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Transcranial Alternating Current Stimulation in a Patient with Ataxia-Ocular Apraxia 2: a Case Report. 经颅交流电刺激治疗共济失调-眼失用症1例。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-11-22 DOI: 10.1007/s12311-023-01637-y
Xiao-Ping Cheng, Wen-Hui Yu, Xia Liu, Wei Lin, Zhao-Di Wang, Xi-Chen Wang, Jun Ni, Nai-Qing Cai, Xin-Yuan Chen
{"title":"Transcranial Alternating Current Stimulation in a Patient with Ataxia-Ocular Apraxia 2: a Case Report.","authors":"Xiao-Ping Cheng, Wen-Hui Yu, Xia Liu, Wei Lin, Zhao-Di Wang, Xi-Chen Wang, Jun Ni, Nai-Qing Cai, Xin-Yuan Chen","doi":"10.1007/s12311-023-01637-y","DOIUrl":"10.1007/s12311-023-01637-y","url":null,"abstract":"<p><p>Ataxia-ocular apraxia 2 (AOA2) is a rare neurodegenerative autosomal recessive disorder with no effective treatment. In this study, we present the case of a patient diagnosed with AOA2, who experienced walking instability and uncoordinated movement. The patient underwent transcranial alternating current stimulation (tACS) treatment for 4 weeks with follow-up after 1 month. The effectiveness of the treatment was evaluated using the International Cooperative Ataxia Rating Scale (ICARS), the Scale for the Assessment and Rating of Ataxia (SARA), the 9-Hole Peg Test (9HPT), and functional near-infrared spectroscopy (fNIRS). Following treatment, the patient's ataxia symptoms showed significant improvement and continued to be alleviated during the follow-up period, suggesting a lasting effect of tACS treatment. Our findings from this case study provide compelling evidence for the potential of tACS as a treatment option for AOA2.</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":"138296475","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
Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland. 爱尔兰遗传性共济失调患者的健康相关生活质量
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-11-27 DOI: 10.1007/s12311-023-01640-3
Poornima Jayadev Menon, Tan Xin Yi, Sharon Moran, Richard A Walsh, Sinéad M Murphy, Petya Bogdanova-Mihaylova
{"title":"Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland.","authors":"Poornima Jayadev Menon, Tan Xin Yi, Sharon Moran, Richard A Walsh, Sinéad M Murphy, Petya Bogdanova-Mihaylova","doi":"10.1007/s12311-023-01640-3","DOIUrl":"10.1007/s12311-023-01640-3","url":null,"abstract":"<p><p>Inherited cerebellar ataxias (CA) are heterogeneous progressive neurological conditions associated with significant functional limitations. This study aimed to assess the implications of inherited CA on patients' self-reported quality of life (QoL) and impairments in work and activities. 129 individuals with ataxia responded to a survey focused on QoL. Health-related QoL was measured using the RAND 36-Item Short Form Survey. An adaptation of the validated Work Productivity and Activity Impairment questionnaire was used to assess the effect of health on work productivity and ability to perform activities over the past week. Nine percent of respondents were currently employed. Individuals with inherited ataxia experienced significant activity impairment, and 75% required professional or informal care. Health-related quality of life (HRQoL) was significantly worse in all areas for the individuals with inherited ataxia compared with Irish population normative values. Participants with Friedreich's ataxia (n = 56) demonstrated worse physical functioning then those with undetermined ataxia (n = 55). Female gender, younger age at symptom onset, current employment, retirement due to age or ataxia, and living in a long-term care facility were associated with higher sub-scores in different domains of HRQoL, while disease duration correlated with worse physical functioning sub-scores. This study is the first cross-sectional study on HRQoL in patients with inherited ataxia in Ireland. It highlights high rates of unemployment, difficulty with daily activities and physical functioning limitations, which is worse than comparative international studies. Given the limited therapeutic options currently available, optimising HRQoL is an important aspect of managing 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":"138446915","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 Neurostimulation for Boosting Social and Affective Functions: Implications for the Rehabilitation of Hereditary Ataxia Patients. 小脑神经刺激用于增强社交和情感功能:对遗传性共济失调患者康复的启示
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2024-01-25 DOI: 10.1007/s12311-023-01652-z
Andrea Ciricugno, Viola Oldrati, Zaira Cattaneo, Maria Leggio, Cosimo Urgesi, Giusy Olivito
