Cerebellum最新文献

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Short-Term Efficacy of Cerebello-spinal tDCS and Body Weight-Supported Treadmill Training in the Hypertrophic Olivary Degeneration: a Rare Case Report. 脑脊髓 tDCS 和体重支持跑步机训练对肥厚性橄榄叶变性的短期疗效:罕见病例报告。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-12-20 DOI: 10.1007/s12311-023-01650-1
Xi-Chen Wang, Nai-Qing Cai, Xiao-Ping Cheng, Lin Zhang, Wen-Zong Wang, Jun Ni, Xin-Yuan Chen
{"title":"Short-Term Efficacy of Cerebello-spinal tDCS and Body Weight-Supported Treadmill Training in the Hypertrophic Olivary Degeneration: a Rare Case Report.","authors":"Xi-Chen Wang, Nai-Qing Cai, Xiao-Ping Cheng, Lin Zhang, Wen-Zong Wang, Jun Ni, Xin-Yuan Chen","doi":"10.1007/s12311-023-01650-1","DOIUrl":"10.1007/s12311-023-01650-1","url":null,"abstract":"<p><p>The present case study reported a patient diagnosed with hypertrophic olivary degeneration, a rare condition characterized by a trans-neuronal degeneration and signal enhancement in T2-weighted images on magnetic resonance imaging, usually caused by cerebral hemorrhage, cerebral infarction, and trauma. Furthermore, the relevant literature review was performed. The existing pharmacological treatment has limited clinical benefits on the patient. Since spontaneous remission hardly occurs in the disease, there are no other effective treatments. In this case, the patient was a 55-year-old Chinese male who presented progressive gait difficulty for several months due to both-sided ataxia. Neurological examination revealed upper extremity and lower limb bilateral spasticity, ataxia, slurred speech, and dysmetria. Therefore, our study treated the patient through the inventive application of cerebello-spinal transcranial direct current stimulation and body weight-supported treadmill training. After a 4-week treatment, the patient could walk independently, without aid, speeding up by 7%, as well as the ataxia symptoms, and balance has improved significantly. It was demonstrated in this case report that the combination of cerebello-spinal tDCS and body weight-supported treadmill training can be an effective treatment for patients with Hypertrophic olivary degeneration.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138813081","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
A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia. 一个患有双基因TBP/STUB1脊髓小脑共济失调症的中国家族
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2024-02-12 DOI: 10.1007/s12311-024-01664-3
Lili Liu, Juanjuan Chen, Guogao Zhang, Zhijian Lin, Di Chen, Jun Hu
{"title":"A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia.","authors":"Lili Liu, Juanjuan Chen, Guogao Zhang, Zhijian Lin, Di Chen, Jun Hu","doi":"10.1007/s12311-024-01664-3","DOIUrl":"10.1007/s12311-024-01664-3","url":null,"abstract":"<p><p>Spinocerebellar ataxias (SCAs) are inherited neurodegenerative diseases characterized by loss of balance, coordination, and slurred speech. Recently, a digenic mode of inheritance of TBP/STUB1 contributing to SCA was demonstrated. The clinical manifestations of SCA<sup>TBP/STUB1</sup> include not only ataxia but also obvious cognitive and behavioral impairment. Here, we describe a Chinese family with SCA<sup>TBP/STUB1</sup> and performed a literature search for similar cases. We identified a Chinese family with SCA<sup>TBP/STUB1</sup> and compare our clinical findings with other cases described in the literature so far. Four individuals in this family have been found to carry SCATBP/STUB1, of which three have clinical manifestations. A heterozygous deletion mutation in the STIP1-homologous and U-box containing protein 1 (STUB1) gene, NM_005861.4:c433_435del(p.K145del), was identified. The proband is a 34-year-old female with progressive dementia and dysarthria. The mother and uncle of the proband first presented with motor abnormalities and gradually developed cognitive impairment. The proband and her uncle showed cerebellar atrophy on MRI. The proband's brother carried digenic variants but was asymptomatic. SCA<sup>TBP/STUB1</sup> is a novel SCA subtype. The main clinical manifestations are motor, cognitive, and behavioral abnormalities. Brain MRI shows significant cerebellar atrophy and cortical thinning. The independent segregation of TBP and STUB1 alleles should be considered when evaluating patients with cognitive impairment and ataxia.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139717962","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
