Neurological Sciences最新文献

{"title":"The hidden struggles of neurofibromatosis patients: overcoming stigmatization and confronting misconceptions.","authors":"Muhammad Liaquat Raza, Syed Muhammad Farzan Ali Warsi, Zainab Hasan","doi":"10.1007/s10072-025-08389-z","DOIUrl":"https://doi.org/10.1007/s10072-025-08389-z","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144760610","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":"Role of anxiety in exercise intolerance and autonomic nervous system dysfunction post-concussion.","authors":"Aaron J Zynda, Alicia M Trbovich, Faith Kehinde, Christopher Burley, Michael W Collins, David O Okonkwo, Anne Mucha, Sarah Ostop, Cyndi Holland, Courtney Perry, Melissa N Womble, Sabrina Jennings, Sheri Fedor, Christina Dollar, Kori J Durfee, R J Elbin, Anthony P Kontos","doi":"10.1007/s10072-025-08204-9","DOIUrl":"10.1007/s10072-025-08204-9","url":null,"abstract":"<p><strong>Objective: </strong>To compare autonomic nervous system (ANS) response using the Buffalo Concussion Bike Test (BCBT) between adult post-concussion patients with and without pre-existing and post-injury anxiety.</p><p><strong>Design: </strong>Cross-sectional cohort study of participants from the Targeted, Multidomain (T-MD) Treatment for Concussion Randomized Controlled Trial.</p><p><strong>Setting: </strong>Two concussion specialty clinics.</p><p><strong>Participants: </strong>Ages 18-49 years, 8 days to 6 months from injury, without a history of cardiovascular/neurological/vestibular disorders. 256 participants were eligible, 120 declined, 136 enrolled, and 30 were excluded.</p><p><strong>Exposures: </strong>Participants completed the BCBT at a baseline study visit following initial clinical evaluation.</p><p><strong>Main outcomes and measures: </strong>Number of BCBT stages completed and Visual Analogue Scale (VAS), heart rate (HR), blood pressure (BP), and Ratings of Perceived Exertion (RPE) pre- and post-BCBT.</p><p><strong>Results: </strong>106 participants (age = 25.5 [12.5], 66 [62.3%] female) were included, 44 (41.5%) with pre-existing anxiety, 61 (57.6%) without pre-existing anxiety, 33 (31.1%) with post-injury anxiety, and 73 (68.9%) without post-injury anxiety. Eighteen (17.0%) were in both anxiety groups. Results supported a significant group x time interaction in participants with pre-existing anxiety for increased diastolic BP (F[1,97] = 5.03, p = 0.03) and VAS (F[1,99] = 5.05, p = 0.03) while controlling for covariates. Participants with pre-existing anxiety (median = 8[4]) and post-injury anxiety (median = 8[5]) completed fewer BCBT stages than those without pre-existing (median = 11[6], p < 0.01) and post-injury (median = 10[6], p = 0.03) anxiety.</p><p><strong>Conclusions: </strong>Adults with pre-existing and post-injury anxiety experienced altered physiological responses to exercise post-concussion and completed fewer stages of the BCBT. Anxiety should be considered by clinicians when interpreting findings from exercise intolerance tests such as the BCBT.</p><p><strong>Trial registration: </strong>www.</p><p><strong>Clinicaltrials: </strong>gov ; identifier: NCT04549532; https://clinicaltrials.gov/study/NCT04549532.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3909-3918"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030557","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":"Bilateral optic neuropathy as first neurological sign of Central Nervous System (CNS) involvement in indolent chronic lymphocytic leukemia.","authors":"Paola Ciasca, Sebastiano Crisafulli, Ludovica Gargiulo, Stefania Bianchi Marzoli, Massimo Magagnoli, Marco Moscatelli, Elena Anghileri","doi":"10.1007/s10072-025-08118-6","DOIUrl":"10.1007/s10072-025-08118-6","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"4087-4090"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710841","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":"The role of neurology in the development of community healthcare within the Italian national health service. The position of the Italian society of neurology (SIN).","authors":"Pietro Ferrara, Vincenzo Andreone, Fabio Bandini, Massimo Del Sette, Marco Longoni, Roberto Marconi, Carlo Alberto Mariani, Francesca Romana Pezzella, Rocco Quatrale, Carla Zanferrari, Maria Luisa Zedde, Alessandro Padovani","doi":"10.1007/s10072-025-08237-0","DOIUrl":"10.1007/s10072-025-08237-0","url":null,"abstract":"<p><p>Neurological disorders rank within the leading causes of disability and premature death in Europe and Italy, and their prevalence is expected to rise due to the aging population. In Italy, the current approach to neurological care is primarily centered in hospitals. However, an effective community-based neurology care system would ensure that patients receive appropriate care in