Acta neurologica Belgica最新文献_第2页

CSF-1R-related leukoencephalopathy: a rare cause of young-onset progressive cognitive decline.

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2024-12-10 DOI: 10.1007/s13760-024-02696-6

Rajat Manchanda, Mritunjai Kumar, Ashutosh Tiwari, Niraj Kumar

引用次数: 0

Neuromodulation techniques in traumatic brain injury: a narrative review of the current state.

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2024-12-09 DOI: 10.1007/s13760-024-02691-x

Mrinmoy Kundu, Vallabh Shet, Tariq Janjua, Luis Rafael Moscote

引用次数: 0

Hypoxic brain damage in Methadone misuse: insights from MRI imaging and comparative study.

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2024-12-06 DOI: 10.1007/s13760-024-02678-8

Ali Shamooshaki, Fariborz Faeghi, Hossein Jomleh, Amin Azizian, Dayan Amanian, Reza Kouhi

{"title":"Hypoxic brain damage in Methadone misuse: insights from MRI imaging and comparative study.","authors":"Ali Shamooshaki, Fariborz Faeghi, Hossein Jomleh, Amin Azizian, Dayan Amanian, Reza Kouhi","doi":"10.1007/s13760-024-02678-8","DOIUrl":"https://doi.org/10.1007/s13760-024-02678-8","url":null,"abstract":"Background: This study aimed to investigate the potential presence of brain disorders, particularly hypoxia, via magnetic resonance imaging (MRI) in patients misusing methadone, with a comparison to regular opium users and a control group.Methods: Conducted as a cross-sectional comparative study at Kamali Hospital in Karaj, Iran, the research included male participants comprising methadone users, opium users, and controls. Inclusion criteria were stringent, focusing on substance use duration and absence of brain structural disorders. MRI scans were performed using a 1.5T MRI scanner. Qualitative MRI assessments and chi-square tests analyzed associations between substance use and hypoxia, while logistic regression examined potential confounding variables.Results: Significant hypoxia was observed in the methadone group (16.7%, 5/24; p = 0.00057), with no cases in the opium or control groups. Logistic regression analysis showed no significant predictors of hypoxia regarding dose and duration of use. MRI findings in methadone users with hypoxia included varied ADC intensities, high signal intensities on T2-weighted and diffusion-weighted imaging (DWI) sequences, and angiogenesis patterns on TOF sequences. The co-use of methadone and alcohol was noted in three of the five hypoxia cases.Conclusion: Methadone misuse, particularly with alcohol, poses a significant risk of hypoxia, detectable via MRI. This study underscores the need for routine MRI monitoring, stricter regulation of non-prescribed methadone, and enhanced public health education to mitigate misuse risks. Future research should expand sample sizes and incorporate advanced imaging techniques to further elucidate methadone's neurological impact.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142783542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Examination of the autonomic nervous system at the bedside.

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2024-12-05 DOI: 10.1007/s13760-024-02654-2

Baikuntha Panigrahi, Achal Kumar Srivastava, Divyani Garg, Ashok Jaryal

引用次数: 0

Ocular Myasthenia gravis: determining the predictive factors of secondary generalisation.

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2024-12-02 DOI: 10.1007/s13760-024-02693-9

Prasana Nair Gengadharan, Wei Ting Ong, Jie Ying Tan, Nortina Shahrizaila, Khean Jin Goh, Cheng Yin Tan

