Neurological Sciences最新文献_第3页

Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy. 肌强直性营养不良症：临床特征、分子机制、管理和基因治疗的最新进展。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-01 Epub Date: 2024-12-07 DOI: 10.1007/s10072-024-07826-9

Martina Rimoldi, Sabrina Lucchiari, Serena Pagliarani, Giovanni Meola, Giacomo Pietro Comi, Elena Abati

{"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":"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.","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}

引用次数: 0

Care pathways for individuals with post-anoxic disorder of consciousness (CaPIADoC): an inter-society Consensus Conference. 缺氧后意识障碍患者的护理路径（CaPIADoC）：学会间共识会议。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-01 Epub Date: 2024-11-26 DOI: 10.1007/s10072-024-07875-0

Anna Estraneo, Alfonso Magliacano, Francesco De Bellis, Aldo Amantini, Susanna Lavezzi, Antonello Grippo

{"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":"Background: 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).Objective: The present inter-society Consensus Conference aimed at addressing current debates on diagnostic and prognostic procedures.Methods: 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.Results: 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.Conclusion: 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.","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}

引用次数: 0

Phenotypic patterns and response to immunotherapy in a group of Very Late Onset Myasthenia Gravis: a single center study. 一组极晚发性重症肌无力患者的表型模式和免疫治疗反应：单中心研究。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-01 Epub Date: 2024-12-09 DOI: 10.1007/s10072-024-07920-y

Aigli G Vakrakou, Eleni Strataki, Loukas Lymperopoulos, Dimitrios Panaretos, Vasiliki Zouvelou

{"title":"Phenotypic patterns and response to immunotherapy in a group of Very Late Onset Myasthenia Gravis: a single center study.","authors":"Aigli G Vakrakou, Eleni Strataki, Loukas Lymperopoulos, Dimitrios Panaretos, Vasiliki Zouvelou","doi":"10.1007/s10072-024-07920-y","DOIUrl":"10.1007/s10072-024-07920-y","url":null,"abstract":"Background/aims: The goal of this study was to assess the clinical profile of myasthenia gravis (MG) in patients diagnosed above 65-years of age (VLOMG) and identify clinical/serological parameters associated with their MG status and prognosis.Methods: This was a retrospective assessment of consecutive patients with VLOMG (n = 70) Demographics, clinical characteristics, medical comorbidities, the Myasthenia Gravis Foundation of America (MGFA) severity scale scores, and MGFA Post-Intervention Status (MGFA-PIS) were collected.Results: The research population was diagnosed with MG at an average age of 73.16 ± 6.33 years, a male/female ratio of 2.3/1 and a mean follow-up time of 53.09 ± 46.37 months. The titer of acetylcholine receptor antibodies (AChR Abs) was positive at 95.71% of patients. The predominant distribution of myasthenic weakness was oculobulbar (63.79%). At the last follow-up, 75.71% of patients reached Pharmacological-Remission (PR) or Minimal-Manifestations (MM), 17% manifested improvement and 7.14% were clinically unchanged, worse or dead, according to MGFA-PIS. Most patients responded to low doses of steroids. Males and patients with generalized muscle involvement upon disease-onset were more likely to reach PR or MM than females or ocular presentation (OR = 3.84 and O.18, respectively). Six patients (8.57%) were treated with at least one cycle of rituximab due to disease severity. Five (83%) reached PR or MM and one improved (mean follow up time: 7.5 months).Interpretation: We found that patients with VLOMG are usually males, with oculobulbar muscle involvement and positive titer of AChR Abs. The majority had a favorable prognosis and an adequate response to low doses of prednisolone and long-term immunosuppression.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1833-1842"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142795044","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}

引用次数: 0

Exploring neurosurgical interventions in Alzheimer's disease: current perspectives and future directions. 探索神经外科干预阿尔茨海默病：目前的观点和未来的方向。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-01 Epub Date: 2024-12-10 DOI: 10.1007/s10072-024-07925-7

Nachammai Kathiresan, Chandrabose Selvaraj, Gowtham Kumar Subbaraj, Kulanthaivel Langeswaran

引用次数: 0

Surgery of brainstem cavernous malformations: surgical nuances and outcomes of a monocentric series of 34 patients. 脑干海绵体畸形的手术：34例单中心系列患者的手术差异和结果。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-01 Epub Date: 2024-12-17 DOI: 10.1007/s10072-024-07943-5

Jacopo Falco, Morgan Broggi, Francesco Acerbi, Marco Schiariti, Michela E Moretti, Francesco Restelli, Paola Lanteri, Chiara Foschini, Giovanni Broggi, Paolo Ferroli

