Cerebellum最新文献

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Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions. 脊髓小脑性共济失调27a伴偶发性共济失调:成纤维细胞生长因子14 (FGF14)微缺失病例系列
IF 2.4 3区 医学
Cerebellum Pub Date : 2025-10-16 DOI: 10.1007/s12311-025-01919-7
Elena Conci, Thomas L Kelly, Ruth Armstrong, Pooja Harijan, Rita Horvath
{"title":"Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions.","authors":"Elena Conci, Thomas L Kelly, Ruth Armstrong, Pooja Harijan, Rita Horvath","doi":"10.1007/s12311-025-01919-7","DOIUrl":"https://doi.org/10.1007/s12311-025-01919-7","url":null,"abstract":"","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"166"},"PeriodicalIF":2.4,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304413","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
Elevated Interleukin-8 in Spinocerebellar Ataxia Type 2: A Distinct Peripheral Immune Signature Unrelated To Disease Severity. 脊髓小脑性共济失调2型患者白细胞介素-8升高:与疾病严重程度无关的明显外周免疫特征
IF 2.4 3区 医学
Cerebellum Pub Date : 2025-10-13 DOI: 10.1007/s12311-025-01917-9
Yaimeé Vázquez-Mojena, Roberto Rodríguez-Labrada, Yanetsy Córdova-Rodríguez, Yennis Domínguez-Barrios, Diana Iris Zamora-Loyarte, Mario E Fernández-Herrera, Nancy Pavón-Fuentes, Maria de Los Angeles Robinson-Agramonte, Luis Velázquez-Pérez
{"title":"Elevated Interleukin-8 in Spinocerebellar Ataxia Type 2: A Distinct Peripheral Immune Signature Unrelated To Disease Severity.","authors":"Yaimeé Vázquez-Mojena, Roberto Rodríguez-Labrada, Yanetsy Córdova-Rodríguez, Yennis Domínguez-Barrios, Diana Iris Zamora-Loyarte, Mario E Fernández-Herrera, Nancy Pavón-Fuentes, Maria de Los Angeles Robinson-Agramonte, Luis Velázquez-Pérez","doi":"10.1007/s12311-025-01917-9","DOIUrl":"https://doi.org/10.1007/s12311-025-01917-9","url":null,"abstract":"<p><p>Growing experimental and clinical evidence demonstrates that immune activation influences Spinocerebellar Ataxia type 2 (SCA2) phenotype, yet the specific role of proinflammatory cytokines remains unexplored. This stuyd aims to measure peripheral proinflammatory cytokine concentrations in SCA2 patients and examine their associations with clinical, genetic, and inflammatory markers. We measured serum levels of interleukin-1α (IL-1α), interleukin-1β (IL-1β), interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor-α (TNF-α) using enzyme-linked immunosorbent assay in 36 spinocerebellar ataxia type 2 patients and 36 matched controls. Clinical evaluation encompassed the Scale for Assessment and Rating of Ataxia (SARA), Inventory of Non-Ataxia Symptoms count (INAS), Cerebellar Cognitive Affective Syndrome scale (CCAS-S), along with S100β protein levels and cellular inflammatory markers. We employed univariate correlation analyses to examine relationships between cytokine levels and disease characteristics. SCA2 patients demonstrated cytokine profiles similar to healthy controls, with the exception of significantly elevated IL-8 levels. Spearman correlation analysis revealed that the monocyte-to-lymphocyte ratio (MLR) was directly associated with IL-8 concentrations. Notably, no significant associations were found between the cytokine levels and demographic characteristics, age at onset, time from ataxia onset, CAG repeat length, or clinical markers of disease severity. Our study reveals selective peripheral IL-8 elevation in SCA2, independent of disease severity. While not linked to disease severity, this immune signature warrants further research to assess its prognostic or therapeutic value through larger, longitudinal studies.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"165"},"PeriodicalIF":2.4,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281702","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
Deletion of the Voltage-Gated Calcium Channel Gene, CaV1.3, Reduces Purkinje Cell Dendritic Complexity Without Altering Cerebellar-Mediated Eyeblink Conditioning. 电压门控钙通道基因CaV1.3的缺失在不改变小脑介导的眨眼调节的情况下降低了浦肯野细胞树突复杂性。
IF 2.4 3区 医学
Cerebellum Pub Date : 2025-10-11 DOI: 10.1007/s12311-025-01914-y
Annette Klomp, Martha Pace, Jacqueline Mehr, Maria Fernanda Hermosillo Arrieta, Cessily Hayes, Anthony Fleck, Shane Heiney, Aislinn Williams
