Neurological Sciences最新文献

{"title":"A mendelian randomization analysis of the associations between haptoglobin and multiple sclerosis.","authors":"Xingxiao Huang, Qian Zeng, Yachun Hu, Xiaolei Shi","doi":"10.1007/s10072-024-07786-0","DOIUrl":"10.1007/s10072-024-07786-0","url":null,"abstract":"<p><strong>Background: </strong>Observational studies have suggested an association between plasma haptoglobin and multiple sclerosis (MS). Haptoglobin plays an important role in the pathogenesis of MS. However, whether it has a causal effect on MS remains unknown.</p><p><strong>Methods: </strong>We here used a two-sample bidirectional Mendelian randomization (MR) method to investigate the causality between haptoglobin and MS. Genetic variants associated with plasma haptoglobin from two independent genome wide association studies (GWASs) (used as the discovery and replication datasets, respectively) were applied as the exposure. Their causal effects on summary statistics of GWASs of MS and disease severity were evaluated using the inverse-variance weighted (IVW) approach as the main analysis component.</p><p><strong>Results: </strong>We found in both discovery and replication dataset that plasma haptoglobin was causally positively associated with the risk of MS (discovery: OR: 1.063, 95% CI: 1.022-1.106, P = 0.002; replication: OR: 1.041, 95% CI: 1.005-1.078, P = 0.026), but it was not associated with MS severity (discovery: OR: 1.017, 95% CI: 0.993-1.042, P = 0.168; replication: OR: 1.011, 95% CI: 0.987-1.036, P = 0.373). Besides, we did not detect any significant results in the reverse causation analysis.</p><p><strong>Conclusions: </strong>Our study provides evidence for the causal effects of plasma haptoglobin on the risk of MS.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5823-5832"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142470949","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":"Mortality of alzheimer's disease in Italy from 1980 to 2015.","authors":"Daiana Bezzini, Carmelo L Smeralda, Patrizio Pasqualetti, Stefano F Cappa, Lucia Kundisova, Simone Rossi, Monica Ulivelli","doi":"10.1007/s10072-024-07791-3","DOIUrl":"10.1007/s10072-024-07791-3","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate mortality for Alzheimer's Disease (AD) in Italy over more than three decades (1980-2015) and discuss the possible role of general and specific contributing factors.</p><p><strong>Methods: </strong>Mortality data were extracted by the Italian National Institute of Statistics: crude mortality rates were computed for sex and age, considering the whole country and its five main geographical sub-areas. Rates were standardized in two ways: directly (annual mortality rates AMRs) and indirectly (standardized mortality rates, SMRs). SMRs were then used to evaluate geographical differences; to study mortality trend, AMRs and joinpoint linear regression analysis were used.</p><p><strong>Results: </strong>Considering the entire period and the whole country, mortality rates were similar for females and males and for geographical regions, with the exception of the older age groups where mortality for AD in females slightly prevailed. In these older patients, a steep increase of mortality was seen starting from the current century. The increase in male mortality mirrored the national trend in North-West and Central Italy, but not in North-East, South, and the Islands, where it did not surge until the mid to late 1990s.</p><p><strong>Conclusions: </strong>the general increase of mortality is in line with international data and it reflects the increasing prevalence of the disease, likely due to increasing longevity, and to improvements in diagnostic accuracy. In addition, the accuracy of death certificate compilation could account for both geographical and temporal differences. Currently available drugs for AD do not seem to have an impact on mortality rates.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5731-5737"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11554694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142470965","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 effect of trunk control on sitting balance and upper extremity functions in patients with subacute stroke.","authors":"Lütfiye Akkurt, Güllü Aydın Yağcıoğlu, Cihan Caner Aksoy, Fatıma Yaman","doi":"10.1007/s10072-024-07817-w","DOIUrl":"10.1007/s10072-024-07817-w","url":null,"abstract":"<p><strong>Background: </strong>Impairment of trunk control is a common problem after stroke, and trunk impairment may affect many functions such as breathing, speech, limb movements and transfers.