Cerebellum最新文献

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Development of Extubation Success Prediction Model for Mechanically Ventilated Patients with Spontaneous Cerebellar Hemorrhage. 自发性小脑出血机械通气患者拔管成功率预测模型的开发
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-09-02 DOI: 10.1007/s12311-024-01737-3
Yao Jiang, Yue Yu, Jing Fan, Lei Zhang, Yang Ye, Ying-Hong Hu, Li-da Su
{"title":"Development of Extubation Success Prediction Model for Mechanically Ventilated Patients with Spontaneous Cerebellar Hemorrhage.","authors":"Yao Jiang, Yue Yu, Jing Fan, Lei Zhang, Yang Ye, Ying-Hong Hu, Li-da Su","doi":"10.1007/s12311-024-01737-3","DOIUrl":"https://doi.org/10.1007/s12311-024-01737-3","url":null,"abstract":"<p><p>Spontaneous cerebellar hemorrhage (SCH) patients have a low success rate in extubation, but there are currently no guidelines establishing specifically for SCH patients extubation. The study included 68 SCH patients who received mechanical ventilation for more than 24 h, with 39 cases (57.3%) resulting in successful extubation. The multivariate analysis identified four factors significantly associated with extubation success: patient age under 66 years, an Intracerebral Hemorrhage (ICH) score less than 4 points, the presence of tissue shift, and a Glasgow Coma Scale (GCS) score (excluding language) above 6 points at extubation. By simplifying the prediction model, we obtained the Spontaneous Cerebellar Hemorrhage Extubation Success scoring system (SCHES-SCORE). Within the scoring system, 2 points were allocated for a GCS score (excluding language) above 6 at extubation, 1 point each for age under 66 years and an ICH score below 4, while tissue shift was assigned a negative point. A score of Grade A (SCHES-SCORE = 3-4) was found to correlate with a 92.9% success rate for extubation. The area under the receiver operating characteristic curve was 0.923 (95% CI, 0.863 to 0.983). Notably, successful extubation was significantly linked to reduced durations of mechanical ventilation, intensive care unit (ICU) stay, and total hospital stay. In conclusion, the scoring system developed for assessing extubation outcomes in SCH patients has the potential to enhance the rate of successful extubation and overall patient outcomes.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114437","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
Postmortem Fatty Acid Abnormalities in the Cerebellum of Patients with Essential Tremor. 本质性震颤患者小脑中的死后脂肪酸异常
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-31 DOI: 10.1007/s12311-024-01736-4
Mélissa Simard, Koralie Mélançon, Line Berthiaume, Cyntia Tremblay, Laura Pshevorskiy, Pierre Julien, Ali H Rajput, Alex Rajput, Frédéric Calon
{"title":"Postmortem Fatty Acid Abnormalities in the Cerebellum of Patients with Essential Tremor.","authors":"Mélissa Simard, Koralie Mélançon, Line Berthiaume, Cyntia Tremblay, Laura Pshevorskiy, Pierre Julien, Ali H Rajput, Alex Rajput, Frédéric Calon","doi":"10.1007/s12311-024-01736-4","DOIUrl":"https://doi.org/10.1007/s12311-024-01736-4","url":null,"abstract":"<p><p>Fatty acids play many critical roles in brain function but have not been investigated in essential tremor (ET), a frequent movement disorder suspected to involve cerebellar dysfunction. Here, we report a postmortem comparative analysis of fatty acid profiles by gas chromatography in the cerebellar cortex from ET patients (n = 15), Parkinson's disease (PD) patients (n = 15) and Controls (n = 17). Phosphatidylcholine (PC), phosphatidylethanolamine (PE) and phosphatidylinositol (PI)/ phosphatidylserine (PS) were separated by thin-layer chromatography and analyzed separately. First, the total amounts of fatty acids retrieved from the cerebellar cortex were lower in ET patients compared with PD patients, including monounsaturated (MUFA) and polyunsaturated fatty acids (PUFA). The diagnosis of ET was associated with lower cerebellar levels of saturated fatty acids (SFA) and PUFA (DHA and ARA) in the PE fraction specifically, but with a higher relative content of dihomo-γ-linolenic acid (DGLA; 20:3 ω-6) in