{"title":"Deletion of the Voltage-Gated Calcium Channel Gene, Ca<sub>V</sub>1.3, Reduces Purkinje Cell Dendritic Complexity Without Altering Cerebellar-Mediated Eyeblink Conditioning.","authors":"Annette Klomp, Martha Pace, Jacqueline Mehr, Maria Fernanda Hermosillo Arrieta, Cessily Hayes, Anthony Fleck, Shane Heiney, Aislinn Williams","doi":"10.1007/s12311-025-01914-y","DOIUrl":"10.1007/s12311-025-01914-y","url":null,"abstract":"<p><p>Genetic variation in CACNA1D, the gene that encodes the pore-forming subunit of the L-type calcium channel Ca<sub>V</sub>1.3, has been associated with increased risk for neuropsychiatric disorders that display abnormalities in cerebellar structures. We sought to clarify if deletion of Ca<sub>V</sub>1.3 in mice would induce abnormalities in cerebellar cortex cytoarchitecture or synapse morphology. Since Ca<sub>V</sub>1.3 is highly expressed in cerebellar molecular layer interneurons (MLIs) and L-type channels appear to regulate GABA release from MLIs, we hypothesized that loss of Ca<sub>V</sub>1.3 would alter GABAergic synapses between MLIs and Purkinje cells (PCs) without altering MLI density or PC structure. As expected, we did not observe changes in the density of MLIs or PCs. Surprisingly, Ca<sub>V</sub>1.3 KO mice do have decreased complexity of PC dendritic arbors without differences in the number or structure of GABAergic synapses onto PCs. Loss of Ca<sub>V</sub>1.3 was not associated with impaired acquisition of delay eyeblink conditioning. Therefore, our data suggest that Ca<sub>V</sub>1.3 expression is important for PC structure but does not affect other measures of cerebellar cortex morphology or cerebellar function as assessed by delay eyeblink conditioning.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"164"},"PeriodicalIF":2.4,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12515208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276498","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
Cognitive Deficits in Spinocerebellar Ataxia Type 2: A Comparative Analysis of Pre-ataxic and Ataxic Stages. 2型脊髓小脑共济失调的认知缺陷:共济失调前和共济失调期的比较分析。
IF 2.4 3区 医学
Cerebellum Pub Date : 2025-10-10 DOI: 10.1007/s12311-025-01918-8
Renata Barreto Tenorio, Andressa Aline Vieira, Walter Oleschko Arruda, Gustavo Leite Franklin, Gustavo da Cunha Ribas, João Filipe de Oliveira, Salmo Raskin, Karla Pattie Figueroa, Stefan M Pulst, Hélio Afonso Ghizoni Teive, Carlos Henrique Ferreira Camargo
{"title":"Cognitive Deficits in Spinocerebellar Ataxia Type 2: A Comparative Analysis of Pre-ataxic and Ataxic Stages.","authors":"Renata Barreto Tenorio, Andressa Aline Vieira, Walter Oleschko Arruda, Gustavo Leite Franklin, Gustavo da Cunha Ribas, João Filipe de Oliveira, Salmo Raskin, Karla Pattie Figueroa, Stefan M Pulst, Hélio Afonso Ghizoni Teive, Carlos Henrique Ferreira Camargo","doi":"10.1007/s12311-025-01918-8","DOIUrl":"https://doi.org/10.1007/s12311-025-01918-8","url":null,"abstract":"<p><p>Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder characterized by cerebellar motor symptoms. The extent and timing of cognitive involvement, particularly in pre-ataxic carriers, remain unclear. To assess cognitive performance across clinical stages of SCA2 and investigate early neurocognitive changes in pre-ataxic individuals. We evaluated 52 genetically confirmed participants from a rural Brazilian cohort: 16 pre-ataxic carriers, 12 symptomatic patients, and 24 intrafamilial controls. A standardized neuropsychological battery assessed global cognition, executive function, memory, visuospatial abilities, attention/working memory, mood, and language. Group comparisons and correlations were adjusted using False Discovery Rate (FDR) correction. Pre-ataxic carriers performed comparably to their intrafamilial controls across all cognitive domains, with no significant group differences except for the FAB total score, and showed no associations with estimated time to disease onset. Executive dysfunction emerged as the most prominent cognitive feature of manifest SCA2 and was more strongly associated with CAG repeat length than with clinical disease markers. In this genetically and environmentally homogeneous cohort, only limited measurable cognitive impairment was observed in pre-ataxic carriers. These findings underscore the importance of longitudinal and multimodal studies to elucidate the timing and underlying mechanisms of cognitive decline in SCA2.