Cerebellum最新文献

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Female Cerebellum Seems Sociable; An iTBS Investigation. 女性小脑似乎善于交际;一项 iTBS 研究。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-03-26 DOI: 10.1007/s12311-024-01686-x
Fereshteh Kavandi Ghezeljeh, Reza Kazemi, Reza Rostami, Ahmad Zandbagleh, Sanaz Khomami, Fatemeh Rostam Vandi, Abed L Hadipour
{"title":"Female Cerebellum Seems Sociable; An iTBS Investigation.","authors":"Fereshteh Kavandi Ghezeljeh, Reza Kazemi, Reza Rostami, Ahmad Zandbagleh, Sanaz Khomami, Fatemeh Rostam Vandi, Abed L Hadipour","doi":"10.1007/s12311-024-01686-x","DOIUrl":"10.1007/s12311-024-01686-x","url":null,"abstract":"<p><p>The cerebellum has been shown to be engaged in tasks other than motor control, including cognitive and affective functions. Prior neuroimaging studies have documented the role of this area in social cognition and despite these findings, no studies have yet examined the causal relationship between the cerebellum and social cognition. This study aimed to investigate the role of the cerebellum in empathy and theory of mind (ToM) in a randomized, placebo-controlled, double-blind, parallel study. 32 healthy participants were assigned to either a sham or active group. For the active group, an intermittent theta-burst stimulation (iTBS) protocol at 100% of the motor threshold was applied to the cerebellum, while the control group received sham stimulation. An eyes-closed EEG session, the Empathy Quotient (EQ) test, and the Reading the Mind in the Eyes Test (RMET) were administered before and after the iTBS session. The results demonstrated differences in cognitive empathy, ToM, and a decrease in the activity of the default mode network (DMN) between the active and sham groups in females. Females also showed a decrease in the activity of the affective empathy network and connectivity in the DMN. We conclude that cognitive empathy and ToM are associated with cerebellar activity, and due to sex-related differences in the cortical organization of this area which is modulated by sex hormones, the stimulation of the cerebellum in males and females yields different results.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140295182","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
Disentangling Cerebellar and Parietal Contributions to Gait and Body Schema: A Repetitive Transcranial Magnetic Stimulation Study. 小脑和顶叶对步态和身体图式的贡献:重复性经颅磁刺激研究。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-03-05 DOI: 10.1007/s12311-024-01678-x
Margherita Bertuccelli, Patrizia Bisiacchi, Alessandra Del Felice
{"title":"Disentangling Cerebellar and Parietal Contributions to Gait and Body Schema: A Repetitive Transcranial Magnetic Stimulation Study.","authors":"Margherita Bertuccelli, Patrizia Bisiacchi, Alessandra Del Felice","doi":"10.1007/s12311-024-01678-x","DOIUrl":"10.1007/s12311-024-01678-x","url":null,"abstract":"<p><p>The overlap between motor and cognitive signs resulting from posterior parietal cortex (PPC) and cerebellar lesions can mask their relative contribution in the sensorimotor integration process. This study aimed to identify distinguishing motor and cognitive features to disentangle PPC and cerebellar involvement in two sensorimotor-related functions: gait and body schema representation. Thirty healthy volunteers were enrolled and randomly assigned to PPC or cerebellar stimulation. Sham stimulation and 1 Hz-repetitive-Transcranial-Magnetic-Stimulation were delivered over P3 or cerebellum before a balance and a walking distance estimation task. Each trial was repeated with eyes open (EO) and closed (EC). Eight inertial measurement units recorded spatiotemporal and kinematic variables of gait. Instability increased in both groups after real stimulation: PPC inhibition resulted in increased instability in EC conditions, as evidenced by increased ellipse area and range of movement in medio-lateral and anterior-posterior (ROMap) directions. Cerebellar inhibition affected both EC (increased ROMap) and EO stability (greater displacement of the center of mass). Inhibitory stimulation (EC vs. EO) affected also gait spatiotemporal variability, with a high variability of ankle and knee angles plus different patterns in the two groups (cerebellar vs parietal). Lastly, PPC group overestimates distances after real stimulation (EC condition) compared to the cerebellar group. Stability, gait variability, and distance estimation parameters may be useful clinical parameters to disentangle cerebellar and PPC sensorimotor integration deficits. Clinical differential diagnosis efficiency can benefit from this methodological approach.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489286/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029504","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 Effect of Nucleo-Olivary Stimulation on Climbing Fiber EPSPs in Purkinje Cells. 核-唾液刺激对浦肯野细胞爬行纤维 EPSPs 的影响
