Cerebellum最新文献_第5页

Steroid-Responsive Progressive Subacute Cerebellar Ataxia: An Unrecognized Subtype of Immune-Mediated Ataxia. 类固醇反应进行性亚急性小脑共济失调：免疫介导的共济失调的一种未被识别的亚型。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-04-05 DOI: 10.1007/s12311-025-01829-8

Eun-Hyeok Choi, Ji-Hyung Park, Jeong-Yoon Choi, Ji-Soo Kim

{"title":"Steroid-Responsive Progressive Subacute Cerebellar Ataxia: An Unrecognized Subtype of Immune-Mediated Ataxia.","authors":"Eun-Hyeok Choi, Ji-Hyung Park, Jeong-Yoon Choi, Ji-Soo Kim","doi":"10.1007/s12311-025-01829-8","DOIUrl":"10.1007/s12311-025-01829-8","url":null,"abstract":"Background: Subacute progressive cerebellar ataxia poses a diagnostic challenge due to its wide-ranging etiologies and symptom overlap with acute and chronic cerebellar disorders. Prompt identification and treatment are essential to improve clinical outcomes.Case presentation: A 62-year-old woman presented with worsening vertigo, gait instability, and evolving neurological signs over five months, consistent with a syndrome of subacute progressive cerebellar ataxia. Despite normal findings on serial MRI and PET imaging, as well as negative serological and genetic testing, her recent history of influenza vaccination and clinical progression suggested immune-mediated cerebellitis. High-dose corticosteroid therapy resulted in marked improvement, allowing her to achieve near-complete recovery, with a final diagnosis of autoimmune cerebellar ataxia reached by exclusion.Discussion: Even when imaging findings are unremarkable, it is crucial to recognize immune-mediated cerebellar ataxia in patients with progressive symptoms, particularly following potential triggers such as vaccination. Empirical corticosteroid therapy demonstrated both diagnostic and therapeutic value, facilitating recovery.Conclusion: Subacute cerebellar ataxia with normal imaging requires careful consideration of immune-mediated etiologies. This case demonstrates the potential benefits of corticosteroid therapy in achieving favorable outcomes, even in diagnostically challenging scenarios.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"80"},"PeriodicalIF":2.7,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789368","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

CSF Markers of TG6 Autoimmunity in Gluten Ataxia. 谷蛋白共济失调中TG6自身免疫的CSF标志物。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-04-02 DOI: 10.1007/s12311-025-01832-z

Mara-Luciana Floare, Stephen B Wharton, Julie E Simpson, Daniel Aeschlimann, Marios Hadjivassiliou

{"title":"CSF Markers of TG6 Autoimmunity in Gluten Ataxia.","authors":"Mara-Luciana Floare, Stephen B Wharton, Julie E Simpson, Daniel Aeschlimann, Marios Hadjivassiliou","doi":"10.1007/s12311-025-01832-z","DOIUrl":"10.1007/s12311-025-01832-z","url":null,"abstract":"Gluten ataxia (GA) is the primary neurological manifestation of gluten sensitivity, characterised by loss of Purkinje cells throughout the cerebellar cortex and rooted in autoimmunity to transglutaminase 6 (TG6). Previous studies have shown the contribution of serum anti-TG6 antibodies to disease progression; however, it remains unclear where these antibodies are produced and how they gain access into the brain parenchyma. This study aims to provide an immunological assessment of the CSF in patients with GA to better define the humoral response contributing to disease pathophysiology. In this observational study we assessed the presence of plasma cells in the CSF of 20 patients with GA and 6 controls. CSF from 16 of the GA patients and from all 6 controls was investigated for the presence of anti-TG6 IgA antibodies. Immunohistochemistry for CD138 was performed to assess the presence of plasma cells in the cerebellum and spinal cord of 4 cases with GA, 4 ataxia controls and 4 neurologically healthy controls. A significant increase in anti-TG6 IgA antibodies was detected in the CSF of patients with GA compared to controls, with no correlation between CSF and serum levels of anti-TG6 IgA antibodies for either experimental group. CD138+ cells were present in the CSF of 2 patients with GA and in the cerebellum and spinal cord of 3 post-mortem cases of GA. In a subpopulation of patients with GA intrathecal presence of plasma cells and TG6 antibodies is a feature of the disease, likely associated with prolonged disease duration and continuous exposure to gluten.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"79"},"PeriodicalIF":2.7,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11965251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765770","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