Favorable Outcomes in a Case of Non-paraneoplastic DNER Ataxia Treated with Immunotherapy. 免疫治疗非副肿瘤性DNER共济失调1例的良好结果。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-11-22 DOI: 10.1007/s12311-023-01636-z
Ruo-Nan Duan, Wei-Yue Si, Li-Li Cao
{"title":"Favorable Outcomes in a Case of Non-paraneoplastic DNER Ataxia Treated with Immunotherapy.","authors":"Ruo-Nan Duan, Wei-Yue Si, Li-Li Cao","doi":"10.1007/s12311-023-01636-z","DOIUrl":"10.1007/s12311-023-01636-z","url":null,"abstract":"<p><p>Anti-DNER antibody is associated with paraneoplastic cerebellar degeneration (PCD) and Hodgkin's disease (HD). However, recent studies reported cases absence of HD and that non-tumor anti-DNER antibody-associated ataxia was not well characterized. We present a case of acute cerebellar ataxia and nystagmus with detected anti-DNER antibody. Brain magnetic resonance imaging (MRI) showed cerebellar atrophy. High titer of anti-DNER antibody was detected in CSF and serum. Positron emission tomography (PET) scanning was unremarkable at a 10-month follow up. The patient improved significantly after immunosuppressive therapy with intravenous steroids, immunoglobulin followed by rituximab. Our study suggest that the presence of such anti-neuronal antibodies might not come along with malignancy and that early onset non-tumor patients are more likely to have a better outcome after immunotherapy. Early diagnosis and timely immunosuppressive therapy may prove beneficial for these patients.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138292341","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
Cerebellar Direct Current Stimulation Reveals the Causal Role of the Cerebellum in Temporal Prediction. 小脑直流电刺激揭示了小脑在时间预测中的因果作用
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-12-26 DOI: 10.1007/s12311-023-01649-8
Sara Terranova, Alessandro Botta, Martina Putzolu, Gaia Bonassi, Carola Cosentino, Susanna Mezzarobba, Elisa Ravizzotti, Elisa Pelosin, Laura Avanzino
{"title":"Cerebellar Direct Current Stimulation Reveals the Causal Role of the Cerebellum in Temporal Prediction.","authors":"Sara Terranova, Alessandro Botta, Martina Putzolu, Gaia Bonassi, Carola Cosentino, Susanna Mezzarobba, Elisa Ravizzotti, Elisa Pelosin, Laura Avanzino","doi":"10.1007/s12311-023-01649-8","DOIUrl":"10.1007/s12311-023-01649-8","url":null,"abstract":"<p><p>Temporal prediction (TP) influences our perception and cognition. The cerebellum could mediate this multi-level ability in a context-dependent manner. We tested whether a modulation of the cerebellar neural activity, induced by transcranial Direct Current Stimulation (tDCS), changed the TP ability according to the temporal features of the context and the duration of target interval. Fifteen healthy participants received anodal, cathodal, and sham tDCS (15 min × 2 mA intensity) over the right cerebellar hemisphere during a TP task. We recorded reaction times (RTs) to a target during the task in two contextual conditions of temporal anticipation: rhythmic (i.e., interstimulus intervals (ISIs) were constant) and single-interval condition (i.e., the estimation of the timing of the target was based on the prior exposure of the train of stimuli). Two ISIs durations were explored: 600 ms (short trials) and 900 ms (long trials). Cathodal tDCS improved the performance during the TP task (shorter RTs) specifically in the rhythmic condition only for the short trials and in the single-interval condition only for the long trials. Our results suggest that the inhibition of cerebellar activity induced a different improvement in the TP ability according to the temporal features of the context. In the rhythmic context, the cerebellum could integrate the temporal estimation with the anticipatory motor responses critically for the short target interval. In the single-interval context, for the long trials, the cerebellum could play a main role in integrating representation of time interval in memory with the elapsed time providing an accurate temporal prediction.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139038178","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