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"163"},"PeriodicalIF":2.4,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276570","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 Hemispheric Contribution to the Dynamics of Visuomotor Learning during Interlimb Coordination: Insights from an rTMS Study. 在肢体间协调过程中,小脑半球对视觉运动学习动态的贡献:来自rTMS研究的见解。
IF 2.4 3区 医学
Cerebellum Pub Date : 2025-10-09 DOI: 10.1007/s12311-025-01913-z
Akiyoshi Matsugi, Keisuke Tani, Satoru Nishishita, Naoki Yoshida, Nobuhiko Mori, Koichi Hosomi
{"title":"Cerebellar Hemispheric Contribution to the Dynamics of Visuomotor Learning during Interlimb Coordination: Insights from an rTMS Study.","authors":"Akiyoshi Matsugi, Keisuke Tani, Satoru Nishishita, Naoki Yoshida, Nobuhiko Mori, Koichi Hosomi","doi":"10.1007/s12311-025-01913-z","DOIUrl":"10.1007/s12311-025-01913-z","url":null,"abstract":"<p><p>This study investigated the effects of repetitive transcranial magnetic stimulation (rTMS) over the right cerebellar hemisphere on visuomotor adaptation and interlimb coordination learning. Specifically, we examined the impact of cerebellar stimulation on the acquisition of new visuomotor transformations and subsequent adaptation under interference conditions during a bimanual tracking task. A total of 42 healthy adults performed a bimanual visuomotor tracking task in which the left and right hands controlled horizontal and vertical cursor movements, respectively. The experiment consisted of two phases: (1) an Initial learning phase involving adaptation to a visuomotor transformation, and (2) an Interference adaptation phase, defined as adaptation to a new visuomotor mapping under interference from the previously learned transformation, in which only the right-hand mapping was altered. Participants received either active or sham 1Hz rTMS over the right cerebellar hemisphere before the task. Performance was assessed using tracking error and interlimb error structure measures. Tracking errors decreased over trials in both learning phases. While rTMS had no significant effect during the Initial learning phase, it significantly reduced tracking errors during the Interference adaptation phase. In the active-rTMS group, interlimb error correlation and the directional error slope also declined across trials, suggesting reduced cross-limb interference and enhanced coordination flexibility. These findings suggest that cerebellar rTMS facilitates the adaptation of altered visuomotor mappings, particularly during interference adaptation, by modulating interlimb coordination. The results support the hypothesis that bimanual coordination relies on modular internal models that dynamically interact during motor learning. This study underscores the cerebellum's essential role in optimizing interlimb adaptation, especially under interference adaptation, and highlights the potential of cerebellar neuromodulation for motor rehabilitation.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"162"},"PeriodicalIF":2.4,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253529","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
Enhancing Balance Control in Aging Through Cerebellar Theta-Burst Stimulation. 通过小脑脉冲刺激增强衰老平衡控制。
IF 2.4 3区 医学
Cerebellum Pub Date : 2025-10-08 DOI: 10.1007/s12311-025-01915-x
Ashwini Sansare, Madison Weinrich, Jessica A Bernard, Yuming Lei