What are the Key Challenges Faced by Spinocerebellar Degeneration and Multiple System Atrophy Patients in Daily Life?: Insights from a Comprehensive Questionnaire Survey in Japan. 脊髓小脑变性和多系统萎缩患者在日常生活中面临的主要挑战是什么？：来自日本综合问卷调查的见解。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-04-01 DOI: 10.1007/s12311-025-01831-0

Yuki Kondo, Akiyoshi Matsugi, Kyota Bando, Yutaka Kikuchi, Hiromi Maruyama, Yuta Miyazaki, Takatoshi Hara, Yuji Takahashi, Hidehiro Mizusawa

{"title":"What are the Key Challenges Faced by Spinocerebellar Degeneration and Multiple System Atrophy Patients in Daily Life?: Insights from a Comprehensive Questionnaire Survey in Japan.","authors":"Yuki Kondo, Akiyoshi Matsugi, Kyota Bando, Yutaka Kikuchi, Hiromi Maruyama, Yuta Miyazaki, Takatoshi Hara, Yuji Takahashi, Hidehiro Mizusawa","doi":"10.1007/s12311-025-01831-0","DOIUrl":"10.1007/s12311-025-01831-0","url":null,"abstract":"Background: Patients with spinocerebellar degeneration (SCD) and multiple system atrophy (MSA) encounter various challenges in daily life due to ataxia and other symptoms. A comprehensive understanding of their diverse needs can improve the effectiveness of rehabilitation interventions.Objective: This study aims to identify the daily challenges faced by patients with SCD and MSA in Japan, focusing on differences between ambulatory and non-ambulatory patients.Methods: A postal survey was conducted from March to May 2023, targeting members of the Japanese Society of Ataxia Patients diagnosed with SCD and MSA. The questionnaire assessed respondent demographics and symptoms impacting daily life.Results: From the 283 responses received, 152 were deemed valid for analysis. Non-ambulatory patients reported significantly more difficulties across multiple items in the activities domain. Furthermore, subjective unsteadiness, difficulty speaking, and increased fall risk were identified as having the most significant impact on daily life, regardless of walking ability.Conclusion: These findings highlight the need to adapt rehabilitation approaches for patients with SCD and MSA as their disease progresses, emphasizing comprehensive assessment methods and multidisciplinary care to enhance their quality of life.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"78"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755868","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

Motor-Cognitive Dual-Task Cost and Associated Micro Lesions of Cerebellum and Brainstem in Multiple System Atrophy (Parkinsonian Type). 运动-认知双任务成本与多系统萎缩（帕金森型）小脑和脑干相关微损伤。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-03-28 DOI: 10.1007/s12311-025-01821-2

Yi Xiao, Shichan Wang, Yanbing Hou, Junyu Lin, Tianmi Yang, Qirui Jiang, Jiyong Liu, Ruwei Ou, Chunyu Li, Huifang Shang

{"title":"Motor-Cognitive Dual-Task Cost and Associated Micro Lesions of Cerebellum and Brainstem in Multiple System Atrophy (Parkinsonian Type).","authors":"Yi Xiao, Shichan Wang, Yanbing Hou, Junyu Lin, Tianmi Yang, Qirui Jiang, Jiyong Liu, Ruwei Ou, Chunyu Li, Huifang Shang","doi":"10.1007/s12311-025-01821-2","DOIUrl":"10.1007/s12311-025-01821-2","url":null,"abstract":"In multiple system atrophy with parkinsonian type (MSA-P), the dual-task cost and the underlying neurological mechanisms remain under-researched. We included 20 early-stage MSA-P patients and 10 matched healthy controls (HC). Using a video-based gait analysis machine, we explored gait characteristics under three conditions: single-task gait (STG), dual-task gait with backward counting (DTG-BC), and dual-task gait with spontaneous animal naming (DTG-SAN). Neuroimaging scans were collected to analyze the gray matter and white matter structures related to the dual-task cost in MSA-P. Our neuroimaging analysis focused on the infratentorial structures, as previous studies have indicated that these regions are closely related to dual-task cost. There were no differences in gait metrics between MSA-P and HC in STG. In the DTG-BC, patients with MSA-P exhibited a higher dual-task cost burden, as indicated by longer turning durations and shorter swing cycles compared to HC. MSA-P patients had decreased gray matter volume in the right culmen and increased radial diffusivity in the left declive compared to HC. Diffusion tensor imaging analysis showed that the higher dual-task cost of the right swing cycle in DTG-BC was related to the higher mean diffusivity of the left mesencephalic locomotor region (MLR). Additionally, a higher dual-task cost of turning duration in DTG-BC was related to increased axial diffusivity and radial diffusivity in the white matter of the bilateral culmen. Patients with MSA-P exhibited a higher dual-task burden compared to HC, and WM deficit in MLR and culmen were related to the disease's specific dual-task cost in MSA-P.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"77"},"PeriodicalIF":2.7,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735687","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