the right setting, from the right healthcare professional, and at the right time. This \"precision\" approach would also alleviate the burden on acute neurology facilities. To address the growing demand for neurological care services, experts from the Italian Society of Neurology (SIN) have launched a nationwide initiative aimed at supporting a transformative program in local health and care systems, enabling them to better meet the needs of neurological patients. This document presents a set of consensus recommendations for redesigning neurological care in Italy, with the objective of aligning services with the health requirements of neurological patients and establishing an integrated model for managing neurological disorders.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3363-3375"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144310196","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":"Intrathecal treatment of Anti-N-Methyl-D-Aspartate receptor encephalitis: a promising approach for refractory cases.","authors":"Xiaobo Yang","doi":"10.1007/s10072-025-08134-6","DOIUrl":"10.1007/s10072-025-08134-6","url":null,"abstract":"<p><strong>Background: </strong>Anti-N-methyl-D-aspartate receptor encephalitis is a severe neurological disorder. While standard treatments work for many patients, up to 25% are resistant to these treatments. In such challenging cases, there is growing interest in using intrathecal approaches.</p><p><strong>Methods: </strong>A narrative review of relevant papers was conducted.</p><p><strong>Results: </strong>Case reports and case series have demonstrated the successful use of intrathecal methotrexate, either alone or in combination with steroids, particularly in pediatric patients. Additionally, intrathecal rituximab has shown promise in select cases.</p><p><strong>Conclusions: </strong>Although outcomes vary, this approach appears to be safe and has the potential to rescue refractory cases.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3495-3504"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699593","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":"Short neck as a cause of stroke? Bilateral vertebral artery dissection in a patient with Klippel-Feil Syndrome.","authors":"Laura Del Pino Tejado, Marta Vales Montero, Ana María Iglesias Mohedano, Andrés García Pastor, Fernando Díaz Otero, Pilar Vázquez Alén, Yolanda Fernández Bullido, Antonio Gil Núñez","doi":"10.1007/s10072-025-08157-z","DOIUrl":"10.1007/s10072-025-08157-z","url":null,"abstract":"<p><p>Vertebral dissections are a recognized cause of stroke in young people. Its association with Klippel-Feil Syndrome (KFS) is unusual. We describe the case of a male with simultaneous bilateral vertebral artery dissection with SKF and review the related literature. A 30-year-old male, with no relevant medical history, was transferred to the hospital with code stroke due to dizziness, dysarthria and clumsiness of the right limbs of sudden onset. Eight days prior, he had experienced intense right-sided neck pain after making a sudden neck turn while playing football, which persisted over the days. Phenotypically, he had a noticeable short neck. A cranial CT scan showed an acute right cerebellar infarction and an AngioCT scan showed bilateral vertebral artery dissection. An MRI revealed vertebral artery wall signal hyperintensity, compatible with intramural hematoma. The findings were confirmed by arteriography. Fusion of the cervical vertebrae C2-C3 compatible with SKF was observed at the same level where both dissections were observed. The patient was discharged asymptomatic with antiplatelet treatment. He received single antiplatelet therapy with 100 mg aspirin, remaining stable without recurrences. A follow-up MR angiogram showed resolution of the lesions after 3 months. SKF is a rare malformation consisting of a triad of fusion of cervical vertebrae, short neck and low hairline implantation. Its association with stroke is scarce and there are few descriptions of cases, none with bilateral dissection.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3993-3996"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780743","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":"Cerebral small vessel disease associated with COL4A1 and COL4A2 duplication: clinical and MRI features resembling CADASIL.","authors":"Lili Chen, Shuang Li, Fei Xie, Xingyue Hu, Wen Lv","doi":"10.1007/s10072-025-08175-x","DOIUrl":"10.1007/s10072-025-08175-x","url":null,"abstract":"<p><strong>Background: </strong>Large duplications or triplications involving the 13q33-34 chromosomal region, which encompass the COL4A1 and COL4A2 genes, have been reported in association with cerebral small vessel disease (CSVD) in a few patients. Herein, we report an additional case of CSVD linked to a duplication of COL4A1 and COL4A2 and provide a detailed summary of the associated clinical and MRI findings.