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-03-11 DOI: 10.1007/s12311-024-01682-1
Josefine Öhman, Elias Sjölin, Maurizio Cundari, Fredrik Johansson, Mike Gilbert, Henk-Jan Boele, Pär Svensson, Anders Rasmussen
{"title":"The Effect of Nucleo-Olivary Stimulation on Climbing Fiber EPSPs in Purkinje Cells.","authors":"Josefine Öhman, Elias Sjölin, Maurizio Cundari, Fredrik Johansson, Mike Gilbert, Henk-Jan Boele, Pär Svensson, Anders Rasmussen","doi":"10.1007/s12311-024-01682-1","DOIUrl":"10.1007/s12311-024-01682-1","url":null,"abstract":"<p><p>Climbing fibers, connecting the inferior olive and Purkinje cells, form the nervous system's strongest neural connection. These fibers activate after critical events like motor errors or anticipation of rewards, leading to bursts of excitatory postsynaptic potentials (EPSPs) in Purkinje cells. The number of EPSPs is a crucial variable when the brain is learning a new motor skill. Yet, we do not know what determines the number of EPSPs. Here, we measured the effect of nucleo-olivary stimulation on periorbital elicited climbing fiber responses through in-vivo intracellular Purkinje cell recordings in decerebrated ferrets. The results show that while nucleo-olivary stimulation decreased the probability of a response occurring at all, it did not reduce the number of EPSPs. The results suggest that nucleo-olivary stimulation does not influence the number of EPSPs in climbing fiber bursts.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489192/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140102760","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
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1. GRM1中两种新的移帧变体引起的常染色体隐性棘角性共济失调13(SCAR13)的严重神经发育障碍。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2023-10-13 DOI: 10.1007/s12311-023-01617-2
Carlo Alberto Cesaroni, Giulia Pisanò, Gabriele Trimarchi, Stefano Giuseppe Caraffi, Giulia Scandolo, Martina Gnazzo, Daniele Frattini, Carlotta Spagnoli, Susanna Rizzi, Claudia Dittadi, Giulia Sigona, Livia Garavelli, Carlo Fusco
{"title":"Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.","authors":"Carlo Alberto Cesaroni, Giulia Pisanò, Gabriele Trimarchi, Stefano Giuseppe Caraffi, Giulia Scandolo, Martina Gnazzo, Daniele Frattini, Carlotta Spagnoli, Susanna Rizzi, Claudia Dittadi, Giulia Sigona, Livia Garavelli, Carlo Fusco","doi":"10.1007/s12311-023-01617-2","DOIUrl":"10.1007/s12311-023-01617-2","url":null,"abstract":"<p><p>Autosomal recessive spinocerebellar ataxia 13 (SCAR13) is a neurological disease characterized by psychomotor delay, mild to profound intellectual disability with poor or absent language, nystagmus, stance ataxia, and, if walking is acquired, gait ataxia. Epilepsy and polyneuropathy have also been documented in some patients. Cerebellar atrophy and/or ventriculomegaly may be present on brain MRI. SCAR13 is caused by pathogenic variants in the GRM1 gene encoding the metabotropic receptor of glutamate type 1 (mGlur1), which is highly expressed in Purkinje cerebellar cells, where it plays a fundamental role in cerebellar development. Here we discuss the case of an 8-year-old patient who presented with a severe neurodevelopmental disorder with balance disturbance, absence of independent walking, absence of language, diffuse hypotonia, mild nystagmus, and mild dysphagia. Whole-exome sequencing revealed a compound heterozygosity for two likely pathogenic variants in the GRM1 gene, responsible for the patient's phenotype, and made it possible to diagnose autosomal recessive spinocerebellar ataxia SCAR13. The detected (novel) variants appear to be causative of a particularly severe picture with regard to neurodevelopment, in the context of the typical neurological signs of spinocerebellar ataxia.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41219221","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 Nuclei Receiving Orofacial Proprioceptive Signals through the Mossy Fiber Pathway from the Supratrigeminal Nucleus in Rats. 大鼠小脑核通过膝上核苔藓纤维通路接收口面本体感觉信号。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2023-09-08 DOI: 10.1007/s12311-023-01602-9