{"title":"Cerebellar Neurostimulation for Boosting Social and Affective Functions: Implications for the Rehabilitation of Hereditary Ataxia Patients.","authors":"Andrea Ciricugno, Viola Oldrati, Zaira Cattaneo, Maria Leggio, Cosimo Urgesi, Giusy Olivito","doi":"10.1007/s12311-023-01652-z","DOIUrl":"10.1007/s12311-023-01652-z","url":null,"abstract":"<p><p>Beyond motor deficits, spinocerebellar ataxia (SCA) patients also suffer cognitive decline and show socio-affective difficulties, negatively impacting on their social functioning. The possibility to modulate cerebello-cerebral networks involved in social cognition through cerebellar neurostimulation has opened up potential therapeutic applications for ameliorating social and affective difficulties. The present review offers an overview of the research on cerebellar neurostimulation for the modulation of socio-affective functions in both healthy individuals and different clinical populations, published in the time period 2000-2022. A total of 25 records reporting either transcranial magnetic stimulation (TMS) or transcranial direct current stimulation (tDCS) studies were found. The investigated clinical populations comprised different pathological conditions, including but not limited to SCA syndromes. The reviewed evidence supports that cerebellar neurostimulation is effective in improving social abilities in healthy individuals and reducing social and affective symptoms in different neurological and psychiatric populations associated with cerebellar damage or with impairments in functions that involve the cerebellum. These findings encourage to further explore the rehabilitative effects of cerebellar neurostimulation on socio-affective deficits experienced by patients with cerebellar abnormalities, as SCA patients. Nevertheless, conclusions remain tentative at this stage due to the heterogeneity characterizing stimulation protocols, study methodologies and patients' samples.</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/PMC11269351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139547538","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
Sensorimotor Cough Dysfunction in Cerebellar Ataxias. 小脑共济失调的感觉运动咳嗽功能障碍。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-11-30 DOI: 10.1007/s12311-023-01635-0
Emilie R Lowell, James C Borders, Sarah E Perry, Avery E Dakin, Jordanna S Sevitz, Sheng-Han Kuo, Michelle S Troche
{"title":"Sensorimotor Cough Dysfunction in Cerebellar Ataxias.","authors":"Emilie R Lowell, James C Borders, Sarah E Perry, Avery E Dakin, Jordanna S Sevitz, Sheng-Han Kuo, Michelle S Troche","doi":"10.1007/s12311-023-01635-0","DOIUrl":"10.1007/s12311-023-01635-0","url":null,"abstract":"<p><p>Cerebellar ataxias are neurological conditions with a high prevalence of aspiration pneumonia and dysphagia. Recent research shows that sensorimotor cough dysfunction is associated with airway invasion and dysphagia in other neurological conditions and may increase the risk of pneumonia. Therefore, this study aimed to characterize sensorimotor cough function and its relationship with ataxia severity. Thirty-seven participants with cerebellar ataxia completed voluntary and/or reflex cough testing. Ataxia severity was assessed using the Scale for the Assessment and Rating of Ataxia (SARA). Linear multilevel models revealed voluntary cough peak expiratory flow rate (PEFR) estimates of 2.61 L/s and cough expired volume (CEV) estimates of 0.52 L. Reflex PEFR (1.82 L/s) and CEV (0.34 L) estimates were lower than voluntary PEFR and CEV estimates. Variability was higher for reflex PEFR (15.74% coefficient of variation [CoV]) than voluntary PEFR (12.13% CoV). 46% of participants generated at least two, two-cough responses following presentations of reflex cough stimuli. There was a small inverse relationship between ataxia severity and voluntary PEFR (β = -0.05, 95% CI: -0.09 - -0.01 L) and ataxia severity and voluntary CEV (β = -0.01, 95% CI: -0.02 - -0.004 L/s). Relationships between reflex cough motor outcomes (PEFR β = 0.03, 95% CI: -0.007-0.07 L/s; CEV β = 0.007, 95% CI: -0.004-0.02 L) and ataxia severity were not statistically robust. Results indicate that voluntary and reflex cough sensorimotor dysfunction is present in cerebellar ataxias and that increased severity of ataxia symptoms may impact voluntary cough function.</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/PMC11145628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464162","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