Serum S100β Levels Are Linked with Cognitive Decline and Peripheral Inflammation in Spinocerebellar Ataxia Type 2. 血清 S100β 水平与脊髓小脑共济失调 2 型患者的认知能力下降和外周炎症有关
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2024-02-12 DOI: 10.1007/s12311-024-01665-2
Yaimeé Vázquez-Mojena, Roberto Rodríguez-Labrada, Yanetsy Córdova-Rodríguez, Yennis Domínguez-Barrios, Mario E Fernández-Herrera, Karen León-Arcia, Nancy Pavón-Fuentes, Maria de Los Angeles Robinson-Agramonte, Luis Velázquez-Pérez
{"title":"Serum S100β Levels Are Linked with Cognitive Decline and Peripheral Inflammation in Spinocerebellar Ataxia Type 2.","authors":"Yaimeé Vázquez-Mojena, Roberto Rodríguez-Labrada, Yanetsy Córdova-Rodríguez, Yennis Domínguez-Barrios, Mario E Fernández-Herrera, Karen León-Arcia, Nancy Pavón-Fuentes, Maria de Los Angeles Robinson-Agramonte, Luis Velázquez-Pérez","doi":"10.1007/s12311-024-01665-2","DOIUrl":"10.1007/s12311-024-01665-2","url":null,"abstract":"<p><p>Experimental and clinical studies have indicated a potential role of the protein S100β in the pathogenesis and phenotype of neurodegenerative diseases. However, its impact on spinocerebellar ataxia type 2 (SCA2) remains to be elucidated. The objective of the study is to determine the serum levels of S100β in SCA2 and its relationship with molecular, clinical, cognitive, and peripheral inflammatory markers of the disease. Serum concentrations of S100β were measured by enzyme-linked immunosorbent assay in 39 SCA2 subjects and 36 age- and gender-matched controls. Clinical scores of ataxia, non-ataxia symptoms, cognitive dysfunction, and some blood cell count-derived inflammatory indices were assessed. The SCA2 individuals manifested S100β levels similar to the control group, at low nanomolar concentrations. However, the S100β levels were directly associated with a better performance of cognitive evaluation within the SCA2 cohort. Moreover, the S100β levels were inversely correlated with most peripheral inflammatory indices. Indeed, the neutrophil-to-lymphocyte ratio significantly mediated the effect of serum S100β on cognitive performance, even after controlling for the ataxia severity in the causal mediation analysis. Our findings suggested that, within physiologic concentrations, the protein S100β exerts a neuroprotective role against cognitive dysfunction in SCA2, likely via the suppression of pro-inflammatory mechanisms.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724890","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
Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome. 小脑异位症:拓宽 KBG 综合征的神经放射学范围
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2024-02-09 DOI: 10.1007/s12311-024-01661-6
Adelaide Carrara, Camilla Mangiarotti, Ludovica Pasca, Davide Politano, Fulvio D ' Abrusco, Veronica Carmen Barbero, Adriana Carpani, Renato Borgatti, Anna Pichiecchio, Enza Maria Valente, Romina Romaniello
{"title":"Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.","authors":"Adelaide Carrara, Camilla Mangiarotti, Ludovica Pasca, Davide Politano, Fulvio D ' Abrusco, Veronica Carmen Barbero, Adriana Carpani, Renato Borgatti, Anna Pichiecchio, Enza Maria Valente, Romina Romaniello","doi":"10.1007/s12311-024-01661-6","DOIUrl":"10.1007/s12311-024-01661-6","url":null,"abstract":"<p><p>KBG syndrome is a rare genetic disorder caused by heterozygous pathogenic variants in ANKRD11. Affected individuals have developmental delay, short stature, characteristic facial features, and other dysmorphic findings. To date, a spectrum of unspecific neuroradiological defects has been reported in KBG patients, such as cortical defects, white matter abnormalities, corpus callosum, and cerebellar vermis hypoplasia.Deep clinical and neuroradiological phenotyping and genotype of a patient presenting with mild cognitive and behavioral problems were obtained after written informed consent.We herein describe the first KBG patient presenting with cerebellar heterotopia, a heterogeneous malformation characterized by the presence of clusters of neurons within the white matter of cerebellar hemispheres.This novel association broadens the neuroradiological spectrum of KBG syndrome, and further prompts to investigate the potential functions of ANKRD11 in cerebellar development.