Yumi Tsutsumi, Yayoi Morita, Fumihiko Sato, Takahiro Furuta, Katsuro Uchino, Jaerin Sohn, Tahsinul Haque, Yong Chul Bae, Hitoshi Niwa, Yoshihisa Tachibana, Atsushi Yoshida
{"title":"Cerebellar Nuclei Receiving Orofacial Proprioceptive Signals through the Mossy Fiber Pathway from the Supratrigeminal Nucleus in Rats.","authors":"Yumi Tsutsumi, Yayoi Morita, Fumihiko Sato, Takahiro Furuta, Katsuro Uchino, Jaerin Sohn, Tahsinul Haque, Yong Chul Bae, Hitoshi Niwa, Yoshihisa Tachibana, Atsushi Yoshida","doi":"10.1007/s12311-023-01602-9","DOIUrl":"10.1007/s12311-023-01602-9","url":null,"abstract":"<p><p>Proprioception from muscle spindles is necessary for motor function executed by the cerebellum. In particular, cerebellar nuclear neurons that receive proprioceptive signals and send projections to the lower brainstem or spinal cord play key roles in motor control. However, little is known about which cerebellar nuclear regions receive orofacial proprioception. Here, we investigated projections to the cerebellar nuclei from the supratrigeminal nucleus (Su5), which conveys the orofacial proprioception arising from jaw-closing muscle spindles (JCMSs). Injections of an anterograde tracer into the Su5 resulted in a large number of labeled axon terminals bilaterally in the dorsolateral hump (IntDL) of the cerebellar interposed nucleus (Int) and the dorsolateral protuberance (MedDL) of the cerebellar medial nucleus. In addition, a moderate number of axon terminals were ipsilaterally labeled in the vestibular group Y nucleus (group Y). We electrophysiologically detected JCMS proprioceptive signals in the IntDL and MedDL. Retrograde tracing analysis confirmed bilateral projections from the Su5 to the IntDL and MedDL. Furthermore, anterograde tracer injections into the external cuneate nucleus (ECu), which receives other proprioceptive input from forelimb/neck muscles, resulted in only a limited number of ipsilaterally labeled terminals, mainly in the dorsomedial crest of the Int and the group Y. Taken together, the Su5 and ECu axons almost separately terminated in the cerebellar nuclei (except for partial overlap in the group Y). These data suggest that orofacial proprioception is differently processed in the cerebellar circuits in comparison to other body-part proprioception, thus contributing to the executive function of orofacial motor control.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10184603","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
Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia. 脊髓小脑共济失调的共济失调评估和评级的改良功能量表(f-SARA)工具的内容有效性。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-05-07 DOI: 10.1007/s12311-024-01700-2
Michele Potashman, Katja Rudell, Ivanna Pavisic, Naomi Suminski, Rinchen Doma, Maggie Heinrich, Linda Abetz-Webb, Melissa Wolfe Beiner, Sheng-Han Kuo, Liana S Rosenthal, Theresa Zesiwicz, Terry D Fife, Bart P van de Warrenburg, Giovanni Ristori, Matthis Synofzik, Susan Perlman, Jeremy D Schmahmann, Gilbert L'Italien
{"title":"Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia.","authors":"Michele Potashman, Katja Rudell, Ivanna Pavisic, Naomi Suminski, Rinchen Doma, Maggie Heinrich, Linda Abetz-Webb, Melissa Wolfe Beiner, Sheng-Han Kuo, Liana S Rosenthal, Theresa Zesiwicz, Terry D Fife, Bart P van de Warrenburg, Giovanni Ristori, Matthis Synofzik, Susan Perlman, Jeremy D Schmahmann, Gilbert L'Italien","doi":"10.1007/s12311-024-01700-2","DOIUrl":"10.1007/s12311-024-01700-2","url":null,"abstract":"<p><p>The functional Scale for the Assessment and Rating of Ataxia (f-SARA) assesses Gait, Stance, Sitting, and Speech. It was developed as a potentially clinically meaningful measure of spinocerebellar ataxia (SCA) progression for clinical trial use. Here, we evaluated content validity of the f-SARA. Qualitative interviews were conducted among individuals with SCA1 (n = 1) and SCA3 (n = 6) and healthcare professionals (HCPs) with SCA expertise (USA, n = 5; Europe, n = 3). Interviews evaluated symptoms and signs of SCA and relevance of f-SARA concepts for SCA. HCP cognitive debriefing was conducted. Interviews were recorded, transcribed, coded, and analyzed by ATLAS.TI software. Individuals with SCA1 and 3 reported 85 symptoms, signs, and impacts of SCA. All indicated difficulties with walking, stance, balance, speech, fatigue, emotions, and work. All individuals with SCA1 and 3 considered Gait, Stance, and Speech relevant f-SARA concepts; 3 considered Sitting relevant (42.9%). All HCPs considered Gait and Speech relevant; 5 (62.5%) indicated Stance was relevant. Sitting was considered a late-stage disease indicator. Most HCPs suggested inclusion of appendicular items would enhance clinical relevance. Cognitive debriefing supported clarity and comprehension of f-SARA. Maintaining current abilities on f-SARA items for 1 year was considered meaningful for most individuals with SCA1 and 3. All HCPs considered meaningful changes as stability in f-SARA score over 1-2 years, 1-2-point change in total f-SARA score, and deviation from natural history. These results support content validity of f-SARA for assessing SCA disease progression in clinical trials.