Neurological Sciences最新文献

{"title":"Harlequin syndrome as part of cervicothoracic spine injury following a fall.","authors":"Aliya Hyman, Svetlana Blitshteyn","doi":"10.1007/s10072-025-08387-1","DOIUrl":"10.1007/s10072-025-08387-1","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5509-5511"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144768813","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":"Frontotemporal dementia with C9orf72 mutation presenting with bizarre psychosis and right flail leg syndrome.","authors":"Alice Mazzonetto, Giorgio Pigato, Cinzia Bussè, Giacomo Maria Minicuci, Diego Cecchin, Annachiara Cagnin","doi":"10.1007/s10072-025-08379-1","DOIUrl":"10.1007/s10072-025-08379-1","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5463-5465"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144794965","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":"Neuroglial biomarkers in autoimmune encephalitis: advances in diagnosis, prognosis, and pathophysiological insights.","authors":"Maria S Borioni, Alessandra Morano, Alessia L De Matteis, Adolfo Mazzeo, Pierludovico Moro, Carlo Di Bonaventura, Emanuele Cerulli Irelli","doi":"10.1007/s10072-025-08406-1","DOIUrl":"10.1007/s10072-025-08406-1","url":null,"abstract":"<p><p>Autoimmune encephalitis (AE) presents with a diverse spectrum of neuropsychiatric symptoms, often leading to diagnostic challenges and delays in treatment. Neuroglial biomarkers may improve AE diagnosis, disease monitoring, and prognostication. This review examines the diagnostic and prognostic value of fluid biomarkers in AE, focusing on markers of neuroaxonal damage, synaptic dysfunction, astroglial activation, and amyloid metabolism. A systematic search of PubMed, Cochrane, and Scopus databases (from inception until November 26, 2024) was performed. Of the 1,270 articles screened, 31 studies met the inclusion criteria. Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis was the most frequently investigated subtype (70% of studies). Neurofilament light chain (NfL) was the most widely analyzed biomarker, with elevated levels in both cerebrospinal fluid and serum, aiding in the differentiation of AE from primary psychiatric disorders and in the early identification of checkpoint inhibitor-related neurotoxicity. NfL and total tau (t-Tau) were consistently higher in paraneoplastic than non-paraneoplastic AE. Despite some variability across studies, amyloid-beta (Aβ) 42 and Aβ40, as well as phosphorylated tau (p-Tau), were altered in AE compared to controls, although generally to a lesser extent than in Alzheimer's disease. Higher baseline NfL and YKL-40 correlated with disease severity, and NfL reductions post-immunotherapy were linked to treatment response. Despite consistent heterogeneities in sampling timing, these findings highlight the potential of neuroglial biomarkers as diagnostic and prognostic tools in AE. Future studies should explore longitudinal biomarker dynamics and refine their clinical applications.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"4925-4941"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144874302","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":"Dual cancers in Ataxia-Telangiectasia: a case report and literature review.","authors":"Shaghayegh Khanmohammadi, Amirhossein Habibzadeh, Seyed Mohammad Kazem Nourbakhsh, Mojtaba Fazel, Erfan Amini, Hassan Abolhassani, Nima Rezaei, Arash Kalantari, Reza Yazdani","doi":"10.1007/s10072-025-08417-y","DOIUrl":"10.1007/s10072-025-08417-y","url":null,"abstract":"<p><strong>Background: </strong>Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, leading to defective DNA repair, genomic instability, and immune surveillance dysfunction. Therefore, A-T patients are predisposed to cancers, particularly hematological malignancies like lymphoma and leukemia.</p><p><strong>Methods: </strong>To identify the characteristics of A-T cases with multiple cancers, we searched the Iranian A-T registry with 324 cases and conducted a systematic literature search in PubMed and Embase using appropriate keywords. Studies reporting A-T patients with two or more distinct cancers were included and compared with cases identified from our national registry.</p><p><strong>Results: </strong>Multiple cancers were reported in one 19-year-old male with A-T who presented diffuse large B-cell lymphoma (DLBCL) and renal cell carcinoma (RCC) due to a homozygous severe splicing mutation in ATM. In our literature review, we found 14 cases of A-T patients diagnosed with at least two distinct types of cancer. Among the secondary cancers in the 14 patients, hematologic cancer was observed in 3 patients (21.4%), while non-hematologic cancers were seen in 11 patients (78.6%). Similar to our case, two A-T patients were diagnosed with RCC but only as a primary tumor.</p><p><strong>Conclusion: </strong>The combination of hematological and solid tumors underscores the significance of cancer predisposition in A-T patients. Given their heightened cancer risk, A-T patients should benefit from regular cancer screening and tailored therapeutic approaches to minimize treatment-related complications.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5351-5357"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144962852","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":"Infantile hypernatremic encephalopathy with osmotic demyelination - a diagnostic dilemma.","authors":"Madhu S Gaddigoudar, Sameer Peer, Roshwanth A, Balachandar Vellingiri, Arvinder Wander","doi":"10.1007/s10072-025-08436-9","DOIUrl":"10.1007/s10072-025-08436-9","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5543-5546"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144962900","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":"Predictor model for mild cognitive impairment in Parkinson's disease using visual rating scales.","authors":"Chiara Fornari, Claudia Meli, Giuseppe Rabini, Giulia Funghi, Chiara Speranza, Enrica Pierotti, Sebastian Hubner, Donatella Ottaviani, Raffaella Di Giacopo, Maria Chiara Malaguti, Francesca Zappini, Selene Schintu, Francesca Grassivaro, Andrada Ianus, Costanza Papagno, Jorge Jovicich, Alessandra Dodich, Luca Turella, Giorgio Giulio Fumagalli","doi":"10.1007/s10072-025-08311-7","DOIUrl":"10.1007/s10072-025-08311-7","url":null,"abstract":"<p><strong>Background: </strong>Early detection of cognitive impairment in Parkinson's disease (PD) may reduce the risk of developing dementia. The assessment of brain atrophy may be a biomarker to differentiate between PD patients with Mild Cognitive Impairment (PD-MCI) from the unimpaired patients (PD-CU). The study aims to investigate the detection of MCI in PD through the visual rating scales of atrophy.