Anti-RGS8 Paraneoplastic Neurologic Syndrome Presenting with Skew Deviation and Mild Cerebellar Dysfunction. 抗rgs8副肿瘤神经综合征，表现为偏斜和轻度小脑功能障碍。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-03-27 DOI: 10.1007/s12311-025-01827-w

Ruben Jauregui, Andrew M Evens, Anastasia Zekeridou, Claude Steriade, Todd Hudson, Gerald T Voelbel, Steven L Galetta, Janet C Rucker

引用次数: 0

Feasibility of Cerebellar Stimulation for the Treatment of Post-Stroke Dysphagia. 小脑刺激治疗中风后吞咽困难的可行性。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-03-26 DOI: 10.1007/s12311-025-01823-0

Gwenllian Wilkinson, Ayodele Sasegbon, Craig J Smith, Philip M Bath, Shaheen Hamdy

{"title":"Feasibility of Cerebellar Stimulation for the Treatment of Post-Stroke Dysphagia.","authors":"Gwenllian Wilkinson, Ayodele Sasegbon, Craig J Smith, Philip M Bath, Shaheen Hamdy","doi":"10.1007/s12311-025-01823-0","DOIUrl":"10.1007/s12311-025-01823-0","url":null,"abstract":"Post-stroke dysphagia (PSD) is common and associated with poor outcomes. We aimed to explore the feasibility, safety, and proof of concept of cerebellar rTMS in patients with sub-acute PSD. We intended to recruit 48 participants with PSD. Randomised to: (i) sham treatment twice-daily for five days, (ii) cerebellar rTMS daily for three days, and (iii) cerebellar rTMS twice-daily for five days (1:1:1). Participants were blinded to treatment group. Primary outcomes were feasibility, safety, and functional outcome intake scale (FOIS), dysphagia severity rating scale (DSRS), and feeding status scale (FSS) at two weeks. However, due to lower-than-expected enrolment, the active rTMS groups were combined. We recruited 14 participants in total, (mean 68 years, 57% female). Due to the time-limited funding period, recruitment was adversely affected by the COVID-19 pandemic. DSRS and FSS trended lower in the combined active rTMS groups at two weeks, i.e. less swallowing impairment. However, at death/discharge FOIS was higher/better (mean, (standard deviation)), 4.0 (2.1) vs. 1.8 (1.0) (p = 0.032) with active TMS, with trends to lower/better DSRS and FSS. There was no difference in the acceptability of treatment between groups. High-intensity (n = 5) vs. low-intensity (n = 5) cerebellar rTMS was associated with lower DSRS 3.0 (1.4) vs. 9.4 (2.7) and FSS 0.6 (0.5) vs. 1.6 (0.5) at 2 weeks, and DSRS 3.0 (1.4) vs. 9.0 (3.7) at hospital discharge or death. Cerebellar rTMS is a feasible ward-based treatment for reducing swallowing impairment. Although enrolment was lower than desired, there was evidence for proof of concept, particularly for high-intensity cerebellar rTMS. Larger studies are warranted.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"74"},"PeriodicalIF":2.7,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11946963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732851","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

Epidemiology of Autosomal Dominant Spinocerebellar Ataxias in Latin America: A Systematic Review and Meta-Analysis. 拉丁美洲常染色体显性脊髓小脑共济失调的流行病学：系统回顾和荟萃分析。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-03-26 DOI: 10.1007/s12311-025-01826-x

Milagros Galecio-Castillo, Jesus Gutierrez-Arratia, Alonso Abad-Murillo, Elison Sarapura-Castro, Ismael Araujo-Aliaga, Ana Saldarriaga-Mayo, Maryenela Illanes-Manrique, Mario Cornejo-Olivas