the PC fraction. In contrast, a diagnosis of PD was associated with higher absolute concentrations of SFA, MUFA and ω-6 PUFA in the PI + PS fractions. However, relative PI + PS contents of ω-6 PUFA were lower in both PD and ET patients. Finally, linear regression analyses showed that the ω-3:ω-6 PUFA ratio was positively associated with age of death, but inversely associated with insoluble α-synuclein. Although it remains unclear how these FA changes in the cerebellum are implicated in ET or PD pathophysiology, they may be related to an ongoing neurodegenerative process or to dietary intake differences. The present findings provide a window of opportunity for lipid-based therapeutic nutritional intervention.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114439","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
Differential Effects of Continuous Theta Burst Stimulation over the Bilateral and Unilateral Cerebellum on Working Memory. 连续θ脉冲刺激双侧和单侧小脑对工作记忆的不同影响
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-31 DOI: 10.1007/s12311-024-01738-2
Guilan Huang, Xin Wang, Tingni Li, Yi Xu, Yiyang Sheng, Hewei Wang, Li Bian, Kai Zheng, Xinlei Xu, Guofu Zhang, Bin Su, Caili Ren
{"title":"Differential Effects of Continuous Theta Burst Stimulation over the Bilateral and Unilateral Cerebellum on Working Memory.","authors":"Guilan Huang, Xin Wang, Tingni Li, Yi Xu, Yiyang Sheng, Hewei Wang, Li Bian, Kai Zheng, Xinlei Xu, Guofu Zhang, Bin Su, Caili Ren","doi":"10.1007/s12311-024-01738-2","DOIUrl":"https://doi.org/10.1007/s12311-024-01738-2","url":null,"abstract":"<p><p>Recent functional MRI studies have implicated the cerebellum in working memory (WM) alongside the prefrontal cortex. Some findings indicate that the right cerebellum is activated during verbal tasks, while the left is engaged during visuospatial tasks, suggesting cerebellar lateralization in WM function. The cerebellum could be a potential target for non-invasive brain stimulation (NIBS) to enhance WM function in cognitive disorders. However, the comprehensive influence of cerebellar lateralization on different types of WM and the effect of stimulation over the unilateral or bilateral cerebellum remain uncertain. This study was to investigate the cerebellum's functional lateralization and its specific impact on various aspects of WM in a causal manner using unilateral or bilateral cerebellar continuous theta burst stimulation (cTBS), a form of inhibitroy NIBS. Twenty-four healthy participants underwent four sessions of cTBS targeting the left, right, or bilateral Crus I of the cerebellum, or a sham condition, in a controlled cross-over design. WM performance was assessed pre- and post-stimulation using neuropsychological tests, including the 3-back task, spatial WM task, and digit span task. Results indicated that cTBS over the bilateral and right cerebellum both led to a greater improvement in 3-back task performance compared to sham stimulation. Additionally, active cTBS over the bilateral cerebellum yielded better performance in the spatial WM task than sham stimulation. However, no significant differences were observed between stimulation conditions for the auditory digit span task. This study may provide novel causal evidence highlighting the specific involvement of the right and bilateral cerebellum in various types of WM. Specifically, the right cerebellum appears crucial for updating and tracking 3-back WM content, while spatial WM processes require the coordinated engagement of both cerebellar hemispheres.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114438","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
Polyneuropathy in Patients with Spinocerebellar Ataxias Types 2, 3, and 10: A Systematic Review. 脊髓小脑性共济失调 2、3 和 10 型患者的多发性神经病:系统综述
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-29 DOI: 10.1007/s12311-024-01730-w
André Eduardo de Almeida Franzoi, Gustavo Figueiredo da Silva, Eduardo de Souza Somensi, Marcelo Henrique de Moura Campos, Giulia Murillo Wollmann, Otto Jesus Hernandez Fustes, Gustavo Lenci Marques, Helio Afonso Ghizoni Teive