{"title":"Enhancing Balance Control in Aging Through Cerebellar Theta-Burst Stimulation.","authors":"Ashwini Sansare, Madison Weinrich, Jessica A Bernard, Yuming Lei","doi":"10.1007/s12311-025-01915-x","DOIUrl":"10.1007/s12311-025-01915-x","url":null,"abstract":"<p><p>The cerebellum undergoes significant age-related changes linked to poor balance in older adults. Although multi-session cerebellar iTBS combined with rehabilitation has been used in some clinical populations, its isolated effects in community-dwelling healthy older adults remain unknown, particularly in context of balance control and underlying cerebellar-motor cortex (M1) interactions. We tested whether a single-session, sham-controlled, cerebellar iTBS-only intervention could modulate balance and cerebellar-motor cortex (M1) interactions in community-dwelling older adults without neurological disease. The effects of cerebellar intermittent theta-burst stimulation (iTBS) on balance control and underlying cerebellar-motor cortex (M1) interactions in this population remain unclear. We investigated whether cerebellar iTBS led to [1] improved standing balance, and [2] changes in cerebellar-M1interactions measured using cerebellar brain inhibition (CBI) in older adults. Forty older adults were randomized to receive Active (n = 20) or Sham (n = 20) iTBS to the right lateral cerebellum. We measured postural sway (95% ellipse area of the center of pressure) during standing and CBI before iTBS and at multiple time points up to 30 min post-stimulation. Compared to sham, a single session of active iTBS reduced postural sway, with balance improvements sustained for at least 30 min post-stimulation. Cerebellar iTBS did not significantly alter CBI. Our results support the neuroplastic potential of the cerebellum as a viable target for therapeutic interventions aimed at improving balance in aging, potentially influencing circuits beyond direct cerebellar-M1 motor pathways.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"161"},"PeriodicalIF":2.4,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12507971/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253560","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
Lateral Cerebellar Theta Burst Stimulation Can Modulate Default Mode Network Connectivity in Autistic Adults. 侧小脑θ波爆发刺激可以调节自闭症成人的默认模式网络连接。
IF 2.4 3区 医学
Cerebellum Pub Date : 2025-09-29 DOI: 10.1007/s12311-025-01912-0
Hsing-Chang Ni, Heng Chien, Chun-Hung Yeh, Michael Cheng, Wei-Cheng Lin, Hsiang-Yuan Lin
{"title":"Lateral Cerebellar Theta Burst Stimulation Can Modulate Default Mode Network Connectivity in Autistic Adults.","authors":"Hsing-Chang Ni, Heng Chien, Chun-Hung Yeh, Michael Cheng, Wei-Cheng Lin, Hsiang-Yuan Lin","doi":"10.1007/s12311-025-01912-0","DOIUrl":"https://doi.org/10.1007/s12311-025-01912-0","url":null,"abstract":"<p><p>Developing effective neuromodulation strategies for core autistic symptoms remains a critical need. The lateral cerebellum, implicated in socio-cognitive functions often affected in autism, represents a promising target for repetitive transcranial magnetic stimulation (rTMS), which has not yet been tested in this population. Here, we report a pilot investigation of the safety, feasibility, and network-level effects of one-session intermittent theta burst stimulation (iTBS, a variant of rTMS; 1200 pulses delivered at 80% active motor threshold with a 15-minute inter-train interval) targeting the right lateral cerebellum (Crus I/II) in 10 autistic adults (7 assigned male, 3 assigned female at birth, aged 19-30 years). All participants tolerated the protocol well, with no severe adverse events and a 100% retention rate. Resting-state functional MRI indicated a significant post-iTBS decrease in functional connectivity within the default-mode network and somatosensory motor network, while other networks remained unchanged. Moreover, idiosyncrasy in functional connectivity within the ventral attention, frontoparietal, default-mode and visual networks significantly decreased after iTBS. These findings suggest that cerebellar iTBS is safe and feasible for autistic adults and may acutely modulate multiple large-scale functional networks in their brain. Future multi-session, sham-controlled trials are warranted to validate these results and investigate whether repeated cerebellar stimulation yields sustained neurobiological or clinical benefits in autism.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"159"},"PeriodicalIF":2.4,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145187525","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
