Neurological Sciences最新文献

{"title":"Adult-onset vanishing white matter disease due to a novel compound heterozygous EIF2B2 mutation: a case report and brief review.","authors":"Yuanjing Sun, Ruihong Liu, Shujin Tang, Yuhua Fan, Jingjing Li","doi":"10.1007/s10072-025-07990-6","DOIUrl":"10.1007/s10072-025-07990-6","url":null,"abstract":"<p><strong>Background and objectives: </strong>Vanishing white matter disease (VWMD) is an autosomal recessive leukoencephalopathy caused by mutations in the EIF2B1-5 genes, typically rare in adulthood. We present a case of adult-onset VWMD with a novel EIF2B2 mutation.</p><p><strong>Methods: </strong>We collected the patient's clinical data, cerebrospinal fluid (CSF) results, laboratory tests, imaging features, genetic analysis, and follow-up data over a 4-year period.</p><p><strong>Results: </strong>A 40-year-old male patient presented with difficulty walking and leg pain. Neurological examination revealed acalculia, slow reaction times, and ataxia. Magnetic resonance imaging (MRI) scans showed diffuse, symmetric lesions with cerebrospinal fluid-like signals predominantly in the subcortical, periventricular, and cerebellar white matter. Genetic testing identified a compound heterozygous mutation in EIF2B2, consisting of a novel nonsense mutation (c.378 T > G, p.Tyr126*) and a reported missense mutation (c.818A > G, p.Lys273Arg) (NM_014239.4).</p><p><strong>Discussions: </strong>This report highlights the diverse phenotypic manifestations of VWMD and underscores the importance of considering EIF2B2 mutations in adult male patients with bilaterally symmetric hyperintensities in white matter and slowly progressive symptoms.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"46 4","pages":"1891-1896"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649679","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}

{"title":"Clinical relapse after 52 years in myelin oligodendrocyte glycoprotein antibody-associated disease.","authors":"Benjamin P Trewin, Hanka Laue-Gizzi, John Downie, Ian Francis, Sudarshini Ramanathan, Todd A Hardy","doi":"10.1007/s10072-024-07877-y","DOIUrl":"10.1007/s10072-024-07877-y","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1941-1944"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639286","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}

{"title":"Full moon mesencephalon sign: a transient cytotoxic lesion in a hemodialysis patient with newly diagnosed atrial fibrillation and severe stenosis of the right vertebral artery.","authors":"Celeste Sassi, Sylvia Habermann, Marcelo Alejandro Coria, Albert Grüger, Vasilis Kola, Hans-Michael Schmitt","doi":"10.1007/s10072-024-07926-6","DOIUrl":"10.1007/s10072-024-07926-6","url":null,"abstract":"<p><p>Brain cytotoxic edema is a neuroradiological sign secondary to variegate diseases ranging from migraine to fulminant Listeria rhombencephalitis. The tempestive identification of its underlying cause is vital for an effective treatment as any delay may be fatal. However, the lack of distinctive imaging biomarkers and the paucity of reports pose a significant challenge in its diagnosis and frequently lead to a misdiagnosis particularly with the more common acute ischemic stroke. Importantly, due to its rarity, mesencephalon midline cytotoxic lesion is likely to remain an underdiagnosed clinical phenomenon, especially if follow up MRI is not performed. Here we report a case of a central, midline, symmetric midbrain cytotoxic edema in a haemodialysis patient with diverse chronic progressive severe cardiovascular risk factors and a newly diagnosed atrial fibrillation. We expand the spectrum of neuroradiological hallmarks associated to terminal renal failure and report a full moon-like mesencephalon midline transient restricted diffusion as a reliable imaging biomarker for the prompt and accurate diagnosis of midbrain cytotoxic edema with the enormous potential of rapidly identifying and effectively treating its causative factors and timely reverse the associated symptomatic.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1921-1924"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920307/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142807198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is there still hesitancy towards SARS-CoV-2 vaccination among people with neurological disease- a survey of the NeuroCOVID-19 task force of the European Academy of Neurology.","authors":"Sonja Hochmeister, Martin Rakusa, Elena Moro, Daniel Bereczki, Francesco Cavallieri, Alessandra Fanciulli, Saša R Filipović, Alla Guekht, Raimund Helbok, Filippo Martinelli Boneschi, Serefnur Özturk, Alberto Priori, Barbara Willekens, Dauren Ramankulov, Johann Sellner","doi":"10.1007/s10072-025-08017-w","DOIUrl":"10.1007/s10072-025-08017-w","url":null,"abstract":"<p><strong>Background: </strong>An online 3-item survey was sent to the European Academy of Neurology (EAN) community and inquired about the persistence of SARS-CoV-2 vaccination skepticism and the underlying thoughts and factors restricting vaccine use among patients with neurological conditions.</p><p><strong>Results: </strong>We obtained 616 responses from 84 countries, predominantly from Europe. In the view of the treating neurologist, patients with multiple sclerosis (MS), neuroimmunological disorders (ND), and chronic neurological infections continued to have high levels of skepticism toward SARS-CoV-2 vaccination. Patients with MS/ND were quoted as the most hesitant group, with 60% of the respondents sharing this impression. The patient group perceived as most confident towards immunization against COVID-19 and with the lowest level of distrust towards the vaccine were those with sleep disorders. For all other conditions, perceived distrust ranged between 42 and 52%. Fear of adverse events of vaccination or disease reactivation was perceived by 87% of patients with MS/ND and more than 70% of patients with stroke/vascular neurology, neuromuscular disorders, chronic neurological infections, and peripheral neuropathy. Patients with sleep disorders (54%), autonomic disorders (46%), movement disorders (43%), and dementia (43%) were sensed as less fearful of vaccine-related adverse events.</p><p><strong>Conclusion: </strong>Despite the large body of evidence proving the efficacy and safety of SARS-CoV-2 vaccination, patients with certain neurological disorders still have a surprisingly high percentage of distrust and fear of adverse events. Our observations emphasize the importance of continuous evidence-based information delivery and patient education by treating neurologists.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1467-1476"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143189958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is surgical decompression effective for malignant cerebral oedema after ischemic stroke?","authors":"Marta Melis","doi":"10.1007/s10072-024-07950-6","DOIUrl":"10.1007/s10072-024-07950-6","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1917-1919"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142838458","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}