{"title":"Polyneuropathy in Patients with Spinocerebellar Ataxias Types 2, 3, and 10: A Systematic Review.","authors":"André Eduardo de Almeida Franzoi, Gustavo Figueiredo da Silva, Eduardo de Souza Somensi, Marcelo Henrique de Moura Campos, Giulia Murillo Wollmann, Otto Jesus Hernandez Fustes, Gustavo Lenci Marques, Helio Afonso Ghizoni Teive","doi":"10.1007/s12311-024-01730-w","DOIUrl":"https://doi.org/10.1007/s12311-024-01730-w","url":null,"abstract":"<p><p>Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with a low prevalence, for which more than 50 types have been described. This group of neurodegenerative diseases can present as different phenotypes with varying progression rates and clinical manifestations of different severities. Herein, we systematically reviewed existing medical literature to describe the main characteristics of polyneuropathy in patients with SCA types 2, 3, and 10. Using relevant keywords, 16,972 articles were identified from the databases. Of these, 5,329 duplicate studies were excluded before screening. Subsequently, 11,643 studies underwent title and abstract review, of which only 49 were selected for full-text review. Among these, 24 studies were included. The medical literature suggests peripheral neuropathy - probably in a polyneuropathy phenotype - in SCA types 2 and 3. It is not possible to determine whether there is peripheral neuropathy in patients with SCA type 10, as there is only one case series in Mexico that described peripheral neuropathy in this group. Further studies are required to investigate peripheral neuropathy in patients with SCA types 2, 3, and 10. The study and description of a possible statistical association between CAG repeats and SARA scale scores with the presence of peripheral neuropathy are important points requiring assessment in future research.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142094035","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 Contributions to Traumatic Autobiographical Memory in People with Post-Traumatic Stress Disorder. 小脑对创伤后应激障碍患者创伤自传体记忆的贡献
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-24 DOI: 10.1007/s12311-024-01731-9
Chrysanthi Blithikioti, Or Duek, Charles Gordon, John H Krystal, Ifat Levy, Ilan Harpaz-Rotem, Daniela Schiller, Ofer Perl
{"title":"Cerebellar Contributions to Traumatic Autobiographical Memory in People with Post-Traumatic Stress Disorder.","authors":"Chrysanthi Blithikioti, Or Duek, Charles Gordon, John H Krystal, Ifat Levy, Ilan Harpaz-Rotem, Daniela Schiller, Ofer Perl","doi":"10.1007/s12311-024-01731-9","DOIUrl":"https://doi.org/10.1007/s12311-024-01731-9","url":null,"abstract":"<p><p>Post-traumatic stress disorder (PTSD) is a debilitating mental health condition characterized by recurrent re-experiencing of traumatic events. Despite increasing evidence suggesting that the cerebellum is involved in PTSD pathophysiology, it remains unclear whether this involvement is related to symptoms directly resulting from previous trauma exposure, such as involuntary re-experiencing of the traumatic events, or reflects a broader cerebellar engagement in negative affective states. In this study, we investigated the specific role of the cerebellum in PTSD by employing a script reactivation paradigm with personalized traumatic and sad autobiographical memories in 28 individuals diagnosed with chronic PTSD. Functional magnetic resonance imaging (fMRI) data were collected while participants listened to their own autobiographical narratives recounted by a third person. Activation in the right cerebellar lobule VI was uniquely associated with traumatic autobiographical recall and was parametrically modulated by the severity of re-experiencing symptoms. In contrast, cerebellar Crus II showed increased activation during both traumatic and sad autobiographical recall, suggesting a broader involvement in processing negative emotions. Our findings highlight the unique contribution of the right cerebellar lobule VI in the processing of traumatic autobiographical memories, potentially through its engagement in low-level representation of sensory and emotional aspects of traumatic events.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142047449","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