</p><p><strong>Methods: </strong>A patient with CSVD underwent detailed clinical and neuroimaging evaluations. Targeted next-generation sequencing (NGS) and copy number variation sequencing (CNV-seq) based on whole genome sequencing were used to identify the genetic basis of the disease.</p><p><strong>Results: </strong>The patient experienced his first ischemic stroke at age 51. Cranial MRI revealed extensive acute and chronic lacunar infarcts and white matter hyperintensities across both cerebral hemispheres, with involvement of the anterior temporal lobe and the external capsule. Bilateral thalamic microbleeds were also noted. The clinical features and MRI findings are similar to those observed in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Targeted NGS and CNV-seq analysis identified a duplication in the region of chromosome 13, which included the COL4A1 and COL4A2 genes.</p><p><strong>Conclusions: </strong>This case provides further evidence supporting the association of CNVs in COL4A1 and COL4A2 with CSVD. When hereditary CSVD is suspected and no micro-mutations in CSVD-associated genes are identified, CNV analysis of the 13q region should be considered.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3987-3991"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008508","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 and imaging characteristics of corticosteroid-responsive chronic lymphocytic inflammation with Pontine perivascular enhancement syndrome (CLIPPERS): an analysis of 9 cases.","authors":"Xiaosa Sun, Xiaowen Li, Hafiz Khuram Raza, Jingwen Yang, Ying Ji, Xinyi Yuan, Yu Kong, Jin Tian, Yaqin Gu, Hao Chen, Li Chen","doi":"10.1007/s10072-025-08208-5","DOIUrl":"10.1007/s10072-025-08208-5","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to elucidate the clinical and radiological profiles of Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS), targeting an enhanced comprehension and more efficient diagnosis of this rare disorder among medical professionals.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study, encompassing a detailed analysis of clinical and imaging data from nine CLIPPERS patients diagnosed between 2016 and 2023 at Xuzhou Medical University Affiliated Hospital and Beijing Xuanwu Hospital.</p><p><strong>Results: </strong>Our study included nine patients, comprising seven males and two females, with ages varying from 9 to 79 years.The clinical spectrum was broad, including lower limb weakness (5 cases), unsteady gait (6), lower limb numbness (2), visual impairments (4), dizziness and headaches (5), cognitive impairments (2), facial sensory abnormalities (2), language disturbances (4), nausea and vomiting (1), limb twitching (1), fever (1), and chest and abdominal discomfort (1).Brain MRI scans uniformly disclosed multifocal lesions with slightly prolonged T1 and pronounced T2 signal characteristics in the brainstem, notably in the pons, as well as in bilateral thalami, cerebellum, and basal ganglia. High signal intensity on FLAIR sequences and variable signal intensity on DWI sequences were observed, with post-contrast imaging exhibiting the pathognomonic punctate and curvilinear 'pepper-like' enhancement. Cervical spinal cord MRIs from two patients mirrored this enhancement pattern. Pathological examination via biopsy in two cases-one of brain tissue and one of spinal cord tissue-demonstrated perivascular infiltration of CD3 + T lymphocytes, accompanied by CD20+, CD5+, and CD68 + cell infiltrations. A favorable response to corticosteroid therapy was observed across all patients, with marked amelioration in clinical symptoms and radiological findings. Remarkably, one patient, diagnosed with classical Hodgkin's lymphoma two years post-onset, showed no signs of recurrence on subsequent PET-CT scans following standard chemotherapy. The remaining patients were either on steroid maintenance therapy or received a combination of steroids and immunosuppressants, with symptomatic improvement noted in all.</p><p><strong>Conclusions: </strong>CLIPPERS syndrome is distinguished by its characteristic MRI features and demonstrates a robust response to corticosteroid therapy, leading to rapid clinical and radiological improvement. In scenarios with ambiguous diagnosis, pathological tissue biopsy offers essential confirmation.