{"title":"Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.","authors":"Martina Rimoldi, Sabrina Lucchiari, Serena Pagliarani, Giovanni Meola, Giacomo Pietro Comi, Elena Abati","doi":"10.1007/s10072-024-07826-9","DOIUrl":"10.1007/s10072-024-07826-9","url":null,"abstract":"<p><p>Myotonic dystrophies (DM) encompass a group of complex genetic disorders characterized by progressive muscle weakness with myotonia and multisystemic involvement. The aim of our paper is to synthesize key findings and advancements in the understanding of DM, and to underline the multidisciplinary approach to DM, emphasizing the importance of genetic counseling, comprehensive clinical care, and symptom management. We discuss the genetic basis of DM, emphasizing the role of repeat expansions in disease pathogenesis, as well as cellular and animal models utilized for studying DM mechanisms and testing potential therapies. Diagnostic challenges, such as determining the size of disease expansions and assessing mosaicism, are elucidated alongside emerging genetic testing methods. Therapeutic strategies, mainly for DM1, are also explored, encompassing small molecules, nucleic acid-based therapies (NATs), and genome/transcriptome engineering. The challenges of such a therapeutic delivery and immunogenic response and the importance of innovative strategies, including viral vectors and AAV serotypes, are highlighted within the text. While no curative treatments have been approved, supportive and palliative care remains essential, with a focus on addressing multisystemic complications and maintaining functional independence. Continued exploration of these therapeutic advancements offers hope for comprehensive disease management and potentially curative therapies for DM1 and related disorders.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1599-1616"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Care pathways for individuals with post-anoxic disorder of consciousness (CaPIADoC): an inter-society Consensus Conference.","authors":"Anna Estraneo, Alfonso Magliacano, Francesco De Bellis, Aldo Amantini, Susanna Lavezzi, Antonello Grippo","doi":"10.1007/s10072-024-07875-0","DOIUrl":"10.1007/s10072-024-07875-0","url":null,"abstract":"<p><strong>Background: </strong>Accurate recognition of consciousness level and detection of neurological complications since the intensive care unit are crucial for an appropriate prognostication and tailored treatment in patients with post-anoxic disorder of consciousness (DoC).</p><p><strong>Objective: </strong>The present inter-society Consensus Conference aimed at addressing current debates on diagnostic and prognostic procedures.</p><p><strong>Methods: </strong>Twelve working groups involving 22 multidisciplinary professionals (membership of 9 Scientific Societies and 2 patients' family Associations) conducted a systematic literature review focused on 12 questions addressing diagnosis (n = 5) and prognosis (n = 7). The quality of evidence of the included studies was evaluated using the Oxford Centre for Evidence-Based Medicine Levels of Evidence. A Jury involving Scientific Societies and patients' family Associations provided recommendations based on the evidence levels and expert opinion.</p><p><strong>Results: </strong>An overall number of 1,219 papers was screened, and 21 were included in the review. Working groups produced a report on strengths and limits of evidence for each question. The overall suggestion was to use a multimodal assessment combining validated clinical scales, neurophysiological exams, and neuroimaging in diagnostic and prognostic procedure, to guide personalized treatment. A strong recommendation was to use standardized terminologies and diagnostic criteria for ensuring homogeneity and appropriateness in patients management.</p><p><strong>Conclusion: </strong>This multidisciplinary Consensus Conference provided the first operational recommendations for a good clinical practice procedure for patients with post-anoxic DoC. A periodic review will be necessary based on future evidence from the literature and implementation of the present recommendations.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1751-1764"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716610","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}