{"title":"Surgery of brainstem cavernous malformations: surgical nuances and outcomes of a monocentric series of 34 patients.","authors":"Jacopo Falco, Morgan Broggi, Francesco Acerbi, Marco Schiariti, Michela E Moretti, Francesco Restelli, Paola Lanteri, Chiara Foschini, Giovanni Broggi, Paolo Ferroli","doi":"10.1007/s10072-024-07943-5","DOIUrl":"10.1007/s10072-024-07943-5","url":null,"abstract":"Background: Brainstem cavernous malformations (BCM) constitute one of the most controversial and challenging neurological pathologies: both natural course and surgical manipulation can lead to severe neurological symptoms by direct compression or following hemorrhage of this highly eloquent brain region.Methods: The vascular section of the prospectively collected neurosurgical database of our center (2011-2023) was retrospectively reviewed, seeking all patients operated on for a sporadic BCM. Clinical, radiological and surgical data, operative records and videos were analyzed by independent reviewers with the assistance of a dedicated neuropsychologist, blinded to the hospital course.Results: Thirty-four patients aged between 19 and 70 years were identified and considered for analyses, with different brainstem localizations. The clinical onset was hemorrhagic in almost all cases: the average mRS on admission was 2.47 (21 patients ≤ 2). Surgical treatment was performed on average 15.1 weeks after the last bleeding. At hospital discharge, the mean mRS was 3.26 (6 patients ≤ 2). After a mean follow-up of 56.59 weeks, 29 patients (85.3%) presented an improved or stable mRS compared to hospitalization and 5 had a slight worsening (14.7%).Conclusion: Brainstem cavernoma is a rare entity with aggressive features due to the involved eloquence despite of the benign histology itself. Microsurgical resection should be tailored for each patient to the peculiar characteristics of the harbored lesion. Advanced planning techniques reduced morbidity; patients should be centralized in wide caseload hospitals with high specialization in neurovascular pathologies and should receive an appropriate counseling about natural history and risks of interventional treatment.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1733-1740"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142838467","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}

引用次数: 0

Felbamate as a therapeutic alternative to drug-resistant genetic generalized epilepsy: a systematic review and meta-analysis. 非胺酸盐作为耐药遗传性全面性癫痫的治疗选择：一项系统回顾和荟萃分析。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-01 Epub Date: 2024-12-26 DOI: 10.1007/s10072-024-07942-6

Yitao Ma, Matthew Kaminski, Robert Crutcher

{"title":"Felbamate as a therapeutic alternative to drug-resistant genetic generalized epilepsy: a systematic review and meta-analysis.","authors":"Yitao Ma, Matthew Kaminski, Robert Crutcher","doi":"10.1007/s10072-024-07942-6","DOIUrl":"10.1007/s10072-024-07942-6","url":null,"abstract":"Introduction: The effect of felbamate (FBM) on genetic generalized epilepsy (GGE) remains largely unknown. The utilization of FBM has been limited due to its potential risk of aplastic anemia and hepatic failure. This study aimed to comprehensively evaluate the efficacy and safety of FBM in the treatment of drug-resistant GGE.Methods: We searched the databases, including PubMed, Web of Science, Embase, and Google Scholar, to identify cases of GGE treated with FBM. Data on outcomes and adverse events were extracted from these studies.Results: The literature search yielded 9 studies with 166 cases in which FBM was used as an adjunct therapy to treat drug-resistant GGE. The pooled responder rate to FBM was 65% (95% confidence interval CI, 51-80). 17% (95% CI, 3-31) achieved seizure freedom. 81% (95% CI, 60-100) of patients with Epilepsy with myoclonic atonic seizures were responders. Adverse events were reported in 40% (95% CI, 26-54) of patients.Conclusions: Patients with drug-resistant GGE achieved good responses to FBM. The high heterogeneity between studies calls for further research with large-scale, randomized controlled trials. Given the rare reports of idiosyncratic reactions of aplastic anemia and hepatic failure, intense laboratory monitoring and a slower titration schedule are recommended.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1565-1572"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896467","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}

引用次数: 0

Genetic mutations in kinases: a comprehensive review on marketed inhibitors and unexplored targets in Parkinson's disease. 激酶的基因突变：对帕金森病已上市抑制剂和未开发靶点的全面回顾。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-01 Epub Date: 2025-01-06 DOI: 10.1007/s10072-024-07970-2