Novel SACS Variants not Recorded in ClinVar Identified in a Chinese Patient with Late-Onset Hereditary Neuropathy: a Case Report and Literature Review. ClinVar未记录的新SACS变异在中国迟发性遗传性神经病患者中发现:病例报告和文献回顾。
IF 2.4 3区 医学
Cerebellum Pub Date : 2025-09-29 DOI: 10.1007/s12311-025-01909-9
Meiyuan Chen, Xiaochuan Wang, Xiaojun Ye, Hongli Fang, Zhihao Wu, Jing Yang, Wenjie Wu, Jinghua Wang
{"title":"Novel SACS Variants not Recorded in ClinVar Identified in a Chinese Patient with Late-Onset Hereditary Neuropathy: a Case Report and Literature Review.","authors":"Meiyuan Chen, Xiaochuan Wang, Xiaojun Ye, Hongli Fang, Zhihao Wu, Jing Yang, Wenjie Wu, Jinghua Wang","doi":"10.1007/s12311-025-01909-9","DOIUrl":"10.1007/s12311-025-01909-9","url":null,"abstract":"<p><p>Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder due to mutations in the SACS gene. While the typical phenotype is characterized by cerebellar ataxia, spasticity, and peripheral neuropathy, more reports are published of atypical and late-onset presentations, also lacking typical cerebellar signs of the disease, which can mimic Charcot-Marie-Tooth disease (CMT). We report a 58-year-old Chinese male with a 12-year history of progressive gait instability and lower limb weakness, who also exhibited retinal degeneration. Remarkably, in contrast to the majority of ARSACS patients, he had no significant spasticity, thus expanding the phenotypic spectrum. Genetic analysis identified a pathogenic compound heterozygous mutation in SACS: a novel frameshift variant (c.178del, p.Asp60ThrfsTer8) in exon 4, unreported in ClinVar, and a missense variant (c.4723 C > T, p.Arg1575Trp) in exon 10, documented in ClinVar with conflicting interpretations. The exceptionally late onset in this patient suggests that the c.178del frameshift may partially preserve sacsin function, thereby delaying disease manifestation. MLPA analysis excluded CMT1/HNPP-related rearrangements, confirming an ARSACS diagnosis. Familial segregation further supported autosomal recessive inheritance, emphasizing the importance of family screening. Given this, our case suggests a potential extended therapeutic window in late-onset ARSACS and may need to be included in future therapeutics efforts, emphasizing the importance of identifying such atypical forms. This observation highlights the importance of thorough genetic testing in achieving a correct diagnosis and providing treatment for patients with undiagnosed progressive ataxia.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"160"},"PeriodicalIF":2.4,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12479607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145187600","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
Article Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Disease. 文章标题:吞咽困难对马查多-约瑟夫病患者生活质量的影响。
IF 2.4 3区 医学
Cerebellum Pub Date : 2025-09-26 DOI: 10.1007/s12311-025-01911-1
Joana Paz Mota, Inês Tello Rodrigues, Ana Filipa Ferreira, Ana Rosa Vieira Melo, Paula Pires, Pedro Lopes, João Vasconcelos, Mafalda Raposo, Manuela Lima
{"title":"Article Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Disease.","authors":"Joana Paz Mota, Inês Tello Rodrigues, Ana Filipa Ferreira, Ana Rosa Vieira Melo, Paula Pires, Pedro Lopes, João Vasconcelos, Mafalda Raposo, Manuela Lima","doi":"10.1007/s12311-025-01911-1","DOIUrl":"https://doi.org/10.1007/s12311-025-01911-1","url":null,"abstract":"<p><p>Dysphagia is a frequent symptom of spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD), being associated with alterations in nutritional intake and hydration, as well as an increased risk of aspiration pneumonia. This study aims to evaluate the impact of self-perceived dysphagia and its relationship with quality of life in SCA3/MJD mutation carriers. 