Neurological Sciences最新文献

{"title":"Exploring dysregulated miRNAs in ALS: implications for disease pathogenesis and early diagnosis.","authors":"Dipan Maity, Ravinder K Kaundal","doi":"10.1007/s10072-024-07840-x","DOIUrl":"10.1007/s10072-024-07840-x","url":null,"abstract":"<p><strong>Background: </strong>Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease marked by motor neuron degeneration, leading to muscle weakness and paralysis, with no effective treatments available. Early diagnosis could slow disease progression and optimize treatment. MicroRNAs (miRNAs) are being investigated as potential biomarkers due to their regulatory roles in cellular processes and stability in biofluids. However, variability across studies complicates their diagnostic utility in ALS. This study aims to identify significantly dysregulated miRNAs in ALS through meta-analysis to elucidate disease mechanisms and improve diagnostic strategies.</p><p><strong>Methods: </strong>We systematically searched PubMed, Google Scholar, and the Cochrane Library, following predefined inclusion and exclusion criteria. The primary effect measure was the standardized mean difference (SMD) with a 95% confidence interval, analyzed using a random-effects model. Additionally, we used network pharmacology to examine the targets of dysregulated miRNAs and their roles in ALS pathology.</p><p><strong>Results: </strong>Analysing 34 studies, we found significant upregulation of hsa-miR-206, hsa-miR-133b, hsa-miR-23a, and hsa-miR-338-3p, and significant downregulation of hsa-miR-218, hsa-miR-21-5p, and hsa-let-7b-5p in ALS patients. These miRNAs are involved in ALS pathophysiology, including stress granule formation, nuclear pore complex, SMCR8 and Sig1R dysfunction, histone methyltransferase complex alterations, and MAPK signaling perturbation, highlighting their critical role in ALS progression.</p><p><strong>Conclusion: </strong>This study identifies several dysregulated miRNAs in ALS patients, offering insights into their role in the disease and potential as diagnostic biomarkers. These findings enhance our understanding of ALS mechanisms and may inform future diagnostic strategies. Validating these results and exploring miRNA-based interventions are crucial for improving ALS diagnosis and treatment outcomes.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1661-1686"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682142","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":"First case report of effective and safe application of cannabidiol to treat concurrent ALG3-CDG and Lennox-Gastaut Syndrome.","authors":"Seok-Jin Lee, Ji-Hoon Na, Hyunjoo Lee, Young-Mock Lee","doi":"10.1007/s10072-025-08004-1","DOIUrl":"10.1007/s10072-025-08004-1","url":null,"abstract":"<p><p>This study presents the first reported case of a Korean patient with Alpha-1,3-Mannosyltransferase-Congenital Disorder of Glycosylation (ALG3-CDG), characterized by a novel maternally inherited missense mutation and a previously reported paternally inherited nonsense mutation. The patient exhibited typical ALG3-CDG manifestations, including developmental delays, epilepsy, and multisystem involvement, alongside a diagnosis of Lennox-Gastaut Syndrome (LGS). Cannabidiol therapy, combined with dietary management, led to seizure freedom for over 13 months, significant EEG improvement, and enhanced developmental outcomes. This case underscores the potential of cannabidiol as a promising treatment strategy for patients with ALG3-CDG and refractory epilepsy, broadening therapeutic perspectives for this rare disorder.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1901-1904"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008891","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":"Magnetic resonance imaging findings of cerebral venous malformations.","authors":"Veysel Kıyak, Murat Beyhan, Erkan Gökçe","doi":"10.1007/s10072-024-07912-y","DOIUrl":"10.1007/s10072-024-07912-y","url":null,"abstract":"<p><strong>Purpose: </strong>Our study aimed to evaluate the incidence and anatomical locations of cerebral venous malformations (CVMs), their alterations over time, and magnetic resonance imaging (MRI) findings of their relationships with each other in patients who underwent magnetic susceptibility-weighted imaging (SWI) and contrast-enhanced MRI.</p><p><strong>Methods: </strong>The drainage pattern of developmental venous anomalies (DVAs), the number of collecting veins, DVA thrombosis, signal-intensity abnormalities, and hemosiderin deposits (nodular, diffuse, or both) related to the DVA, were examined. The alterations over time in cavernomas (type and size) were assessed.</p><p><strong>Results: </strong>The study evaluated 7,826 patients who had 8,957 magnetic SWI and contrast-enhanced brain MRIs. A total of 643 CVMs were detected in 520 patients. The frequencies of DVAs, cavernomas, and capillary telangiectasias were 5.26%, 1.28%, and 0.62%, respectively. Isolated DVAs were detected in 430 (71.5%), cavernomas in 77 (12.8%), and capillary telangiectasias in 52 (8.7%) cases of CVMs. The coexistence of DVA with cavernoma and DVA with capillary telangiectasia was found in 38 (6.3%) and 4 (0.7%) cases, respectively. DVA drainage was largely provided by a single collecting vein. Signal-intensity abnormalities associated with the DVA were observed in 7, and two patients had DVA thrombosis. Hemosiderin deposits were nodular in 14 cases, diffuse in three, and both nodular and diffuse in two. In a follow-up of 11 (7.8%) cavernomas, alterations in the type and size were detected.</p><p><strong>Conclusion: </strong>It is not uncommon for cavernomas to become symptomatic owing to alterations in their nature, size, and type over time, while DVAs rarely become symptomatic. Capillary telangiectasias are vascular malformations that tend to remain stable in terms of clinical and imaging features, and those with supratentorial localization are detected more frequently in the frontal lobe. On magnetic susceptibility sequences, hemosiderin deposits can be seen in the GVA region, not rarely but more frequently in nodular form, as well as in diffuse or nodular or diffuse and nodular forms.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1721-1732"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786295","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":"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}