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11269488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139708463","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 Volumetry in Ataxias: Relation to Ataxia Severity and Duration. 共济失调的小脑体积测量:共济失调严重程度与持续时间的关系
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2024-02-16 DOI: 10.1007/s12311-024-01659-0
Mónica Ferreira, Tamara Schaprian, David Kügler, Martin Reuter, Katharina Deike-Hoffmann, Dagmar Timmann, Thomas M Ernst, Paola Giunti, Hector Garcia-Moreno, Bart van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Heike Jacobi, Katharina Marie Steiner, Gülin Öz, James M Joers, Chiadi Onyike, Michal Povazan, Kathrin Reetz, Sandro Romanzetti, Thomas Klockgether, Jennifer Faber
{"title":"Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.","authors":"Mónica Ferreira, Tamara Schaprian, David Kügler, Martin Reuter, Katharina Deike-Hoffmann, Dagmar Timmann, Thomas M Ernst, Paola Giunti, Hector Garcia-Moreno, Bart van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Heike Jacobi, Katharina Marie Steiner, Gülin Öz, James M Joers, Chiadi Onyike, Michal Povazan, Kathrin Reetz, Sandro Romanzetti, Thomas Klockgether, Jennifer Faber","doi":"10.1007/s12311-024-01659-0","DOIUrl":"10.1007/s12311-024-01659-0","url":null,"abstract":"<p><p>Cerebellar atrophy is the neuropathological hallmark of most ataxias. Hence, quantifying the volume of the cerebellar grey and white matter is of great interest. In this study, we aim to identify volume differences in the cerebellum between spinocerebellar ataxia type 1 (SCA1), SCA3 and SCA6 as well as multiple system atrophy of cerebellar type (MSA-C). Our cross-sectional data set comprised mutation carriers of SCA1 (N=12), SCA3 (N=62), SCA6 (N=14), as well as MSA-C patients (N=16). Cerebellar volumes were obtained from T1-weighted magnetic resonance images. To compare the different atrophy patterns, we performed a z-transformation and plotted the intercept of each patient group's model at the mean of 7 years of ataxia duration as well as at the mean ataxia severity of 14 points in the SARA sum score. In addition, we plotted the extrapolation at ataxia duration of 0 years as well as 0 points in the SARA sum score. Patients with MSA-C demonstrated the most pronounced volume loss, particularly in the cerebellar white matter, at the late time intercept. Patients with SCA6 showed a pronounced volume loss in cerebellar grey matter with increasing ataxia severity compared to all other patient groups. MSA-C, SCA1 and SCA3 showed a prominent atrophy of the cerebellar white matter. Our results (i) confirmed SCA6 being considered as a pure cerebellar grey matter disease, (ii) emphasise the involvement of cerebellar white matter in the neuropathology of SCA1, SCA3 and MSA-C, and (iii) reflect the rapid clinical progression in MSA-C.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11269395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139742553","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 Red Flags" in Clinical Approach to Acute Ataxia-the Experience in Cohort of 76 Children. 急性共济失调临床治疗的“危险信号”——76例儿童队列的经验。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-11-27 DOI: 10.1007/s12311-023-01639-w
R Kravljanac, A Golubovic, B Vucetic Tadic, S Ostojic, I Cerovic, J Savkic