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140870953","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 Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model. 脊髓小脑共济失调 34 致病基因 W246G ELOVL4 突变不会改变大鼠模型中的小脑神经元群落
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-06-08 DOI: 10.1007/s12311-024-01708-8
Jennifer L Fessler, Megan A Stiles, Martin-Paul Agbaga, Mohiuddin Ahmad, David M Sherry
{"title":"The Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model.","authors":"Jennifer L Fessler, Megan A Stiles, Martin-Paul Agbaga, Mohiuddin Ahmad, David M Sherry","doi":"10.1007/s12311-024-01708-8","DOIUrl":"10.1007/s12311-024-01708-8","url":null,"abstract":"<p><p>Spinocerebellar ataxia 34 (SCA34) is an autosomal dominant disease that arises from point mutations in the fatty acid elongase, Elongation of Very Long Chain Fatty Acids 4 (ELOVL4), which is essential for the synthesis of Very Long Chain-Saturated Fatty Acids (VLC-SFA) and Very Long Chain-Polyunsaturated Fatty Acids (VLC-PUFA) (28-34 carbons long). SCA34 is considered a neurodegenerative disease. However, a novel rat model of SCA34 (SCA34-KI rat) with knock-in of the W246G ELOVL4 mutation that causes human SCA34 shows early motor impairment and aberrant synaptic transmission and plasticity without overt neurodegeneration. ELOVL4 is expressed in neurogenic regions of the developing brain, is implicated in cell cycle regulation, and ELOVL4 mutations that cause neuroichthyosis lead to developmental brain malformation, suggesting that aberrant neuron generation due to ELOVL4 mutations might contribute to SCA34. To test whether W246G ELOVL4 altered neuronal generation or survival in the cerebellum, we compared the numbers of Purkinje cells, unipolar brush cells, molecular layer interneurons, granule and displaced granule cells in the cerebellum of wildtype, heterozygous, and homozygous SCA34-KI rats at four months of age, when motor impairment is already present. An unbiased, semi-automated method based on Cellpose 2.0 and ImageJ was used to quantify neuronal populations in cerebellar sections immunolabeled for known neuron-specific markers. Neuronal populations and cortical structure were unaffected by the W246G ELOVL4 mutation by four months of age, a time when synaptic and motor dysfunction are already present, suggesting that SCA34 pathology originates from synaptic dysfunction due to VLC-SFA deficiency, rather than aberrant neuronal production or neurodegeneration.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141293893","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
Plasmapheresis and IVIG for Treatment of Non-Tumor Anti-Tr/DNER Antibody-Associated Ataxia: A Case Report. 血浆置换和 IVIG 用于治疗非肿瘤抗 Tr/DNER 抗体相关共济失调:病例报告。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-06-14 DOI: 10.1007/s12311-024-01711-z
Armin Adibi, Ali Rastegar-Kashkouli, Pourya Yousefi, Iman Adibi, Elahe Ahmadi, Saba Naghavi
{"title":"Plasmapheresis and IVIG for Treatment of Non-Tumor Anti-Tr/DNER Antibody-Associated Ataxia: A Case Report.","authors":"Armin Adibi, Ali Rastegar-Kashkouli, Pourya Yousefi, Iman Adibi, Elahe Ahmadi, Saba Naghavi","doi":"10.1007/s12311-024-01711-z","DOIUrl":"10.1007/s12311-024-01711-z","url":null,"abstract":"<p><p>Autoimmune cerebellar ataxia (ACA) is a condition characterized by progressive ataxia resulting from an immune-mediated attack on cerebellar structures. The presence of anti-Tr/DNER antibodies, strongly associated with Hodgkin lymphoma, has been identified in ACA. However, cases with no underlying malignancy are rare. We report the case of a 49-year-old woman presenting with progressive ataxia, slurred speech, and dizziness over three months. The patient exhibited significant cerebellar symptoms, including dysarthria and limb ataxia, without signs of other systemic illnesses. Comprehensive investigations, including