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases. 吉莱斯皮综合征的表型谱和自然史。最新文献综述及两个新病例。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-23 DOI: 10.1007/s12311-024-01733-7
Claudia Ciaccio, Matilde Taddei, Chiara Pantaleoni, Marina Grisoli, Daniela Di Bella, Stefania Magri, Franco Taroni, Stefano D'Arrigo
{"title":"Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.","authors":"Claudia Ciaccio, Matilde Taddei, Chiara Pantaleoni, Marina Grisoli, Daniela Di Bella, Stefania Magri, Franco Taroni, Stefano D'Arrigo","doi":"10.1007/s12311-024-01733-7","DOIUrl":"https://doi.org/10.1007/s12311-024-01733-7","url":null,"abstract":"<p><strong>Background: </strong>Gillespie syndrome is a rare disorder caused by pathogenic variants in ITPR1 gene and characterized by the typical association of cerebellar ataxia, bilateral aniridia and intellectual disability. Since its first description in 1965, less than 100 patients have been reported and only 30 with a molecular confirmation.</p><p><strong>Methods: </strong>We present two additional cases, both carrying a loss-of-function variant in the Gly2539 amino acid residue. We describe the clinical evolution of the patients, one of whom is now 17 years old, and discuss the updated phenotypic spectrum of the disorder.</p><p><strong>Results: </strong>The study gives an overview on the condition, allowing to confirm important data, such as an overall positive evolution of development (with some patient not presenting intellectual disability), a clinical stability of the neurological signs (regardless of a possible progression of cerebellar atrophy) and ocular aspects, and a low prevalence of general health comorbidities.</p><p><strong>Discussion: </strong>Data about development and the observation of middle-aged patients lend support to the view that Gillespie is to be considered a non-progressive cerebellar ataxia, making this concept a key point for both clinicians and therapists, and for the families.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037638","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 Theta Burst Stimulation Impairs Working Memory. 小脑θ脉冲刺激会损害工作记忆
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-22 DOI: 10.1007/s12311-024-01732-8
Nasem Raies, Jean-François Nankoo, Christopher R Madan, Robert Chen
{"title":"Cerebellar Theta Burst Stimulation Impairs Working Memory.","authors":"Nasem Raies, Jean-François Nankoo, Christopher R Madan, Robert Chen","doi":"10.1007/s12311-024-01732-8","DOIUrl":"https://doi.org/10.1007/s12311-024-01732-8","url":null,"abstract":"<p><p>Working memory refers to the process of temporarily storing and manipulating information. The role of the cerebellum in working memory is thought to be achieved through its connections with the prefrontal cortex. Previous studies showed that theta burst stimulation (TBS), a form of repetitive transcranial magnetic stimulation, of the cerebellum changes its functional connectivity with the prefrontal cortex. Specifically, excitatory intermittent TBS (iTBS) increases, whereas inhibitory continuous TBS (cTBS) decreases this functional connectivity. We hypothesized that iTBS on the cerebellum will improve working memory, whereas cTBS will disrupt it. Sixteen healthy participants (10 women) participated in this study. Bilateral cerebellar stimulation was applied with a figure-of-eight coil at 3 cm lateral and 1 cm below the inion. The participants received iTBS, cTBS, and sham iTBS in three separate sessions in random order. Within 30 min after TBS, the participants performed four working memory tasks: letter 1-Back and 2-Back, digit span forward, and digit span backward. Repeated measures analysis of variance revealed a significant effect of the type of stimulation (iTBS/cTBS/Sham) on performance in the digit span backward task (p = 0.02). The planned comparison showed that the cTBS condition had significantly lower scores than the sham condition (p = 0.01). iTBS and cTBS did not affect performance in the 1- and 2-Back and the digit span forward tasks compared to sham stimulation. The findings support the hypothesis that the cerebellum is involved in working memory, and this contribution may be disrupted by cTBS.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142019470","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
