedback contributes to homeostatic regulation of parallel fibre signals activity, causing the fraction of the population that are active to be maintained at a low level. We present a detailed neurophysiological and computationally-rendered model of functionally grouped Golgi cells which can infer the density of parallel fibre signals activity and convert it into proportional modulation of inhibition of granule cells. The conversion is unlearned and not actively computed; rather, output is simply the computational effect of cell morphology and network architecture. Unexpectedly, the conversion becomes more precise at low density, suggesting that self-regulation is attracted to sparse code, because it is stable. A computational function of gap junctions may not be confined to the cerebellum.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"1903-1915"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140159466","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
Consensus Paper: Cerebellum and Reward. 共识文件:小脑与奖赏。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-05-20 DOI: 10.1007/s12311-024-01702-0
Mario Manto, Michael Adamaszek, Richard Apps, Erik Carlson, Julian Guarque-Chabrera, Elien Heleven, Shinji Kakei, Kamran Khodakhah, Sheng-Han Kuo, Chi-Ying R Lin, Mati Joshua, Marta Miquel, Hiroshi Mitoma, Noga Larry, Julie Anne Péron, Jasmine Pickford, Dennis J L G Schutter, Manpreet K Singh, Tommy Tan, Hirokazu Tanaka, Peter Tsai, Frank Van Overwalle, Kunihiko Yamashiro
{"title":"Consensus Paper: Cerebellum and Reward.","authors":"Mario Manto, Michael Adamaszek, Richard Apps, Erik Carlson, Julian Guarque-Chabrera, Elien Heleven, Shinji Kakei, Kamran Khodakhah, Sheng-Han Kuo, Chi-Ying R Lin, Mati Joshua, Marta Miquel, Hiroshi Mitoma, Noga Larry, Julie Anne Péron, Jasmine Pickford, Dennis J L G Schutter, Manpreet K Singh, Tommy Tan, Hirokazu Tanaka, Peter Tsai, Frank Van Overwalle, Kunihiko Yamashiro","doi":"10.1007/s12311-024-01702-0","DOIUrl":"10.1007/s12311-024-01702-0","url":null,"abstract":"<p><p>Cerebellum is a key-structure for the modulation of motor, cognitive, social and affective functions, contributing to automatic behaviours through interactions with the cerebral cortex, basal ganglia and spinal cord. The predictive mechanisms used by the cerebellum cover not only sensorimotor functions but also reward-related tasks. Cerebellar circuits appear to encode temporal difference error and reward prediction error. From a chemical standpoint, cerebellar catecholamines modulate the rate of cerebellar-based cognitive learning, and mediate cerebellar contributions during complex behaviours. Reward processing and its associated emotions are tuned by the cerebellum which operates as a controller of adaptive homeostatic processes based on interoceptive and exteroceptive inputs. Lobules VI-VII/areas of the vermis are candidate regions for the cortico-subcortical signaling pathways associated with loss aversion and reward sensitivity, together with other nodes of the limbic circuitry. There is growing evidence that the cerebellum works as a hub of regional dysconnectivity across all mood states and that mental disorders involve the cerebellar circuitry, including mood and addiction disorders, and impaired eating behaviors where the cerebellum might be involved in longer time scales of prediction as compared to motor operations. Cerebellar patients exhibit aberrant social behaviour, showing aberrant impulsivity/compulsivity. The cerebellum is a master-piece of reward mechanisms, together with the striatum, ventral tegmental area (VTA) and prefrontal cortex (PFC). Critically, studies on reward processing reinforce our view that a fundamental role of the cerebellum is to construct internal models, perform predictions on the impact of future behaviour and compare what is predicted and what actually occurs.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":" ","pages":"2169-2192"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141071311","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}
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