Progression of Retinal Ganglion Cell and Nerve Fiber Layer Loss in Spinocerebellar Ataxia 3 Patients. 脊髓小脑性共济失调患者视网膜神经节细胞进展及神经纤维层丢失3。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-11-30 DOI: 10.1007/s12311-023-01634-1
Anna Camós-Carreras, Marc Figueras-Roca, Marina Dotti-Boada, Rafel Alcubierre, Ricardo Pedro Casaroli-Marano, Esteban Muñoz, Bernardo Sánchez-Dalmau
{"title":"Progression of Retinal Ganglion Cell and Nerve Fiber Layer Loss in Spinocerebellar Ataxia 3 Patients.","authors":"Anna Camós-Carreras, Marc Figueras-Roca, Marina Dotti-Boada, Rafel Alcubierre, Ricardo Pedro Casaroli-Marano, Esteban Muñoz, Bernardo Sánchez-Dalmau","doi":"10.1007/s12311-023-01634-1","DOIUrl":"10.1007/s12311-023-01634-1","url":null,"abstract":"<p><p>Spectral domain optical coherence tomography (SD-OCT) allows noninvasive measurements of retinal neuron layers. Here, we evaluate the relationship between clinical features and anatomical SD-OCT measurements in patients with spinocerebellar ataxia type 3 (SCA3) and how they change with time. A retrospective review was conducted on SCA3 patients. Clinical variables such as disease duration, number of CAG repeats, and the Scale for the Assessment and Rating of Ataxia (SARA) score were correlated with SD-OCT measurements, including retinal nerve fiber layer (RNFL) thickness, ganglion cell complex (GCC) thickness, macular volume (MV), and central macular thickness (CMT). Seventeen SCA3 patients with an average follow-up of 44.9 months were recruited. Clinical features with significant baseline correlations with SD-OCT measurements included disease duration (CMT r =  - 0.590; GCC r =  - 0.585), SARA score (CMT r =  - 0.560; RNFL r =  - 0.390), and number of CAG repeats (MV r =  - 0.552; RNFL r =  - 0.503; GCC r =  - 0.493). The annual rate of change of the SARA score during follow-up was associated with that of both the MV (r =  - 0.494; p = 0.005) and GCC thickness (r =  - 0.454; p = 0.012). High disability (stages 2 and 3) was independently inversely associated with the annual change in MV (ß coefficient - 17.09; p = 0.025). This study provides evidence of an association between clinical features and objective anatomical measurements obtained by SD-OCT in SCA3 patients. MV and GCC thickness could serve as potential biomarkers of disease severity, as their rates of decrease seem to be related to a worsening in the SARA score. These findings highlight the potential of SD-OCT as a noninvasive tool for assessing disease severity and progression in SCA3 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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11269372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464161","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 Role of the Human Cerebellum for Learning from and Processing of External Feedback in Non-Motor Learning: A Systematic Review. 人类小脑在非运动学习中学习和处理外部反馈的作用:系统回顾
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2024-02-20 DOI: 10.1007/s12311-024-01669-y
Adam M Berlijn, Dana M Huvermann, Sandra Schneider, Christian Bellebaum, Dagmar Timmann, Martina Minnerop, Jutta Peterburs
{"title":"The Role of the Human Cerebellum for Learning from and Processing of External Feedback in Non-Motor Learning: A Systematic Review.","authors":"Adam M Berlijn, Dana M Huvermann, Sandra Schneider, Christian Bellebaum, Dagmar Timmann, Martina Minnerop, Jutta Peterburs","doi":"10.1007/s12311-024-01669-y","DOIUrl":"10.1007/s12311-024-01669-y","url":null,"abstract":"<p><p>This review aimed to systematically identify and comprehensively review the role of the cerebellum in performance monitoring, focusing on learning from and on processing of external feedback in non-motor learning. While 1078 articles were screened for eligibility, ultimately 36 studies were included in which external feedback was delivered in cognitive tasks and which referenced the cerebellum. These included studies in patient populations with cerebellar damage and studies in healthy subjects applying neuroimaging. Learning performance in patients with different cerebellar diseases was heterogeneous, with only about half of all patients showing alterations. One patient study using EEG demonstrated that damage to the cerebellum was associated with altered neural processing of external feedback. Studies assessing brain activity with task-based fMRI or PET and one resting-state functional imaging study that investigated connectivity changes following feedback-based learning in healthy participants revealed involvement particularly of lateral and posterior cerebellar regions in processing of and learning from external feedback. Cerebellar involvement was found at different stages, e.g., during feedback anticipation and following the onset of the feedback stimuli, substantiating the cerebellum's relevance for different aspects of performance monitoring such as feedback prediction. Future research will need to further elucidate precisely how, where, and when the cerebellum modulates the prediction and processing of external feedback information, which cerebellar subregions are particularly relevant, and to what extent cerebellar diseases alter these processes.