Immune Checkpoint Inhibitor-Related Cerebellar Toxicity: Clinical Features and Comparison with Paraneoplastic Cerebellar Ataxia. 免疫检查点抑制剂相关的小脑毒性:临床特征及与副肿瘤性小脑共济失调的比较。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-17 DOI: 10.1007/s12311-024-01727-5
Marta Dentoni, Irene Florean, Antonio Farina, Bastien Joubert, Le-Duy Do, Jérôme Honnorat, Valentina Damato, Martina Fabris, Gian Luigi Gigli, Mariarosaria Valente, Alberto Vogrig
{"title":"Immune Checkpoint Inhibitor-Related Cerebellar Toxicity: Clinical Features and Comparison with Paraneoplastic Cerebellar Ataxia.","authors":"Marta Dentoni, Irene Florean, Antonio Farina, Bastien Joubert, Le-Duy Do, Jérôme Honnorat, Valentina Damato, Martina Fabris, Gian Luigi Gigli, Mariarosaria Valente, Alberto Vogrig","doi":"10.1007/s12311-024-01727-5","DOIUrl":"https://doi.org/10.1007/s12311-024-01727-5","url":null,"abstract":"<p><p>Immune checkpoint inhibitors (ICIs) have revolutionized cancer therapy, and the association with immune-related adverse events (irAEs) is well-established. However, cerebellar irAEs are poorly defined and their relationship with paraneoplastic disorders remains unclear. Our aim was (i) to characterize cerebellar irAE; (ii) to compare it with paraneoplastic cerebellar ataxia (PCA). We performed a multicenter, retrospective, cohort study of patients developing new-onset, immune-mediated, isolated/predominant cerebellar dysfunction after ICI administration. In addition, a systematic review following PRISMA guidelines was performed. Cerebellar irAE cases were compared with a consecutive cohort of patients with PCA. Overall, 35 patients were included, of whom 12 were original cases (males: 25/35 (71%), median age: 65 [range: 20-82]). The most frequent tumor was non-small cell lung cancer (12/35, 34%). Anti-PD1 were adopted in 19/35 (54%). Symptoms developed at a median of 11 weeks after ICI onset. Neuronal antibodies were detected in 15/31 patients tested (48%). Cerebrospinal fluid was inflammatory in 25/30 (83%). Magnetic resonance imaging showed cerebellar hyperintensities in 8/35 (23%). Immunotherapy was applied in 33/35 cases (94%), and most patients improved with residual disability (16/35, 46%). When compared with a series of PCA (n = 15), the cerebellar irAE group was significantly more associated with male sex, lung cancer (rather than gynecological/breast cancers), isolated ataxia, and a better outcome. We provide a detailed characterization of cerebellar irAE. Compared to PCA, differences exist in terms of tumor association, clinical features, and outcome. Clinical presentation-antibody-tumor triad in the ICI group only partially reflects the associations described in paraneoplastic disorders.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996879","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
Acute Cerebellar Manifestations without Limbic Involvement in GABAB Receptor Autoimmune Encephalitis: Case Report and Literature Review. GABAB受体自身免疫性脑炎的急性小脑表现而无肢体受累:病例报告和文献综述。
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-13 DOI: 10.1007/s12311-024-01729-3
Taro Yasumoto, Kaho Onizawa, Sara Mori, Toshiatsu Obi, Masato Keicho, Shimpei Watanabe, Yoko Nabeshima, Hiroyasu Komuro, Seiya Takahashi, Akinori Futamura, Yasuhiko Baba, Ryuta Kinno