Amir Raza, Jeevika Raina, Sanjeev Kumar Sahu, Pankaj Wadhwa

{"title":"Genetic mutations in kinases: a comprehensive review on marketed inhibitors and unexplored targets in Parkinson's disease.","authors":"Amir Raza, Jeevika Raina, Sanjeev Kumar Sahu, Pankaj Wadhwa","doi":"10.1007/s10072-024-07970-2","DOIUrl":"10.1007/s10072-024-07970-2","url":null,"abstract":"This comprehensive review navigates the landscape of genetic mutations in kinases, offering a thorough examination of both marketed inhibitors and unexplored targets in the context of Parkinson's Disease (PD). Although existing treatments for PD primarily center on symptom management, progress in comprehending the molecular foundations of the disease has opened avenues for targeted therapeutic approaches. This review encompasses an in-depth analysis of four key kinases-PINK1, LRRK2, GAK, and PRKRA-revealing that LRRK2 has garnered the most attention with a plethora of marketed inhibitors. However, the study underscores notable gaps in the exploration of inhibitors for PINK1, GAK, and a complete absence for PRKRA. The observed scarcity of inhibitors for these kinases emphasizes a significant area of untapped potential in PD therapeutics. By drawing attention to these unexplored targets, the review highlights the urgent need for focused research and drug development efforts to diversify the therapeutic landscape, potentially providing novel interventions for halting or slowing the progression of PD.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1509-1524"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932548","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}

引用次数: 0

Novel compound heterozygous variants in KIF1A non-motor domain of recessive hereditary spastic paraplegia type 30: a case with 65-year disease history. 隐性遗传性痉挛性截瘫30型非运动结构域KIF1A复合杂合变异：65年病史1例

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-01 Epub Date: 2024-12-04 DOI: 10.1007/s10072-024-07917-7

Xiaosheng Zheng, Wei Luo

引用次数: 0

The pleomorphic phenotype of neurosarcoidosis. 神经肉瘤病的多形性表型。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-01 Epub Date: 2024-12-20 DOI: 10.1007/s10072-024-07914-w

Oscar E Garat, Carolina I Perez Arana, Carlos E Perandones, Jorge Correale, Mariano Marrodan

引用次数: 0

Fractional amplitude of low-frequency fluctuations in right dorsal cingulum bundle associated with depression symptoms in AD patients: effects of donepezil intervention. 与AD患者抑郁症状相关的右侧扣带背束低频波动的分数幅值：多奈哌齐干预的效果

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-01 Epub Date: 2024-12-09 DOI: 10.1007/s10072-024-07922-w

Zhongwei Guo, Fuquan Wei, Hongtao Hou, Xiaozheng Liu

{"title":"Fractional amplitude of low-frequency fluctuations in right dorsal cingulum bundle associated with depression symptoms in AD patients: effects of donepezil intervention.","authors":"Zhongwei Guo, Fuquan Wei, Hongtao Hou, Xiaozheng Liu","doi":"10.1007/s10072-024-07922-w","DOIUrl":"10.1007/s10072-024-07922-w","url":null,"abstract":"Objectives: Our aim was to investigate the mechanisms of spontaneous brain activity of white matter functional signals in Alzheimer's disease (AD) patients after donepezil intervention.Methods: We used resting-state functional magnetic resonance imaging and the fractional amplitude of low-frequency fluctuations (fALFF) approach to investigate changes in spontaneous brain activity of white matter functional signals in AD patients before and after donepezil intervention. A total of 32 subjects participated in the study, including 16 healthy subjects (HCs) and 16 AD patients. The 16 AD patients underwent brain imaging and neuropsychological assessment before and after donepezil. ANOVA and post hoc t-test analysis were used to compare the differences in fALFF between the three groups. Pearson correlations were used to investigate the relationships between abnormal fALFF values and clinical variables in AD patients before and after intervention (P < 0.05).Results: Compared to HCs, AD patients before donepezil intervention had an abnormal fALFF in superior longitudinal fasciculus 2; AD patients after donepezil intervention had an abnormal fALFF in right superior longitudinal fasciculus 1,2 and right dorsal cingulum, Compared with baseline, AD patients after donepezil intervention had an abnormal fALFF in the right dorsal cingulum. Compared with the baseline, AD patients after donepezil intervention had significantly decreased depression scores (P < 0.0003).Conclusions: Our study showed that spontaneous activity of functional signalling in the cholinergic pathway was altered in AD patients after donepezil intervention and that this change was associated with depressive symptoms in AD patients.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1629-1635"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801843","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}

引用次数: 0