{"title":"Phenotypic patterns and response to immunotherapy in a group of Very Late Onset Myasthenia Gravis: a single center study.","authors":"Aigli G Vakrakou, Eleni Strataki, Loukas Lymperopoulos, Dimitrios Panaretos, Vasiliki Zouvelou","doi":"10.1007/s10072-024-07920-y","DOIUrl":"10.1007/s10072-024-07920-y","url":null,"abstract":"<p><strong>Background/aims: </strong>The goal of this study was to assess the clinical profile of myasthenia gravis (MG) in patients diagnosed above 65-years of age (VLOMG) and identify clinical/serological parameters associated with their MG status and prognosis.</p><p><strong>Methods: </strong>This was a retrospective assessment of consecutive patients with VLOMG (n = 70) Demographics, clinical characteristics, medical comorbidities, the Myasthenia Gravis Foundation of America (MGFA) severity scale scores, and MGFA Post-Intervention Status (MGFA-PIS) were collected.</p><p><strong>Results: </strong>The research population was diagnosed with MG at an average age of 73.16 ± 6.33 years, a male/female ratio of 2.3/1 and a mean follow-up time of 53.09 ± 46.37 months. The titer of acetylcholine receptor antibodies (AChR Abs) was positive at 95.71% of patients. The predominant distribution of myasthenic weakness was oculobulbar (63.79%). At the last follow-up, 75.71% of patients reached Pharmacological-Remission (PR) or Minimal-Manifestations (MM), 17% manifested improvement and 7.14% were clinically unchanged, worse or dead, according to MGFA-PIS. Most patients responded to low doses of steroids. Males and patients with generalized muscle involvement upon disease-onset were more likely to reach PR or MM than females or ocular presentation (OR = 3.84 and O.18, respectively). Six patients (8.57%) were treated with at least one cycle of rituximab due to disease severity. Five (83%) reached PR or MM and one improved (mean follow up time: 7.5 months).</p><p><strong>Interpretation: </strong>We found that patients with VLOMG are usually males, with oculobulbar muscle involvement and positive titer of AChR Abs. The majority had a favorable prognosis and an adequate response to low doses of prednisolone and long-term immunosuppression.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1833-1842"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142795044","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}

{"title":"Exploring neurosurgical interventions in Alzheimer's disease: current perspectives and future directions.","authors":"Nachammai Kathiresan, Chandrabose Selvaraj, Gowtham Kumar Subbaraj, Kulanthaivel Langeswaran","doi":"10.1007/s10072-024-07925-7","DOIUrl":"10.1007/s10072-024-07925-7","url":null,"abstract":"<p><p>Alzheimer's Disease (AD), a neurodegenerative disorder characterized by cognitive decline, has traditionally relied on pharmacological interventions. However, the limitations of current treatments have spurred interest in neurosurgical approaches. This review explores the potential of neurosurgery, particularly deep brain stimulation (DBS), in modifying disease progression and enhancing cognitive function in AD patients. While promising, significant challenges, including surgical precision, patient variability, and ethical considerations, hinder widespread application. The future of neurosurgical interventions lies in minimally invasive techniques, novel neurostimulation methods, and precision neurosurgery guided by advanced imaging and neurophysiological mapping. As research advances, neurosurgery may emerge as a valuable tool in the comprehensive management of AD.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1925-1927"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801841","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}

{"title":"Surgery of brainstem cavernous malformations: surgical nuances and outcomes of a monocentric series of 34 patients.","authors":"Jacopo Falco, Morgan Broggi, Francesco Acerbi, Marco Schiariti, Michela E Moretti, Francesco Restelli, Paola Lanteri, Chiara Foschini, Giovanni Broggi, Paolo Ferroli","doi":"10.1007/s10072-024-07943-5","DOIUrl":"10.1007/s10072-024-07943-5","url":null,"abstract":"<p><strong>Background: </strong>Brainstem cavernous malformations (BCM) constitute one of the most controversial and challenging neurological pathologies: both natural course and surgical manipulation can lead to severe neurological symptoms by direct compression or following hemorrhage of this highly eloquent brain region.</p><p><strong>Methods: </strong>The vascular section of the prospectively collected neurosurgical database of our center (2011-2023) was retrospectively reviewed, seeking all patients operated on for a sporadic BCM. Clinical, radiological and surgical data, operative records and videos were analyzed by independent reviewers with the assistance of a dedicated neuropsychologist, blinded to the hospital course.</p><p><strong>Results: </strong>Thirty-four patients aged between 19 and 70 years were identified and considered for analyses, with different brainstem localizations. The clinical onset was hemorrhagic in almost all cases: the average mRS on admission was 2.47 (21 patients ≤ 2). Surgical treatment was performed on average 15.1 weeks after the last bleeding. At hospital discharge, the mean mRS was 3.26 (6 patients ≤ 2). After a mean follow-up of 56.59 weeks, 29 patients (85.3%) presented an improved or stable mRS compared to hospitalization and 5 had a slight worsening (14.7%).</p><p><strong>Conclusion: </strong>Brainstem cavernoma is a rare entity with aggressive features due to the involved eloquence despite of the benign histology itself. Microsurgical resection should be tailored for each patient to the peculiar characteristics of the harbored lesion. Advanced planning techniques reduced morbidity; patients should be centralized in wide caseload hospitals with high specialization in neurovascular pathologies and should receive an appropriate counseling about natural history and risks of interventional treatment.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1733-1740"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142838467","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}