</p><p><strong>Objective: </strong>The present study was aimed to investigate the effect of trunk control on sitting balance and upper extremity functions in individuals with subacute stroke.</p><p><strong>Methods: </strong>A total of 30 patients with subacute stroke (14 female, 16 male) were included in this study. The mean age of the included patients was 59.80 ± 13.22 years, and the mean disease duration was 2.90 ± 1.38 months. Trunk Impairment Scale (TIS), Trunk Control Test (TCT), Function in Sitting Test (FIST), Fugl-Meyer Assessment Upper Extremity (FMA-UE), Brunnstrom Recovery Stages of Arm (BRS-A) and Brunnstrom Recovery Stages of Hand (BRS-H) were performed to the patients.</p><p><strong>Results: </strong>The results of our study showed that there was a strong positive correlation was found between TIS and FIST (r = 0.765, p < 0.001). There was also a positive moderate correlation between TCT and FIST, FMA-UE, BRS-A and BRS-H (r = 0.67, r = 0.49, r = 0.49, r = 0.44; p < 0.05; respectively). There was a positive moderate correlation between TIS and FMA-UE, BRS-A and BRS-H (r = 0.67, r = 0.65 and r = 0.58; p < 0.005; respectively).</p><p><strong>Conclusion: </strong>In conclusion, trunk control has been shown to be a factor associated with sitting balance and upper extremity function in patients with subacute stroke.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5807-5812"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142470970","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":"Transient vertical diplopia following ibuprofen intake: a case report.","authors":"Shalom Haggiag, Luca Prosperini, Federico Sadun, Alessandro Stasolla, Davide Lonati, Claudio Gasperini, Carla Tortorella","doi":"10.1007/s10072-024-07800-5","DOIUrl":"10.1007/s10072-024-07800-5","url":null,"abstract":"<p><p>Ibuprofen, a commonly used over-the-counter medication, is widely recognized for its effective pain relief properties but is also associated with various adverse effects, including rare ocular and neurological manifestations. We report a case of a 27-year-old male who experienced transient vertical diplopia following a standard ibuprofen dosage for back pain. Symptoms resolved promptly upon discontinuation of the drug, with normal findings on extensive clinical and laboratory evaluations. The clinical presentation, suggestive of skew deviation, implies central toxicity. This case underscores the potential for diplopia associated with NSAIDs like ibuprofen to be underdiagnosed and offers valuable insights into the central toxicity of ibuprofen. Further research is warranted to elucidate the underlying mechanisms and optimize patient care in similar scenarios.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5929-5932"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142470971","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":"Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review.","authors":"Yuewei Chi, Yue Qiao, Ying Ma","doi":"10.1007/s10072-024-07651-0","DOIUrl":"10.1007/s10072-024-07651-0","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) is a rare neuromuscular disease, which is characterized by the degeneration of motor neurons, leading to symmetrical muscle weakness and atrophy. Description of two novel SMN1 mutations (patient1: c.683T > A, p.Leu228Ter; patient2: c.347 T > C, p.Ile116 Thr). We reported two patients with SMN1 mutations with the clinical features, and provided a literature review of the previously reported 22 cases. Two SMA patients showed progressive proximal lower limb weakness and milder clinical symptom. In a total of 22 cases, the most commonly observed SMN1 gene alteration was missense mutation (55%), followed by splicing defect (27%), nonsense (9%) and frameshift (9%). We discuss the possible decisive role of these intragenic mutations in the phenotypic results, which enriched the SMN 1 fine mutation database.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5605-5615"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555286","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":"Therapeutic challenges and unmet needs in the management of myasthenia gravis: an Italian expert opinion.","authors":"Renato Mantegazza, Francesco Saccà, Giovanni Antonini, Domenico Marco Bonifati, Amelia Evoli, Francesco Habetswallner, Rocco Liguori, Elena Pegoraro, Carmelo Rodolico, Angelo Schenone, Manlio Sgarzi, Giovanni Pappagallo","doi":"10.1007/s10072-024-07577-7","DOIUrl":"10.1007/s10072-024-07577-7","url":null,"abstract":"<p><p>Myasthenia gravis (MG) is a rare, autoimmune, neurological disorder. Most MG patients have autoantibodies against acetylcholine receptors (AChRs). Some have autoantibodies against muscle-specific tyrosine kinase (MuSK) or lipoprotein-receptor-related protein 4 (LRP4), and some