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3819-3826"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012667","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":"Predicting response to non-invasive brain stimulation in post-stroke upper extremity motor impairment: the importance of neurophysiological and clinical biomarkers.","authors":"Gabriel Barreto, André Fonseca, Rhayssa Albuquerque, Camilla Santos, Rodrigo Brito, Daniele Piscitelli, Maria das Graças Rodrigues de Araújo, Katia Monte-Silva","doi":"10.1007/s10072-025-08156-0","DOIUrl":"10.1007/s10072-025-08156-0","url":null,"abstract":"<p><strong>Background: </strong>Non-invasive brain stimulation (NIBS) is a promising approach to enhance upper extremity motor impairment (UEMI) recovery in post-stroke individuals. However, variability in treatment response poses a significant challenge. Identifying neurophysiological and clinical biomarkers that predict NIBS response could improve personalization and treatment efficacy.</p><p><strong>Objectives: </strong>This study aims to determine the predictive relevance of neurophysiological and clinical biomarkers for responses to NIBS in post-stroke UEMI using a machine learning model.</p><p><strong>Methods: </strong>This secondary analysis involved 63 post-stroke individuals with UEMI (age 56.9 ± 11.1 years). A support vector machine model was used to assess the importance of two neurophysiological biomarkers-brain activity in the lesioned hemisphere quantified using quantitative electroencephalography (power ratio index, PRI) and corticospinal tract (CST) integrity assessed via transcranial magnetic stimulation-and one clinical biomarker-the level of UEMI assessed with Fugl-Meyer upper extremity (FMA-UE)-in predicting responders (ΔFMA-UE ≥ 5 points) and those with excellent response (ΔFMA-UE ≥ 10 points) to NIBS based on the change of FMA-UE before and after treatment.</p><p><strong>Results: </strong>Of the 63 participants, 42 (65%) were classified as responders, and 14 (22%) demonstrated excellent responses. Predictive importance for responders was 0.78 for PRI-LH, 0.21 for UEMI level, and 0.01 for CST integrity. For predicting excellent responses, PRI-LH had an importance of 0.39, UEMI level 0.37, and CST integrity 0.24.</p><p><strong>Conclusions: </strong>The study highlights the importance of electrical brain activity in the LH and UEMI level in predicting NIBS responders and excellent responses, with CST integrity being particularly valuable for excellent outcomes.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3747-3755"},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144046037","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":"The effects of transcranial magnetic stimulation in motor symptoms of Parkinson's disease: an overview of systematic reviews with meta-analysis.","authors":"Daniele Conte, Anna Roman, Yvonne Beorchia, Chiara Pinzini, Luigi Castriotta, Mariarosaria Valente","doi":"10.1007/s10072-025-08189-5","DOIUrl":"10.1007/s10072-025-08189-5","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease is a progressive neurodegenerative disorder that causes significant motor function limitations, substantially impacting the quality of life of affected individuals and their caregivers. While the currently available pharmacological therapy with levodopa can alleviate symptoms, identifying a treatment that achieves similar results with fewer adverse effects would be highly beneficial. Transcranial Magnetic Stimulation is a non-invasive stimulation of brain tissue that generates a magnetic field to modulate cortical excitability. To date, it has primarily been validated for the treatment of psychiatric conditions, but it is increasingly being used in the management of movement disorders.</p><p><strong>Objective: </strong>Although several systematic reviews with meta-analysis have been conducted on this topic, discrepancies remain in their findings. To address these inconsistencies, we conducted this overview of systematic reviews with meta-analyses to synthesise the available evidence and provide a comprehensive summary that can guide clinicians in their practice.</p><p><strong>Results: </strong>Evidence from 21 systematic reviews with meta-analyses, including 107 unique primary studies, suggests, with low to moderate certainty, that high-frequency stimulation of the primary and supplementary motor cortex significantly improves general motor impairment, gait, functional mobility, and balance in patients with Parkinson's disease, with minimal side effects. Other stimulation parameters, such as a higher number of sessions, a greater number of pulses per session, and the use of the F8 coil type, appear to enhance these effects. However, further research is needed to strengthen these findings. Currently, definitive conclusions cannot be drawn regarding the influence of patient characteristics on treatment outcomes.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"3405-3418"},"PeriodicalIF":2.4,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972117","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}