{"title":"\"The Red Flags\" in Clinical Approach to Acute Ataxia-the Experience in Cohort of 76 Children.","authors":"R Kravljanac, A Golubovic, B Vucetic Tadic, S Ostojic, I Cerovic, J Savkic","doi":"10.1007/s12311-023-01639-w","DOIUrl":"10.1007/s12311-023-01639-w","url":null,"abstract":"<p><p>The aim of our study is to define the most frequent etiology, clinical presentation, and predictive factors of outcome in children with acute ataxia (AA) and to determine \"the red flags\" in the diagnostic approach to children with AA. The retrospective study included the patients with AA treated in the institute from 2015 to 2021. The inclusion criteria were children aged 1-18 years, evolution time of ataxia within 72 h, and diagnosis made by a physician. The exclusion criteria were anamnestic data about ataxia without confirmation by any physician, chronic/persistent ataxia, and psychogenic or postictal ataxia. Clinical presentation was divided into two categories: (1) isolated cerebellar signs (CS): ataxic gait, dysmetria, dysdiadochokinesia, intention tremor, dysarthria, and nystagmus; (2) CS-plus symptoms which included CS associated with any of other symptoms such as encephalopathy (GCS < 15), awareness disturbances, vomiting, headache, a new onset limb or facial paresis, torticollis, hypotonia, and opsoclonus. The outcome was assessed at the end of hospitalization and was defined as complete or incomplete recovery. The study included 76 children, with a mean age of 5.7 years (IQR 2.1-8.3). The most frequent causes of AA were immune-mediated/infective cerebellar ataxia in 27 (35.5%), and intoxication in 24 (31.6%) cases, followed by vestibular ataxia, opsoclonus-myoclonus-ataxia syndrome, and intracranial expansive process. Forty-two (56%) cases experienced isolated CS, and 35 (46%) cases had CS-plus. Complete recovery was experienced by 62 (81.6%) patients. Analysis of some risk factors (sex, age, presence of previous infection, \"cerebellar plus symptoms,\" and structural abnormalities/neuroimaging abnormalities) and their relation to outcome was performed. Analysis showed that presence of additional symptoms to ataxia, so called \"cerebellar plus symptoms\" (p = 0.002) and structural abnormalities (p < 0.001), had statistically higher frequency of poor outcome. Statistical significance remained in the univariate analysis. Significant data was included in multivariate logistic regression analysis which also showed that presence of \"cerebellar plus symptoms\" (p = 0.021) and structural abnormalities (p = 0.002) is related to a poor outcome. Most of the children with AA have \"benign\" etiology such as intoxication and post/parainfectious cerebellar ataxia with favorable outcomes. On the other hand, AA might be the first manifestation of CNS neoplasm or paraneoplastic phenomena. \"The red flags\" associated with cerebellar signs are limbs or facial palsy, hypotonia, GCS < 15, vomiting, opsoclonus, headache, myoclonus, visual impairment, torticollis, and vertigo. The presence of those signs and/or structural brain abnormalities was related to poor outcomes in children with AA.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138441638","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
Effects of Non-invasive Brain Stimulation on Hereditary Ataxia: a Systematic Review and Meta-analysis. 非侵入性脑刺激对遗传性共济失调的影响:系统回顾和荟萃分析。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-11-29 DOI: 10.1007/s12311-023-01638-x
Ye Liu, Yiming Ma, Jing Zhang, Xuejing Yan, Yi Ouyang
{"title":"Effects of Non-invasive Brain Stimulation on Hereditary Ataxia: a Systematic Review and Meta-analysis.","authors":"Ye Liu, Yiming Ma, Jing Zhang, Xuejing Yan, Yi Ouyang","doi":"10.1007/s12311-023-01638-x","DOIUrl":"10.1007/s12311-023-01638-x","url":null,"abstract":"<p><p>Numerous studies have demonstrated the potential of non-invasive brain stimulation (NIBS) techniques as a viable treatment option for cerebellar ataxia. However, there is a notable dearth of research investigating the efficacy of NIBS specifically for hereditary ataxia (HA), a distinct subgroup within the broader category of cerebellar ataxia. This study aims to conduct a comprehensive systematic review and meta-analysis in order to assess the efficacy of various NIBS methods for the treatment of HA. A thorough review of the literature was conducted, encompassing both English and Chinese articles, across eight electrical databases. The focus was on original articles investigating the therapeutic effectiveness of non-invasive brain stimulation for hereditary ataxia, with a publication date prior to March 2023. Subsequently, a meta-analysis