are seronegative. Standard of care, which includes anti-cholinesterase drugs, thymectomy, corticosteroids (CS), and off-label use of non-steroidal immunosuppressive drugs (NSISTs), is bounded by potential side effects and limited efficacy in refractory generalized MG (gMG) patients. This highlights the need for new therapeutic approaches for MG. Eculizumab, a monoclonal antibody that inhibits the complement system, has been recently approved in Italy for refractory gMG. A panel of 11 experts met to discuss unmet therapeutic needs in the acute and chronic phases of the disease, as well as the standard of care for refractory patients. Survival was emphasized as an acute phase outcome. In the chronic phase, persistent remission and early recognition of exacerbations to prevent myasthenic crisis and respiratory failure were considered crucial. Refractory patients require treatments with fast onset of action, improved tolerability, and the ability to slow disease progression and increase life expectancy. The Panel agreed that eculizumab would presumably meet the therapeutic needs of many refractory gMG patients. The panel concluded that the unmet needs of current standard of care treatments for gMG are significant. Evaluating new therapeutic options accurately is essential to find the best balance between efficacy and tolerability for each patient. Collecting real-world data on novel molecules in routine clinical practice is necessary to address unmet needs.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5671-5683"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141534928","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":"Idiopathic extracranial internal carotid artery vasospasm: case report and systematic review.","authors":"Jianxun Fang, Nan Jiang, Yaping Zhou, Hang Shen, Fei Han, Jun Ni","doi":"10.1007/s10072-024-07784-2","DOIUrl":"10.1007/s10072-024-07784-2","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic extracranial internal carotid artery vasospasm (IEICAV) is characterized by spontaneous, recurrent, and reversible vasoconstriction of the cervical internal carotid artery (ICA). The etiology remains elusive, and no effective treatment has been established. The present study presents a case of recurrent IEICAV with migraine-like symptoms and conduct a systematic review on IEICAV.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on a case involving medical history, radiological data, treatment, and outcomes. A systematic review of published IEICAV cases was conducted through database searching in PubMed, Embase, and Web of Science from inception until May 2024.</p><p><strong>Results: </strong>A 22-year-old female with recurrent headaches, blurred vision, and aphasia was diagnosed with bilateral IEICAV through angiography. Magnetic resonance imaging demonstrated a novel cerebral infarction during a prolonged episode. Treatment with topiramate successfully controlled recurrence in a 5-month follow-up. The systematic review included 36 IEICAV cases reported by literature. Bilateral involvement of extracranial ICAs was observed in 25 (69.4%) cases. Cerebral infarction was identified in 31 (88.9%) cases. Despite various treatment attempts including vasodilators, antiplatelet, anticoagulants, glucocorticoids, and other medical or surgical intervention, the recurrent rate increased in 5 (13.9%) cases, decreased in 10 (27.8%) cases, and remained unchanged in 4 (11.1%) cases.</p><p><strong>Conclusions: </strong>The elusive mechanism of IEICAV brings great difficulty into managing recurrence. Preventing IEICAV-related infarction related to secondary factors like hypoperfusion may be crucial for maintaining life quality. Further research is essential for advancing treatment strategies and a case-by-case approach is needed in identifying and eliminating possible triggers for vasospastic episodes.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5639-5655"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361847","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":"Cognitive function in Parkinson's disease: associations with perivascular space in basal ganglia.","authors":"Zhenglong Luo, Yangfan Zhu, Yongyun Zhu, Bin Liu, Yuxia Li, Lei Yin, Jie Liu, Zhong Xu, Hui Ren, Xinglong Yang","doi":"10.1007/s10072-024-07729-9","DOIUrl":"10.1007/s10072-024-07729-9","url":null,"abstract":"<p><strong>Background: </strong>Cognitive impairment is one of the most common symptoms of Parkinson's disease (PD), and may be detectable through changes in neural features visualized by magnetic resonance imaging (MRI). Mild cognitive impairment is a transitional state between normal aging and dementia, and early recognition of Parkinson's disease with mild cognitive impairment (PD-MCI) can help improve the quality of life and treatment for patients. This study investigated the association of enlarged perivascular space (EPVS) and white matter hyperintensity (WMH) with PD-MCI.