{"title":"Ocular Myasthenia gravis: determining the predictive factors of secondary generalisation.","authors":"Prasana Nair Gengadharan, Wei Ting Ong, Jie Ying Tan, Nortina Shahrizaila, Khean Jin Goh, Cheng Yin Tan","doi":"10.1007/s13760-024-02693-9","DOIUrl":"https://doi.org/10.1007/s13760-024-02693-9","url":null,"abstract":"Introduction: Myasthenia gravis (MG) can be classified according to clinical features into ocular MG (OMG) and generalised MG (GMG). However, OMG carries the risk of conversion to GMG. In this study, we aimed to determine the predictive factors for the secondary generalisation of OMG patients.Methods: OMG patients followed-up in our hospital from January 1999 to November 2023 were retrospectively reviewed. Demographic and clinical characteristics data were collected from medical records. OMG patients with follow-up of < 2 years were excluded.Results: Of the 122 patients included, 87 (71.3%) remained as OMG and 35 (28.7%) had converted to GMG. The median time taken for generalisation was 12 months (IQR 6-30). 73.5% of patients had converted to GMG within 2 years. In univariate analysis, a significantly higher proportion of patients with positive anti-AChR antibodies (94.1% vs. 67.1%, p = 0.002), higher antibody titre (8.0 vs. 1.6 nmol/L, p < 0.001), positive repetitive nerve stimulation (RNS) (54.5% vs. 15.9%, p < 0.001), positive single-fibre electromyography (96.7% vs. 76.0%, p = 0.013) and the presence of thymic abnormalities (35.3% vs. 3.5%, p < 0.001), specifically thymoma (29.4% vs. 1.2%, p < 0.001) were associated with secondary generalisation. Conversely, higher percentage of patients who were treated with corticosteroid remained as OMG (37.9% vs. 17.1%, p = 0.026). However, in multivariate analysis, only positive anti-AChR antibodies (ORadj 9.6, 95% CI 1.7-56.1), positive RNS (ORadj 4.0, 95% CI 1.3-12.5) and the presence of thymoma (ORadj 29.5, 95% CI 2.5-351.1) were independently associated with secondary generalisation.Conclusion: The presence of anti-AChR antibodies and thymoma with positive RNS were the predictive factors of secondary generalisation in OMG.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142764769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Foreign Accent Syndrome: insights from Neuroimaging and Pathophysiological mechanisms.

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2024-11-29 DOI: 10.1007/s13760-024-02690-y

Ioannis Mavroudis, Foivos Petridis, Dimitrios Kazis, Cătălina Ionescu, Antoneta Dacia Petroaie, Laura Romila, Fatima Zahra Kamal, Alin Ciobica, George Catalin Morosan, Bogdan Novac, Otilia Novac, Alin Iordache

{"title":"Foreign Accent Syndrome: insights from Neuroimaging and Pathophysiological mechanisms.","authors":"Ioannis Mavroudis, Foivos Petridis, Dimitrios Kazis, Cătălina Ionescu, Antoneta Dacia Petroaie, Laura Romila, Fatima Zahra Kamal, Alin Ciobica, George Catalin Morosan, Bogdan Novac, Otilia Novac, Alin Iordache","doi":"10.1007/s13760-024-02690-y","DOIUrl":"https://doi.org/10.1007/s13760-024-02690-y","url":null,"abstract":"Foreign Accent Syndrome (FAS) is a rare and complex speech disorder characterized by the sudden emergence of a foreign accent, typically following neurological events such as strokes, traumatic brain injuries, or neurodegenerative diseases. This comprehensive review explores the pathophysiology, neuroimaging findings, and prevalence of FAS. Neuroimaging studies, including MRI and fMRI, reveal significant brain reorganization predominantly in the left hemisphere, involving regions such as the superior temporal gyrus and medial frontal structures. Functional connectivity disruptions and the phenomenon of dynamic diaschisis are discussed as potential mechanisms. Additionally, the review addresses the psychogenic aspects of FAS, highlighting the role of psychological factors and functional neurological disorders. The high comorbidity of FAS with other conditions underscores the need for a multidisciplinary diagnostic and therapeutic approach. This paper aims to enhance the understanding of FAS and contribute to the development of effective treatment strategies for this unique speech disorder.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

A rare genetic variant in APEX1 is associated with familial amyotrophic lateral sclerosis with slow progression. APEX1 的罕见基因变异与进展缓慢的家族性肌萎缩侧索硬化症有关。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2024-11-28 DOI: 10.1007/s13760-024-02692-w

Yuxin Mi, Peipei Zhang, Xiaotong Hou, Yuqi Ding, Yiying Wang, Hongwu Du, Min Deng