{"title":"Epidemiology of Autosomal Dominant Spinocerebellar Ataxias in Latin America: A Systematic Review and Meta-Analysis.","authors":"Milagros Galecio-Castillo, Jesus Gutierrez-Arratia, Alonso Abad-Murillo, Elison Sarapura-Castro, Ismael Araujo-Aliaga, Ana Saldarriaga-Mayo, Maryenela Illanes-Manrique, Mario Cornejo-Olivas","doi":"10.1007/s12311-025-01826-x","DOIUrl":"10.1007/s12311-025-01826-x","url":null,"abstract":"The Spinocerebellar Ataxias (SCAs) are a group of autosomal dominant neurodegenerative disorders characterized by progressive cerebellar ataxia, affecting motor coordination. SCAs are reported globally with large geographical and ethnic differences. This systematic review and meta-analysis aimed to update the frequency, and geographic distribution of SCAs in Latin America, including recently identified SCAs like SCA27B. We conducted a systematic search in PubMed, Scopus, LILACS, SciELO, and Web of Science databases, including studies published from inception to January 2025. We included 27 studies for the systematic review and 18 studies for the meta-analysis that met the inclusion criteria, representing a total of 5859 participants across eleven countries. Our meta-analysis revealed that about 50% (95% CI 26-74%) of hereditary ataxias in Latin America were confirmed to have a genetic diagnosis of SCA. The included participants with a known SCA have the following proportions: MJD/SCA3 (15%), SCA2 (11%), SCA7 (4%), SCA10 (3%), and SCA1 (3%). Geographic distributions were notable, MJD/SCA3 in Brazil, SCA2 in Cuba, Argentina and Mexico, SCA10 predominating in Peru, and SCA7 in Venezuela. Recently identified SCA types, like SCA27B and one case of SCA4, were identified in Brazil. In 22 countries there are no published studies on the epidemiology of SCAs. The distribution of SCAs in Latin America reflects the influence of historical migrations, founder effects, and ancestries, emphasizing regional heterogeneity. Our findings underscore the critical need for further epidemiological studies, particularly in understudied countries in the region.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"75"},"PeriodicalIF":2.7,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732850","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

Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders. 钟摆性眼球震颤：ano10相关疾病的新特征。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-03-25 DOI: 10.1007/s12311-025-01828-9

Thiago Yoshinaga Tonholo Silva, Vinícius Lopes Braga, Victor Rebelo Procaci, Luane Abdalla Gouvêa, Leonardo Furtado Freitas, Darine Christina Maia Villela, Michele Patricia Migliavacca, José Ricardo Magliocco Ceroni, André Macedo Serafim Silva, João Bosco Oliveira, Cláudia Ferreira da Rosa Sobreira, Orlando Graziani Povoas Barsottini, José Luiz Pedroso

引用次数: 0

miR-512-3p as a Potential Biomarker of Poor Outcome in Pediatric Medulloblastoma. miR-512-3p 作为小儿髓母细胞瘤不良预后的潜在生物标记物

IF 2.7 3区医学

Cerebellum Pub Date : 2025-03-25 DOI: 10.1007/s12311-025-01812-3

Carolina Alves Pereira Corrêa, Pablo Shimaoka Chagas, Mirella Baroni, Augusto Faria Andrade, Rosane Gomes de Paula Queiroz, Veridiana Kiill Suazo, Gustavo Alencastro Veiga Cruzeiro, Paola Fernanda Fedatto, David Santos Marco Antonio, Silvia Regina Brandalise, José Andres Yunes, Rodrigo Alexandre Panepucci, Carlos Gilberto Carlotti Junior, Ricardo Santos de Oliveira, Luciano Neder, Luiz Gonzaga Tone, Elvis Terci Valera, Carlos Alberto Scrideli