{"title":"Acute Cerebellar Manifestations without Limbic Involvement in GABA<sub>B</sub> Receptor Autoimmune Encephalitis: Case Report and Literature Review.","authors":"Taro Yasumoto, Kaho Onizawa, Sara Mori, Toshiatsu Obi, Masato Keicho, Shimpei Watanabe, Yoko Nabeshima, Hiroyasu Komuro, Seiya Takahashi, Akinori Futamura, Yasuhiko Baba, Ryuta Kinno","doi":"10.1007/s12311-024-01729-3","DOIUrl":"https://doi.org/10.1007/s12311-024-01729-3","url":null,"abstract":"<p><p>Autoimmune encephalitis is a rapidly progressive inflammatory brain disease. Gamma-aminobutyric acid type B (GABA<sub>B</sub>) receptor autoimmune encephalitis is a rare subtype characterized by distinct clinical features. Diagnosis can be especially challenging when typical limbic symptoms and neuroimaging findings are absent. This case report underscores the importance of identifying this condition and starting immunosuppressive treatment promptly. A 59-year-old man presented with gait disturbances, dysarthria, and severe ataxia without cognitive impairment. Initial examinations, including a brain MRI, were unremarkable, except for an elevated cell count and protein in the cerebrospinal fluid. Despite receiving initial empirical antiviral treatment, his symptoms worsened, prompting the administration of intravenous methylprednisolone and immunoglobulin. After these immunosuppressive therapies, the cerebellar symptoms showed gradual improvement. Subsequent testing for antibodies to the GABA<sub>B</sub> receptor was positive in both the serum and cerebrospinal fluid. Follow-up MRI revealed cerebellar atrophy, consistent with a diagnosis of GABA<sub>B</sub> receptor-associated acute cerebellitis. This case illustrates that cerebellar symptoms can occur in the absence of more common limbic manifestations in GABA<sub>B</sub> receptor autoimmune encephalitis. The progression of cerebellar atrophy following an initially normal MRI is a significant finding that offers supporting evidence for the diagnosis of cerebellitis. A review of the literature identified similar cases of acute cerebellitis without limbic symptoms, although neuroimaging abnormalities in the cerebellum were not reported. Our case underscores the importance of increased clinical awareness and consideration of autoimmune causes, even when neuroimaging appears normal. Early and appropriate immunosuppressive therapy may help change the course of the disease and enhance patient outcomes.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972282","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
Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic. 波雷蒂-博尔特豪泽综合征的产前诊断--一例臼齿征象模拟病例报告
IF 2.7 3区 医学
Cerebellum Pub Date : 2024-08-12 DOI: 10.1007/s12311-024-01728-4
Miguel Pereira-Macedo, Ana Grangeia, Ana Costa Braga, Ricardo Rolim, Alexandra Matias
{"title":"Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.","authors":"Miguel Pereira-Macedo, Ana Grangeia, Ana Costa Braga, Ricardo Rolim, Alexandra Matias","doi":"10.1007/s12311-024-01728-4","DOIUrl":"https://doi.org/10.1007/s12311-024-01728-4","url":null,"abstract":"<p><p>We report the prenatal diagnosis of Poretti-Boltshauser Syndrome (PBS) in a 36-year-old primigravida woman. At 22 weeks and 6 days of gestation, fetal ultrasound revealed a normally shaped but hyperechogenic cerebellum with all supratentorial structures appearing normal. Differential diagnosis included cavernous hemangioma, capillary telangiectasia, and cerebellar hemorrhage. Subsequent fetal cerebral MRI showed diffuse bilateral cerebellar modifications, reduced cranio-caudal diameter of the vermis, and pathological elongation and thickening of the superior cerebellar peduncles indicative of the molar tooth sign. Amniocentesis and whole exome sequencing identified two heterozygous truncating variants in the LAMA1 gene: c.3099G > A (p.Trp1033Ter) and c.3699T > A (p.Tyr1233Ter), confirming PBS.) Following the diagnosis, the pregnancy was terminated at 23 weeks and 5 days. Post-mortem examination supported the MRI findings consistent with PBS. This case highlights the importance of integrating ultrasound, MRI, and genetic analysis for accurate prenatal diagnosis and emphasizes the molecular diversity associated with PBS, including the presence of molar tooth sign mimics and a novel c.3699T > A variant.</p>","PeriodicalId":50706,"journal":{"name":"Cerebellum","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141917983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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