</p><p><strong>Aims: </strong>This study aimed to evaluate whether EPVS and WMH can be used as potential MRI markers for PD-MCI.</p><p><strong>Methods: </strong>This retrospective study involved 200 patients with PD who underwent cranial MRI in our hospital from April 2021 to April 2022. Patients were divided into those with no cognitive impairment (PD-NCI) or mild cognitive impairment. Uni- and multivariate logistic regression analyzed associations of EPVS, WMH, and clinicodemographic characteristics with cognitive decline.</p><p><strong>Results: </strong>Univariate regression identified severe EPVS in basal ganglia, severe WMH, older age, late-onset, male sex, low educational level, longer duration of disease, low triglycerides, low uric acid, and low scores on the Mini-mental State Exam as risk factors for PD-MCI. After adjusting for clinicodemographic risk factors in multivariate regression, low education level and EPVS in basal ganglia remained risk factors for cognitive impairment.</p><p><strong>Conclusions: </strong>Severe EPVS in basal ganglia and poor education, but not WMH, are independent risk factors of PD-MCI. Our findings suggest that non-invasive detection of EPVS in basal ganglia by MRI may be a valuable early indicator of cognitive decline in PD patients.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5973-5981"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142110005","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":"Jaw-opening dystonia in Parkinson's disease improved by foslevodopa-foscarbidopa continuous subcutaneous infusion: a case report.","authors":"Motohiro Okumura, Yohei Mukai, Jun Tanimura, Yuji Takahashi","doi":"10.1007/s10072-024-07740-0","DOIUrl":"10.1007/s10072-024-07740-0","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5939-5941"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142120334","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 spectrum of anti-GQ1B antibody syndrome: beyond Miller Fisher syndrome and Bickerstaff brainstem encephalitis.","authors":"Ciro Maria Noioso, Liliana Bevilacqua, Gabriella Maria Acerra, Paola Della Valle, Marina Serio, Agnese Pecoraro, Annalisa Rienzo, Umberto De Marca, Giuseppe De Biasi, Claudia Vinciguerra, Giuseppe Piscosquito, Antonella Toriello, Stefano Tozza, Paolo Barone, Aniello Iovino","doi":"10.1007/s10072-024-07686-3","DOIUrl":"10.1007/s10072-024-07686-3","url":null,"abstract":"<p><strong>Introduction: </strong>Since the initial identification of Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE),significant milestones have been achieved in understanding these diseases.Discoveries of common serum antibodies (IgG anti-GQ1b), antecedent infections, neurophysiological data, andneuroimaging suggested a shared autoimmune pathogenetic mechanism rather than distinct pathogenesis, leadingto the hypothesis that both diseases are part of a unified syndrome, termed \"Fisher-Bickerstaff syndrome\". The subsequent identification of atypical anti-GQ1b-positive forms expanded the classification to a broader condition known as \"Anti-GQ1b-Antibody syndrome\".</p><p><strong>Methods: </strong>An exhaustive literature review was conducted, analyzing a substantial body of research spanning from the initialdescriptions of the syndrome's components to recent developments in diagnostic classification and researchperspectives.</p><p><strong>Results: </strong>Anti-GQ1b syndrome encompasses a continuous spectrum of conditions defined by a common serological profilewith varying degrees of peripheral (PNS) and central nervous system (CNS) involvement. MFS and BBE represent theopposite ends of this spectrum, with MFS primarily affecting the PNS and BBE predominantly involving the CNS.Recently identified atypical forms, such as acute ophthalmoparesis, acute ataxic neuropathy withoutophthalmoparesis, Guillain-Barré syndrome (GBS) with ophthalmoparesis, MFS-GBS and BBE-GBS overlap syndromes,have broadened this spectrum.</p><p><strong>Conclusion: </strong>This work aims to provide an extensive, detailed, and updated overview of all aspects of the anti-GQ1b syndromewith the intention of serving as a stepping stone for further shaping thereof. Special attention was given to therecently identified atypical forms, underscoring their significance in redefining the boundaries of the syndrome.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5657-5669"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141580398","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}