{"title":"miR-512-3p as a Potential Biomarker of Poor Outcome in Pediatric Medulloblastoma.","authors":"Carolina Alves Pereira Corrêa, Pablo Shimaoka Chagas, Mirella Baroni, Augusto Faria Andrade, Rosane Gomes de Paula Queiroz, Veridiana Kiill Suazo, Gustavo Alencastro Veiga Cruzeiro, Paola Fernanda Fedatto, David Santos Marco Antonio, Silvia Regina Brandalise, José Andres Yunes, Rodrigo Alexandre Panepucci, Carlos Gilberto Carlotti Junior, Ricardo Santos de Oliveira, Luciano Neder, Luiz Gonzaga Tone, Elvis Terci Valera, Carlos Alberto Scrideli","doi":"10.1007/s12311-025-01812-3","DOIUrl":"10.1007/s12311-025-01812-3","url":null,"abstract":"The tumorigenesis of medulloblastoma (MB), the most frequent malignant brain tumor in children, is not completely known. MicroRNA (miRNA) expression profiles have been associated with human cancers; however, the role played by miRNAs in pediatric MB has been poorly explored. Global miRNA expression in MB and non-neoplastic cerebellum samples was evaluated by microarray assay. Nine miRNAs (miR-31-5p, -329, -383, -433, -485-3p, -485-5p, -491, -512-3p, and 539-5p) in 51 pediatric MB and 7 pediatric non-neoplastic cerebellum samples were chosen for validation by qRT-PCR. The validated miRNAs were less expressed in the MB samples than in the non-neoplastic controls. In our cohort of patients, higher miR-512-3p expression was associated with incomplete degree of resection, classification as high risk, classification as group 4, and poor overall survival. In silico analysis in an independent cohort of MB patients identified that some of the miR-512-3p target genes were also correlated with prognostic features. Our results have shown that miR-512-3p could be associated with poor clinical outcomes in pediatric MB, suggesting that miR-512-3p is a potential biomarker of prognosis.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"72"},"PeriodicalIF":2.7,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702114","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

Smartphone Application for Spastic Ataxias Cross-Sectional Validation of a Newly Developed Smartphone App for Remote Monitoring in Spastic Ataxias. 痉挛性共济失调的智能手机应用横断面验证新开发的用于远程监测痉挛性共济失调的智能手机应用。

IF 2.7 3区医学

Cerebellum Pub Date : 2025-03-24 DOI: 10.1007/s12311-025-01820-3

Ilse H J Willemse, Sabato Mellone, Carlo Tacconi, Winfried Ilg, Rebecca Schüle, Matthis Synofzik, Jorik H Nonnekes, Bart P C van de Warrenburg

{"title":"Smartphone Application for Spastic Ataxias Cross-Sectional Validation of a Newly Developed Smartphone App for Remote Monitoring in Spastic Ataxias.","authors":"Ilse H J Willemse, Sabato Mellone, Carlo Tacconi, Winfried Ilg, Rebecca Schüle, Matthis Synofzik, Jorik H Nonnekes, Bart P C van de Warrenburg","doi":"10.1007/s12311-025-01820-3","DOIUrl":"10.1007/s12311-025-01820-3","url":null,"abstract":"Effective trial-planning in Spastic ataxias (SPAX) is impeded by the absence of validated outcome measures for detecting longitudinal changes. Digital outcome measures show promise, demonstrating sensitivity to disease severity changes in ataxia and strong correlations with clinical scales. The objective of this study was to develop a smartphone application for SPAX (SPAX-app) to obtain valid digital outcome measures for use in clinical trials. The app contains four tasks assessing gait, standing balance (stance), and finger and hand movements. We carried out a validation study in 22 SPAX patients and 10 controls. Subjects performed the tasks three times during one visit. In parallel, we performed Ambulatory Parkinson's Disease Monitoring (APDM) sensor recordings, Q-motor upper limb assessment, and the Scale for the Assessment and Rating of Ataxia (SARA). Significant correlations were found between the SPAX-app and APDM or Q-motor for step time (r = 0.91), all measures of stance (r = 0.51-0.87) and duration of hand alternation (r = 0.64). No significant correlations were found for variability measures (e.g. standard deviation of step time). All tasks of the SPAX-app, except for stance, can discriminate SPAX from controls and show moderate to high test-retest reliability (ICC 0.67-0.97). Significant correlations were found between SARA and step time (r = 0.70), inter-onset interval in finger tapping (r = 0.57), and duration of hand alternation (r = 0.65). The stance task did not show significant correlations with SARA. With the SPAX-app, we present a set of digital outcome measures for potential use in clinical trials. Longitudinal studies are needed to evaluate whether these measures can track disease progression.","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":"24 3","pages":"71"},"PeriodicalIF":2.7,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702129","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