41 SCA3/MJD mutation carriers from the Azorean cohort were recruited. The Swallowing Quality-of-Life Questionnaire (SWAL-QOL), the Eating Assessment Tool (EAT-10), the Functional Oral Intake Scale (FOIS), the Volume-Viscosity Swallow Test (V-VST), the Scale for the Assessment and Rating of Ataxia (SARA), the Inventory of Non-Ataxia Signs (INAS), and the Activities of Daily Living (ADL) were applied. Dysphagia was confirmed in 40% SCA3/MJD patients, whose SWAL-QOL was significantly decreased when compared to participants without dysphagia (p = 0.001). As expected, SCA3/MJD carriers with worse SWAL-QOL showed a high risk of dysphagia (p < 0.01), a worse functional oral intake of food and liquids (p < 0.01) and more severe ataxia (p < 0.01). Additionally, high severity of dysphagia reported on the INAS scale, (p < 0.01) and high frequency of swallowing disorders, perceived by SCA3/MJD carriers (p < 0.01) were observed in SCA3/MJD carriers with worse SWAL-QOL. Our findings confirm that dysphagia negatively impacts the quality of life of SCA3/MJD carriers, highlighting the need for permanent support by specialized healthcare professionals during disease progression. Additionally, we recommend that SCA3/MJD carriers with a score of 1 or higher on both the INAS dysphagia item and the ADL swallowing item be referred for specialized healthcare support in swallowing disorders.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"158"},"PeriodicalIF":2.4,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145151740","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
Longitudinal Study and Characterization of Gait Impairment in a Mouse Model of SCA1. 小鼠SCA1模型步态损伤的纵向研究与表征。
IF 2.4 3区 医学
Cerebellum Pub Date : 2025-09-18 DOI: 10.1007/s12311-025-01910-2
Siddhartha Maharjan, Eliyahu Kochman, Tatiana Gervase, Nina Page, Mannut Singh, Rajveer Singh, Avani Chitnis, Ashka Shah, Sidharth Addepalli, Ria Paradkar, Rishika Chavali, Hana Mir, Anna Zheng, Lydia Steenman, Hannah Shorrock, Andrew Berglund, Vinata Vedam-Mai, Damian Shin
{"title":"Longitudinal Study and Characterization of Gait Impairment in a Mouse Model of SCA1.","authors":"Siddhartha Maharjan, Eliyahu Kochman, Tatiana Gervase, Nina Page, Mannut Singh, Rajveer Singh, Avani Chitnis, Ashka Shah, Sidharth Addepalli, Ria Paradkar, Rishika Chavali, Hana Mir, Anna Zheng, Lydia Steenman, Hannah Shorrock, Andrew Berglund, Vinata Vedam-Mai, Damian Shin","doi":"10.1007/s12311-025-01910-2","DOIUrl":"10.1007/s12311-025-01910-2","url":null,"abstract":"<p><p>Spinocerebellar ataxia 1 (SCA1) is a rare autosomal dominant neurodegenerative disease characterized by impaired gait, coordination, and balance. SCA1 results from an expanded CAG repeat in the Atxn1 gene, inducing protein aggregation and ultimately leading to the degeneration of cerebellar Purkinje cells. Clinical studies have shown that gait impairments, such as changes in stride length (SL), stride time, and stance phase, are seen in patients with cerebellar diseases. The SCA1<sup>154Q/2Q</sup> mouse model reflects the longitudinal progression of SCA1 in humans, displaying motor incoordination, muscle atrophy, and cerebellar Purkinje cell degradation. In this study, we aim to characterize the progression of gait impairments that arise in the SCA1<sup>154Q/2Q</sup> mouse model. The DigiGait™ system, which utilizes ventral plane imaging technology, was used to track gait parameters in SCA<sup>154Q/2Q</sup> mice, beginning at 7 weeks of age until 42 weeks. Our data revealed that SCA<sup>154Q/2Q</sup> males exhibited decreasing gait speeds beginning weeks 15-16 (p < 0.05), and SCA<sup>154Q/2Q</sup> females showed gait speed declining as early as 9 weeks (p < 0.05). A decrease in SL was also found; these emerged at different time points in SCA1<sup>154Q/2Q</sup> mice, ranging from weeks 14 to 32. Our data also suggest that SCA1 mice have decreased loading speed in hindlimbs with lower MAX dA/dt values at weeks 30 and 40 in both males and females (p < 0.01). Our characterization of this model establishes a framework for sex- and age-related differences, as well as a timeline of various gait performance metrics, which provides a foundation to test the efficacy of novel therapeutics.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 6","pages":"157"},"PeriodicalIF":2.4,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145082367","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}
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