was performed specifically on randomized controlled trials (RCTs) that fulfilled the eligibility criteria, taking into account the various modalities of non-invasive brain stimulation. A meta-analysis was conducted, comprising five RCTs, which utilized the Scale for the Assessment and Rating of Ataxia (SARA) as the outcome measure to evaluate the effects of transcranial magnetic stimulation (TMS). The findings revealed a statistically significant mean decrease of 1.77 in the total SARA score following repetitive TMS (rTMS) (p=0.006). Subgroup analysis based on frequency demonstrated a mean decrease of 1.61 in the total SARA score after high-frequency rTMS (p=0.05), while no improvement effects were observed after low-frequency rTMS (p=0.48). Another meta-analysis was performed on three studies, utilizing ICARS scores, to assess the impact of rTMS. The results indicated that there were no statistically significant differences in pooled ICARS scores between the rTMS group and the sham group (MD=0.51, 95%CI: -5.38 to 6.39; p=0.87). These findings align with the pooled results of two studies that evaluated alterations in post-intervention BBS scores (MD=0.74, 95%CI: -5.48 to 6.95; p=0.82). Despite the limited number of studies available, this systematic review and meta-analysis have revealed promising potential benefits of rTMS for hereditary ataxia. However, it is strongly recommended that further high-quality investigations be conducted in this area. Furthermore, the significance of standardized protocols for NIBS in future studies was also emphasized.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138453002","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
Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study. 更好地了解夏利瓦-萨格奈共济失调症患者的步行速度:一项因素探索性研究。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-12-22 DOI: 10.1007/s12311-023-01646-x
Isabelle Lessard, Luc J Hébert, Raphaël St-Gelais, Isabelle Côté, Jean Mathieu, Bernard Brais, Cynthia Gagnon
{"title":"Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study.","authors":"Isabelle Lessard, Luc J Hébert, Raphaël St-Gelais, Isabelle Côté, Jean Mathieu, Bernard Brais, Cynthia Gagnon","doi":"10.1007/s12311-023-01646-x","DOIUrl":"10.1007/s12311-023-01646-x","url":null,"abstract":"<p><p>Mobility limitations, including a decrease in walking speed, are major issues for people with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Improving our understanding of factors influencing walking speed in ARSACS may inform the development of future interventions for gait rehabilitation and contribute to better clinical practices. The objective of the study was to identify the factors influencing the self-selected walking speed in adults with ARSACS. The dependent variable of this cross-sectional study was the self-selected speed and the factors (independent variables) were age, sex, balance, balance confidence, knee flexion and extension cocontraction indexes, lower limb coordination, passive range of motion of ankle dorsiflexion, knee and hip extension, and global spasticity. Multiple regression models were used to assess the relationships between walking speed and each factor individually. Six factors were significantly associated with walking speed and thus included in regression models. The models explained between 42.4 and 66.5% of the total variance of the self-selected walking speed. The factors that most influence self-selected walking speed are balance and lower limb coordination. In order of importance, the other factors that also significantly influence self-selected walking speed are ankle dorsiflexion range of motion, lower limb spasticity, knee extension range of motion, and confidence in balance. Balance and lower limb coordination should be targeted in rehabilitation interventions to maintain walking ability and functional independence as long as possible. The six factors identified should also be included in future studies to deepen our understanding of walking speed.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832846","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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