{"title":"A rare genetic variant in APEX1 is associated with familial amyotrophic lateral sclerosis with slow progression.","authors":"Yuxin Mi, Peipei Zhang, Xiaotong Hou, Yuqi Ding, Yiying Wang, Hongwu Du, Min Deng","doi":"10.1007/s13760-024-02692-w","DOIUrl":"https://doi.org/10.1007/s13760-024-02692-w","url":null,"abstract":"Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by loss of motor neurons and progressive muscle weakness. We aimed to identify the pathogenic genetic variants in familial ALS (fALS) pedigrees and to elucidate their impact on the disease phenotype. Through the analysis of whole-genome sequencing data of 34 fALS probands that screened negative for mutations in the most common ALS-causing genes, we identified a rare missense variant in APEX1 (NM_001641.4: c.22G > A, p.Gly8Arg) associated with ALS in one pedigree. Fluorescence microscopy images using green fluorescent protein (GFP)-fusion proteins suggested that this amino acid substitution could cause an impairment in nuclear localization of the protein. We described the clinical characteristics of this cohort analyzed and found that patients carrying this variant exhibit lower motor neuron onset and prolonged survival. The relation between APEX1 and ALS occurrence has been elusive despite evidence of a neuroprotective role for the gene. This study provides evidence linking an APEX1 variant with fALS and information on the distinct clinical manifestation. This study contributes to the understanding of the genetic basis of ALS, as well as a potential mechanism leading to loss of neurons, highlighting possible opportunities of targeted treatment harnessing the DNA repair process or ameliorating the oxidative stress.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142737998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 variability in congenital myasthenic syndrome with GFPT1 mutation. 伴有 GFPT1 基因突变的先天性肌无力综合征的表型变异。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2024-11-27 DOI: 10.1007/s13760-024-02694-8

Suresh Babu Vallepu, Kamakshi Dhamija, Gurdeep Kumar Rajan, Tarang Panchal, Ravindra Kumar Saran, Sujata Roshan

{"title":"Phenotypic variability in congenital myasthenic syndrome with GFPT1 mutation.","authors":"Suresh Babu Vallepu, Kamakshi Dhamija, Gurdeep Kumar Rajan, Tarang Panchal, Ravindra Kumar Saran, Sujata Roshan","doi":"10.1007/s13760-024-02694-8","DOIUrl":"https://doi.org/10.1007/s13760-024-02694-8","url":null,"abstract":"Background: Congenital myasthenic syndrome (CMS) is phenotypically and genetically different from myasthenia gravis. CMS can present in adolescents and can be treatable. Genetic testing is helpful in diagnosis, and guides therapy, alleviating the need of muscle biopsy. Also, Genetic diagnosis allows a diagnosis of certainty, especially if there is any doubt about a muscular pathology Henceforth, it is an important differential in those presenting with fixed or fluctuating weakness.Method: Herein, we report two adolescent females with positive Glutamine-fructose-6-phosphate transaminase1( GFPT)mutation(c.322G > A p.Arg111His) with different phenotypic features. One of them presented with dysmorphic features, hyperextensible joints, features suggestive of metabolic myopathy on muscle biopsy and a strongly positive acetylcholine receptor (AChR) antibodies in serum. The second case presented with clinical features typical of congenital limb girdle myasthenic syndrome.Conclusion: Our case had limb girdle weakness, dysmorphic features, uniquely positive AChR antibody, mitochondrial pathology on muscle biopsy and positive GFPT1 mutation. This phenotype has not been reported previously. Given the condition being potentially treatable, GFPT1 mutation subtype of CMS should be considered in differential diagnosis of limb girdle weakness phenotype even in the absence of family history.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142724785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Reversible posterior leukoencephalopathy syndrome (RPLS) in a patient with chronic lymphocytic leukemia (CLL) treated with Acalabrutinib, a Bruton's tyrosine kinase (BTK) inhibitor: a case report. 一名接受布鲁顿酪氨酸激酶（BTK）抑制剂 Acalabrutinib 治疗的慢性淋巴细胞白血病（CLL）患者的可逆性后脑白质病综合征（RPLS）：病例报告。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2024-11-25 DOI: 10.1007/s13760-024-02686-8

