Neurological Sciences最新文献

{"title":"Exercise therapy can effectively improve trunk performance and sitting balance in spinal cord injury: a systematic review and meta-analysis.","authors":"Hiroki Okawara, Tomonori Sawada, Saki Onuki, Keiko Sugai, Toshiki Okubo, Masahiro Ozaki, Osahiko Tsuji, Narihito Nagoshi, Yasunori Sato, Masaya Nakamura","doi":"10.1007/s10072-024-07960-4","DOIUrl":"10.1007/s10072-024-07960-4","url":null,"abstract":"<p><strong>Objective: </strong>To determine the effects of exercise on trunk performance and balance in patients with spinal cord injury (SCI).</p><p><strong>Methods: </strong>We searched the databases MEDLINE, Cochrane Library, EMBASE, Physiotherapy Evidence Database, Web of Science, PsycINFO, and CINAHL from inception to June 2020. Our search targeted studies such as randomized or non-randomized controlled trials and randomized crossover trials that evaluated the effects of exercise on trunk performance and balance in patients with SCI.</p><p><strong>Results: </strong>Seventeen eligible studies with 432 patients with SCI were included in the meta-analysis. The exercise significantly improved several measures: Berg Balance Scale (mean differences [MD] = 4.58; 95% confidence intervals [CI], 0.35, 8.8; p = 0.03), Modified Functional Reach Test (MD = 5.29; 95% CI, 4.16, 6.42; p < 0.01), T-shirt test (MD = 5.62; 95% CI, - 3.82, - 7.42; p < 0.01), Timed Up and Go (MD = - 1.70; 95% CI, - 0.23, - 3.16; p = 0.02). Improvements were also noted in total static sitting balance (standardized mean differences [SMD] = 1.21; 95% CI, 0.79, 1.63; p < 0.01), and total dynamic sitting balance (SMD = 1.01; 95% CI, 0.30, 1.73; p < 0.01). In the subgroup analysis, exercise with sensory input enhancement significantly improved total static (SMD = 1.37; 95% CI, 0.64, 2.11; p < 0.01) and total dynamic sitting balance (SMD = 1.78; 95% CI, 0.28, 3.29; p = 0.02).</p><p><strong>Conclusions: </strong>Exercise may improve sitting balance in patients with SCI. Moreover, enhancement of sensory input had an add-on effect in improving sitting balance.</p><p><strong>Registration: </strong>PROSPERO (CRD42020185904).</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1581-1597"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910105","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 rare family of SMA combined with type B Kufs disease.","authors":"Feifei Tian, Jing Li, Ziyang Wu, Xin Li, Liangtao Zhao, Zhipeng Yan, Wei Yuan, Haiping Wei, Kai Li, Guode Wu","doi":"10.1007/s10072-024-07949-z","DOIUrl":"10.1007/s10072-024-07949-z","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1929-1932"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847047","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":"FLAMES and holocord involvement in a child with myelin oligodendrocyte glycoprotein antibody associated disease.","authors":"Ramandeep Singh, Archit Goel, Arvinder Wander","doi":"10.1007/s10072-024-07955-1","DOIUrl":"10.1007/s10072-024-07955-1","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1951-1953"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877546","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 striatal necrosis in a case with ADAR1-related Aicardi Goutières Syndrome.","authors":"Miraç Yıldırım, Fatma Pınar Tabanlı, Ömer Bektaş, Serap Teber","doi":"10.1007/s10072-024-07977-9","DOIUrl":"10.1007/s10072-024-07977-9","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1955-1956"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915397","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":"Intermittent theta burst stimulation vs. high-frequency repetitive transcranial magnetic stimulation for post-stroke dysfunction: a Bayesian model-based network meta-analysis of RCTs.","authors":"Yanbing Huang, Caihui Li, Rongda Cai, Tianlai Lin, Weiwen Chen","doi":"10.1007/s10072-024-07918-6","DOIUrl":"10.1007/s10072-024-07918-6","url":null,"abstract":"<p><strong>Objective: </strong>This research aims to comprehensively assess the efficacy of intermittent theta-burst stimulation (iTBS) vs. high-frequency repetitive transcranial magnetic stimulation (HF-rTMS) in post-stroke dysfunction.</p><p><strong>Materials and methods: </strong>Until January 2024, extensive electronic database searches were conducted (PubMed, Embase, Cochrane Library, Web of Science, etc.). Fugl-Meyer Assessment for Upper Extremities (FMA-UE) was used to assess upper limb (UL) dysfunction; post-stroke dysphagia (PSD) was identified by Standardized Swallowing Assessment (SSA), Fiberoptic Endoscopic Dysphagia Severity Scale (FEDSS), and Penetration/Aspiration Scale (PAS). Results were analyzed by network meta-analysis (NMA), and the mean difference (MD) and 95% confidence intervals (95% CI) were also reported. We conducted a descriptive analysis due to the inability to synthesize data on post-stroke cognitive impairment (PSCI).</p><p><strong>Results: </strong>19 studies were included for NMA analysis. For UL disorder, the efficacy of treatments was ranked as HF-rTMS [MD (95%CI):3.00 (1.69,4.31)], iTBS [MD (95%CI): 2.16 (0.84, 3.50)], and sham stimulation (reference). For PSD, the efficacy of treatment to reduce scores of FEDSS or SSA were iTBS [FEDSS, MD (95%CI): -0.80 (-1.13, -0.47); SSA, MD (95%CI): -3.37 (-4.36, -2.38)], HF-rTMS [FEDSS, MD (95%CI): -0.43 (-0.76, -0.10); SSA, MD (95%CI): -2.62 (-3.91, -1.35)], and sham stimulation(reference). Descriptive analysis of PSCI found that both iTBS and HF-rTMS were effective in improving PSCI.</p><p><strong>Conclusions: </strong>HF-rTMS demonstrates superior efficacy in UL dysfunction, while iTBS is more effective in PSD. Clinicians should carefully evaluate the type and severity of post-stroke dysfunction in each patient to select the most appropriate treatment.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1525-1539"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142872487","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":"A century of EEG: unveiling the electrical nature of epilepsy.","authors":"Francesco Brigo","doi":"10.1007/s10072-024-07919-5","DOIUrl":"10.1007/s10072-024-07919-5","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1911-1913"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801836","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 features of myasthenia gravis with thyroid eye disease: identifying critical gaps and next steps.","authors":"Hung Youl Seok","doi":"10.1007/s10072-024-07944-4","DOIUrl":"10.1007/s10072-024-07944-4","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1949-1950"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142822323","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 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}