imaging, lumbar puncture, and autoantibody testing, were performed. The cerebrospinal fluid (CSF) sample revealed positivity for Tr/DNER antibodies, leading to a diagnosis of autoimmune cerebellar ataxia. The patient underwent nine sessions of plasmapheresis, followed by six doses of intravenous immunoglobulin (IVIG), resulting in significant clinical improvement. Despite extensive cancer screening, no underlying malignancy was detected, suggesting a non-tumor origin of anti-Tr/DNER antibodies. The patient's gait improved, ataxia resolved, and cerebellar tests normalized following treatment. The patient was further managed with rituximab treatment every six months. This case represents a presentation of anti-Tr/DNER-associated autoimmune cerebellar ataxia without malignancy. The successful treatment with plasmapheresis and IVIG suggests that these interventions may be effective in managing autoimmune cerebellar ataxia associated with anti-Tr/DNER antibodies. Further research is needed to understand the underlying mechanisms of this condition and to determine the optimal treatment strategies.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141318913","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
Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype. 脊髓小脑共济失调 2 型睡眠微结构的脑部结构相关性及其对临床表型的作用
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-03-04 DOI: 10.1007/s12311-024-01674-1
Roberto Rodríguez-Labrada, Nalia Canales-Ochoa, Maria de Lourdes Galicia-Polo, Edilia Cruz-Rivas, Sandro Romanzetti, Arnoy Peña-Acosta, Annelié Estupiñán-Rodríguez, Yaimeé Vázquez-Mojena, Imis Dogan, Georg Auburger, Kathrin Reetz, Luis Velázquez-Pérez
{"title":"Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype.","authors":"Roberto Rodríguez-Labrada, Nalia Canales-Ochoa, Maria de Lourdes Galicia-Polo, Edilia Cruz-Rivas, Sandro Romanzetti, Arnoy Peña-Acosta, Annelié Estupiñán-Rodríguez, Yaimeé Vázquez-Mojena, Imis Dogan, Georg Auburger, Kathrin Reetz, Luis Velázquez-Pérez","doi":"10.1007/s12311-024-01674-1","DOIUrl":"10.1007/s12311-024-01674-1","url":null,"abstract":"<p><p>The influence of brain atrophy on sleep microstructure in Spinocerebellar Ataxias (SCAs) has not been extensively explored limiting the use of these sleep traits as surrogate biomarkers of neurodegeneration and clinical phenotype. The objective of the study is to explore the relationship between sleep microstructure and brain atrophy in SCA2 and its role in the clinical phenotype. Fourteen SCA2 mutation carriers (7 pre-manifest and 7 manifest subjects) underwent polysomnographic, structural MRI, and clinical assessments. Particularly, markers of REM and non-REM sleep microstructure, measures of cerebellar and brainstem atrophy, and clinical scores were analyzed through correlation and mediation analyses. The sleep spindle activity exhibited a negative correlation with the number of trials required to complete the verbal memory test (VMT), and a positive correlation with the cerebellar volume, but the significance of the latter correlation did not survive multiple testing corrections. However, the causal mediation analyses unveiled that sleep spindle activity significantly mediates the association between cerebellar atrophy and VMT performance. Regarding REM sleep, both phasic EMG activity and REM sleep without atonia exhibited significant associations with pontine atrophy and disease severity measures. However, they did not demonstrate a causal mediation effect between the atrophy measures and disease severity. Our study provides evidence about the association of the pontocerebellar atrophy with sleep microstructure in SCA2 offering insights into the cerebellar involvement in cognition via the control of the sleep spindle activity. Therefore, our findings may help to understand the disease pathogenesis and to better characterize sleep microstructure parameters as disease biomarkers.Clinical trial registration number (TRN): No applicable.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029505","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
Gravity-Dependent Modulation of Downbeat Nystagmus and Subjective Visual Vertical in the Roll Plane. 重力对滚动平面上的下拍眼球震颤和主观视觉垂直度的调节。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-10-01 Epub Date: 2024-03-18 DOI: 10.1007/s12311-024-01685-y
Stefan Macher, Daniela Dunkler, Anuscha Theresa Fiehl, Paulus Stefan Rommer, Kirsten Platho-Elwischger, Felix Konstantin Schwarz, Gerald Wiest
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