L Janssens, S Huybrecht, S De Blauwe, L Vanopdenbosch, H Parmentier

{"title":"Reversible posterior leukoencephalopathy syndrome (RPLS) in a patient with chronic lymphocytic leukemia (CLL) treated with Acalabrutinib, a Bruton's tyrosine kinase (BTK) inhibitor: a case report.","authors":"L Janssens, S Huybrecht, S De Blauwe, L Vanopdenbosch, H Parmentier","doi":"10.1007/s13760-024-02686-8","DOIUrl":"https://doi.org/10.1007/s13760-024-02686-8","url":null,"abstract":"RPLS is a rare neuroradiologic syndrome characterized by headache, visual disturbances, focal deficits and confusion. There are several underlying mechanisms causing RPLS, including arterial hypertension and renal failure, but also treatments with immunosuppressive therapy, chemotherapy or targeted therapy (such as small molecule inhibitors). Acalabrutinib is a novel second-generation BTK inhibitor, frequently used as treatment for B-cell malignancies. Here, we present a case of RPLS in a CLL patient treated with Acalabrutinib, for 18 months. A 76-year-old male, with a history of arterial hypertension and kidney disease, experienced throbbing headache and visual disturbances and was diagnosed with RPLS based on the typical high parietal subcortical hyperintensities on FLAIR MRI. Due to the effective management of his aggravated hypertension, the new MRI lesions were resolved at the follow-up scan after one month. We conclude that, in patients treated with a BTK inhibitor like Acalabrutinib, clinicians should pay special attention to the development of a new or worsened hypertension or the development of a new headache, visual disturbances or other symptoms that may indicate RPLS.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Risk of stroke after traumatic brain injury: a systematic review and meta-analysis. 脑外伤后中风的风险：系统回顾与荟萃分析。

IF 2 4区医学

Acta neurologica Belgica Pub Date : 2024-11-22 DOI: 10.1007/s13760-024-02688-6

Armin Karamian, Hana Farzaneh, Masoud Khoshnoodi, Najmeh Hosseini, Mojtaba Taheri, Brandon Lucke-Wold

{"title":"Risk of stroke after traumatic brain injury: a systematic review and meta-analysis.","authors":"Armin Karamian, Hana Farzaneh, Masoud Khoshnoodi, Najmeh Hosseini, Mojtaba Taheri, Brandon Lucke-Wold","doi":"10.1007/s13760-024-02688-6","DOIUrl":"https://doi.org/10.1007/s13760-024-02688-6","url":null,"abstract":"Background: Traumatic brain injury (TBI) is a major cause of death and disability in the United States. There is a suggested association between TBI and stroke, emphasizing the need for increased medical monitoring post-trauma. We conducted a systematic review and meta-analysis to investigate the link between previous TBI and the future diagnosis of any type of stroke.Methods: A comprehensive search was conducted on PubMed, Google Scholar, and Cochrane Library to find eligible studies investigating the association between TBI and long-term risk of stroke.Results: Out of 2,378 studies, 11 articles met the inclusion criteria for our meta-analysis. The pooled analysis showed that the patients who had a history of TBI were at greater risk for stroke than patients in the control group (random-effect HR = 1.59, 95% CI 1.37-1.85, p < 0.001, I2 = 97%). The risk of ischemic stroke in TBI patients was greater than in non-TBI patients (random-effect HR = 1.52, 95% CI 1.36-1.70, p < 0.001, I2 = 93%). Additionally, there is a strong correlation between TBI and hemorrhagic stroke (random-effect HR = 4.68, 95% CI 2.93-7.49, p < 0.001, I2 = 93%).Conclusion: Our results indicate that there is a relationship between TBI and long-term risk of stroke, regardless of the stroke type. The risk is elevated in the first months post-injury and continues to be high in the years following the trauma. Individuals with moderate to severe TBI face a higher risk of developing a post-TBI stroke than those with mild TBI.","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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