</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/PMC11269477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139914004","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
Horizontal Vestibulo-Ocular Reflex Deficit as a Biomarker for Clinical Disease Onset, Severity, and Progression of Machado-Joseph Disease. 水平前庭-眼球反射缺陷作为马查多-约瑟夫病临床发病、严重程度和病情发展的生物标记。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-03-28 DOI: 10.1007/s12311-023-01552-2
Zohar Elyoseph, Dario Geisinger, Roy Zaltzman, Matti Mintz, Carlos R Gordon
{"title":"Horizontal Vestibulo-Ocular Reflex Deficit as a Biomarker for Clinical Disease Onset, Severity, and Progression of Machado-Joseph Disease.","authors":"Zohar Elyoseph, Dario Geisinger, Roy Zaltzman, Matti Mintz, Carlos R Gordon","doi":"10.1007/s12311-023-01552-2","DOIUrl":"10.1007/s12311-023-01552-2","url":null,"abstract":"<p><p>Because of the crucial importance of finding a useful biomarker for further clinical trials in Machado-Joseph disease (MJD), and based on our previous studies, we aimed to evaluate whether the horizontal vestibulo-ocular reflex (VOR) gain could be a reliable neurophysiological biomarker for the clinical onset, severity, and progression of the disease. Thirty-five MJD patients, 11 pre-symptomatic genetically confirmed MJD subjects, and 20 healthy controls underwent a detailed epidemiological and clinical neurological examination including the Scale for the Assessment and Rating of Ataxia (SARA). Their VOR gain was measured using the video Head Impulse Test system. Twenty of the MJD patients were re-tested after a period of 1-3 years. Horizontal VOR gain was abnormal in 92% of MJD, 54% pre-symptomatic, and 0% healthy controls. Horizontal VOR gain in the MJD group was significantly negatively correlated with SARA score in the first (r=0.66, p<0.001) and second (r=0.61, p<0.001) examinations. There was also a significant negative correlation between the percentage of change in horizontal VOR gain and the percentage of change in SARA score across both examinations (r=-0.54, p < 0.05). A regression model of the SARA score with the horizontal VOR gain and disease duration as predictors demonstrated that both the horizontal VOR gain and the disease duration had an independent contribution to the prediction of the SARA score. The horizontal VOR gain seems to be a reliable biomarker for the clinical onset, severity, and progression of MJD and could be used in further clinical studies.</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":"9198293","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
Progressive Ataxia and Palatal Tremor Is Not Associated with IgLON5 Antibodies: Results From Two Cases. 进行性共济失调和腭震颤与IgLON5抗体无关:两例结果
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-12-07 DOI: 10.1007/s12311-023-01647-w
Andrea Mastrangelo, Maria Pia Giannoccaro, Vincenzo Donadio, Fortuna Ricciardiello, Felice Di Laudo, Flavia Palombo, Rocco Liguori, Giovanni Rizzo
{"title":"Progressive Ataxia and Palatal Tremor Is Not Associated with IgLON5 Antibodies: Results From Two Cases.","authors":"Andrea Mastrangelo, Maria Pia Giannoccaro, Vincenzo Donadio, Fortuna Ricciardiello, Felice Di Laudo, Flavia Palombo, Rocco Liguori, Giovanni Rizzo","doi":"10.1007/s12311-023-01647-w","DOIUrl":"10.1007/s12311-023-01647-w","url":null,"abstract":"<p><p>Progressive ataxia and palatal tremor (PAPT) and anti-IgLON5 disease share possible clinical presentations. Furthermore, both have been associated to a tauopathy mainly affecting the brainstem. Nonetheless, anti-IgLON5 antibodies have never been tested in PAPT. We report on two PAPT cases without evidence of anti-IgLON5 antibodies in both CSF and serum. Despite common clinical and pathological characteristics, PAPT and IgLON5 disease are two distinct entities.</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":"138500068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients. 一系列拉丁美洲患者的脊髓小脑共济失调 19 型表型谱。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2024-01-05 DOI: 10.1007/s12311-023-01654-x