</p><p><strong>Method: </strong>Twenty-nine PD patients underwent a cognitive assessment and a structural magnetic resonance scan. Based on the cognitive assessment, PD patients were classified as PD-CU (n = 16) and PD-MCI (n = 13). Furthermore, 12 healthy adults (HC) were included as a control group. Brain atrophy was evaluated by two raters using a protocol of visual rating scales and the inter-rater agreement was computed using the weighted Kappa. ANCOVAs and post-hoc tests were used to determine the difference in atrophy between the three groups. Logistic regression analyses were performed to identify the best predictors in the differentiation between the groups.</p><p><strong>Result: </strong>The agreement between the raters was good to excellent. Higher scores of both the Medial Temporal lobe Atrophy (MTA) and the Occipital lobe (OC) scales were found in PD-MCI as compared to the PD-CU patients and HC. Lastly, MTA seemed a good predictor for differentiating the cognitive profile between the PD groups, while the OC between PD-MCI and HC.</p><p><strong>Conclusion: </strong>Visual assessment of MTA and OC may be a useful index to support the presence of cognitive impairment in PD patients, particularly as OC atrophy also discriminates between HC and cognitively impaired PD patients.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5049-5059"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144310186","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":"Effects of accelerated intermittent theta-burst stimulation combined with cognitive training on brain function in amnestic mild cognitive impairment patients.","authors":"Jiali Luo, Pan Shang, Zefeng Tan, Shuyun Huang, Yajing Liu, Yukai Wang, Qi Chen, Haiqun Xie","doi":"10.1007/s10072-025-08315-3","DOIUrl":"10.1007/s10072-025-08315-3","url":null,"abstract":"<p><strong>Objective: </strong>This double-blinded randomized trial investigated the effects of accelerated intermittent theta-burst stimulation (iTBS) and adaptive cognitive training on brain function in 24 patients with amnestic mild cognitive impairment (aMCI).</p><p><strong>Methods: </strong>Participants received real (n=12) or sham (n=12) iTBS targeting the left dorsolateral prefrontal cortex (DLPFC) thrice daily alongside cognitive training for 14 days. The Montreal Cognitive Assessment (MoCA), Alzheimer's Disease Assessment Scale-Cognitive Subscale (ADAS-Cog), and functional near-infrared spectroscopy (fNIRS) during rest and N-back tasks, which measure cognitive function and brain activity respectively, were administered pre-and post-intervention.</p><p><strong>Results: </strong>The active group demonstrated significant cognitive improvement. Compared to sham controls, postintervention fNIRS results revealed reduced global brain activation during the 1-back task in the active group, particularly in the left prefrontal cortex, and the brain activation correlated with reaction time. In the 2-back task after treatment, the active group exhibited decreased activation in the right motor cortex, while the sham group showed increased activation in the left motor cortex. The overall brain connectivity in the sham group enhanced following the intervention, with significant differences in the correlations between the left prefrontal cortex and left motor cortex between groups.</p><p><strong>Conclusion: </strong>These findings suggest that the combined intervention can effectively promote cognitive performance and brain function in aMCI patients. iTBS causes enhanced functional engagement of the left DLPFC, which further facilitates neural efficiency and restores the capacity to modulate the allocation of neural resources rather than relying on global compensatory hyperactivation. These may be the underlying neural mechanisms for memory improvement in aMCI patients (Chinese Clinical Trial Registry: ChiCTR2400087943).</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5379-5390"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626787","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":"Double trouble: a curious case of non-paraneoplastic anti-voltage gated calcium channel Lambert-Eaton myasthenic syndrome with concurrent anti-glutamic acid decarboxylase-65 antibodies.","authors":"Krzysztof Smolik, Zeno Bercini, Serena Coniglio, Alessandra Ariatti, Marco Mazzoli","doi":"10.1007/s10072-025-08325-1","DOIUrl":"10.1007/s10072-025-08325-1","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5559-5563"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144601077","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":"A case of IgG4RD presenting as spinal compression.","authors":"Andrea Salmaggi, Carlo Cesana, Maurizio Piparo, Alice Vanzati","doi":"10.1007/s10072-025-08334-0","DOIUrl":"10.1007/s10072-025-08334-0","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5533-5536"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144541499","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":"Lumboperitoneal and ventriculoperitoneal shunting for leptomeningeal disease-associated hydrocephalus: a systematic review and meta-analysis of postoperative outcomes and comparative effectiveness.","authors":"Bardia Hajikarimloo, Ibrahim Mohammadzadeh, Salem M Tos, Ali Mortezaei, Amirmohammad Bahri, Roozbeh Tavanaei, Mohammadhosein Akhlaghpasand, Fatemeh Ghorbanpouryami, Azin Ebrahimi, Dorsa Najari, Ehsan Bahrami Hezaveh, Mohammad Amin Habibi","doi":"10.1007/s10072-025-08321-5","DOIUrl":"10.1007/s10072-025-08321-5","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"4899-4912"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144476133","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}