Diana Avila-Jaque, Fernanda Martin, M Leonor Bustamante, Mariana Luna Álvarez, José Manuel Fernández, David José Dávila Ortiz de Montellano, Rosa Pardo, Diego Varela, Marcelo Miranda
{"title":"The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.","authors":"Diana Avila-Jaque, Fernanda Martin, M Leonor Bustamante, Mariana Luna Álvarez, José Manuel Fernández, David José Dávila Ortiz de Montellano, Rosa Pardo, Diego Varela, Marcelo Miranda","doi":"10.1007/s12311-023-01654-x","DOIUrl":"10.1007/s12311-023-01654-x","url":null,"abstract":"<p><p>Spinocerebellar ataxia 19 (SCA19) represents a rare autosomal dominant genetic disorder resulting in progressive ataxia and cerebellar atrophy. SCA19 is caused by variants in the KCND3 gene, which encodes a voltage-gated potassium channel subunit essential for cerebellar Purkinje cell function. We describe six cases from Chile and Mexico, representing the largest report on SCA19 in Latin America. These cases encompass a range of clinical presentations, highlighting the phenotypic variability within SCA19 from an early-onset, severe disease to a late-onset, slowly progressive condition with normal lifespan. While some patients present with pure ataxia, others also show cognitive impairment, dystonia, and other neurological symptoms. The correlations between specific KCND3 variants and phenotypic outcomes are complex and warrant further investigation. As the genomic landscape of spinocerebellar ataxias evolves, comprehensive genetic testing is becoming pivotal in improving diagnostic accuracy. This study contributes to a better understanding of the clinical spectrum of SCA19, laying the groundwork for further genotype-phenotype correlations and functional studies to elucidate the underlying pathophysiology.</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":"139099056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Cerebellum and Cognitive Function: Anatomical Evidence from a Transdiagnostic Sample. 小脑与认知功能:来自跨诊断样本的解剖学证据
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-01 Epub Date: 2023-12-27 DOI: 10.1007/s12311-023-01645-y
Indrit Bègue, Yannis Elandaloussi, Farnaz Delavari, Hengyi Cao, Alexandra Moussa-Tooks, Mathilde Roser, Pierrick Coupé, Marion Leboyer, Stefan Kaiser, Josselin Houenou, Roscoe Brady, Charles Laidi
{"title":"The Cerebellum and Cognitive Function: Anatomical Evidence from a Transdiagnostic Sample.","authors":"Indrit Bègue, Yannis Elandaloussi, Farnaz Delavari, Hengyi Cao, Alexandra Moussa-Tooks, Mathilde Roser, Pierrick Coupé, Marion Leboyer, Stefan Kaiser, Josselin Houenou, Roscoe Brady, Charles Laidi","doi":"10.1007/s12311-023-01645-y","DOIUrl":"10.1007/s12311-023-01645-y","url":null,"abstract":"<p><p>Multiple lines of evidence across human functional, lesion, and animal data point to a cerebellar role, in particular of crus I, crus II, and lobule VIIB, in cognitive function. However, a mapping of distinct facets of cognitive function to cerebellar structure is missing. We analyzed structural neuroimaging data from the Healthy Brain Network (HBN). Cerebellar parcellation was performed with a validated automated segmentation pipeline (CERES) and stringent visual quality check (n = 662 subjects retained from initial n = 1452). Canonical correlation analyses (CCA) examined regional gray matter volumetric (GMV) differences in association to cognitive function (quantified with NIH Toolbox Cognition domain, NIH-TB), accounting for psychopathology severity, age, sex, scan location, and intracranial volume. Multivariate CCA uncovered a significant correlation between two components entailing a latent cognitive canonical (NIH-TB subscales) and a brain canonical variate (cerebellar GMV and intracranial volume, ICV), surviving bootstrapping and permutation procedures. The components correspond to partly shared cerebellar-cognitive function relationship with a first map encompassing cognitive flexibility (r = 0.89), speed of processing (r = 0.65), and working memory (r = 0.52) associated with regional GMV in crus II (r = 0.57) and lobule X (r = 0.59) and a second map including the crus I (r = 0.49) and lobule VI (r = 0.49) associated with working memory (r = 0.51). We show evidence for a structural subspecialization of the cerebellum topography for cognitive function in a transdiagnostic sample.</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/PMC11269336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139049679","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
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