Neurological Sciences最新文献

{"title":"Beyond the beats: a systematic review of the underlying inflammatory pathways between atrial fibrillation and cognitive decline.","authors":"Ana Mónica Machado, Ana Sofia Ferraz, M Graça Pereira, Fernanda Leite","doi":"10.1007/s10072-025-08040-x","DOIUrl":"https://doi.org/10.1007/s10072-025-08040-x","url":null,"abstract":"<p><p>Atrial fibrillation (AF) and cognitive decline represent significant health challenges with increasing prevalence and significant socioeconomic implications. Emerging evidence suggests a potential link between AF and cognitive decline, including dementia and Alzheimer's disease, although the underlying mechanisms remain incompletely understood. Inflammation has emerged as a key mediator in cardiovascular and neurological diseases, encouraging an investigation into its role in the atrial fibrillation-cognition association. A systematic search of PubMed, Web of Science, and PsycInfo was conducted to identify relevant studies investigating possible inflammatory mechanisms bridging AF and cognitive decline. Studies were assessed for quality and relevance, and data were synthesized using a narrative approach. Five papers were included, with only two longitudinal studies. Inflammatory biomarkers emerged as significant factors associated with both AF and cognitive decline. Three studies revealed a correlation between high-sensitivity CRP (HS-CRP) levels and cognitive decline in patients with AF, AF patients with cerebral infarction, and elderly individuals with AF. However, conflicting results were observed, as one study did not identify any associations between cognitive decline and HS-CRP levels. The scientific literature on this topic is scarce, and the results of existing studies often lack consistency in their findings, highlighting the need for further research to better understand and prevent this significant health burden in patients with AF. So, the results of this study are expected to inform future research directions and cognitive decline risk stratification, guiding the development of targeted interventions aimed at preserving cognitive function and improving outcomes in patients with AF.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458616","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":"Sez6l2-associated cerebellar ataxia: case report and review of the literature.","authors":"Cheng Chang, Xiaxin Yang, Guangrun Xu, Yaping Yan, Shengjun Wang","doi":"10.1007/s10072-025-08047-4","DOIUrl":"https://doi.org/10.1007/s10072-025-08047-4","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458557","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 cord involvement in primary central nervous system vasculitis. A systematic review of clinical, neuroradiological and pathological findings.","authors":"Marialuisa Zedde, Rosario Pascarella","doi":"10.1007/s10072-025-08007-y","DOIUrl":"https://doi.org/10.1007/s10072-025-08007-y","url":null,"abstract":"<p><strong>Introduction: </strong>Primary Angiitis of Central Nervous System (PACNS) is a rare disease featured by transmural inflammation in vessels pertaining to brain, leptomeninges and spinal cord. It is a rare disease and the involvement of the spinal cord represents a rarer and not yet completely investigated subtype.</p><p><strong>Methods: </strong>We performed a systematic search of the available literature on Pubmed and Embase, adding backward and forward citations, in order to retrieve the reported cases of PACNS i9nvolvimeng the spinal cord without time limitations. The main aim is to retrieve information about clinical and demographic features, pathological and neuroradiological findings on brain and spinal cord, and, finally, treatment and outcome.  RESULTS: The search provided 33 papers (mainly individual case reports) and 38 patients, with a large age frame (from 12 to 70 years of age), mainly adults. Among these ones 36/38 received a pathological diagnosis and granulomatous pattern was the main reported one. The description of spinal cord involvement in MRI is variable form extensive tumefactive lesions to spinal roots prominent involvement. The mortality is high (29% at the end of the individual follow-up).   DISCUSSION: As in non-spinal involvement, the main limitation of the retrieved cases is the inhomogeneity of the diagnostic and therapeutic pathway with underusing and underreporting of neuroradiolgoical techniques relevant for the diagnosis according with the available diagnostic criteria. Spinal cord involvement confirms its rarity, but it has been associated to a high disability and mortality and the diagnosis of PACNS has therapeutic consequences.  CONCLUSIONS: Spinal cord involvement is present in a minority of PACNS cases with a variety of neuroradiological and pathological findings. The standardization of the diagnostic pathway could help to improve the quality of information in prospective studies.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468741","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 patient with pontine autosomal dominant microangiopathy and leukoencephalopathy caused by a de novo 3' untranslated region mutation of COL4A1 gene: case report and literature review.","authors":"Fei Xie, Shuang Li, Xingyue Hu, Wenyu Li","doi":"10.1007/s10072-025-08025-w","DOIUrl":"10.1007/s10072-025-08025-w","url":null,"abstract":"<p><strong>Background: </strong>Recently, mutations affecting a microRNA-29 (miR-29)-binding site in the 3'-untranslated region of COL4A1 have been identified as a cause of pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL) and hereditary multi-infarct dementia (hMID) of the Swedish type. PADMAL and Swedish hMID are extremely rare disorders with no de novo mutations previously reported.</p><p><strong>Methods: </strong>A patient with cerebral small vessel disease underwent comprehensive neurological examinations, neuroimaging analysis, and whole-exome sequencing. Co-segregation analysis was performed on his family, and haplotype analysis was conducted to confirm the biological relationship.</p><p><strong>Results: </strong>The patient experienced recurrent ischemic strokes since age 32. Brain MRI showed multiple acute and chronic lacunar infarcts in the pons and bilateral cerebral hemispheres. A previously reported pathogenic mutation of PADMAL, COL4A1 c.*32G > T, was identified and found to be absent in both parents. Identity testing confirmed the biological parentage, classifying the c.*32G > T variant as a de novo mutation.</p><p><strong>Conclusions: </strong>The discovery of PADMAL in a patient with a de novo mutation indicates that COL4A1 gene miR-29-binding site variant sequencing should be considered in patients exhibiting typical clinical and MRI features, even if there is no family history.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458612","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":"Treatment Adherence in a Large Cohort of Turkish Multiple Sclerosis Population.","authors":"Meral Seferoğlu, Bilge Piri Çınar, Ülgen Yalaz Tekan, Fatma Avşar, Pınar Yiğit, Ali Özhan Sıvacı, Serkan Demir, Melih Tütüncü, Haluk Gümüş, Cihat Uzunköprü, Yeşim Beckmann, Gülşen Akman Demir, Ayşe Sağduyu Kocaman, Aksel Siva","doi":"10.1007/s10072-025-08055-4","DOIUrl":"https://doi.org/10.1007/s10072-025-08055-4","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to evaluate adherence to disease-modifying therapies (DMTs) among patients with multiple sclerosis (MS) and to identify factors influencing compliance, based on perceptions and preferences of both patients and neurologists.</p><p><strong>Methods: </strong>Questionnaires were designed by a team of experts, including MS specialists, psychologists, and statisticians, to capture data on treatment adherence and related factors. A total of 1021 MS patients and their neurologists participated. Patients' adherence to oral, injectable, and infusion DMTs was assessed alongside demographic and disease-related characteristics.</p><p><strong>Results: </strong>The study included 1021 MS patients with a mean age of 35.69 ± 9.07 years. Infusion therapies demonstrated the highest adherence rates (96.6%). Among all patients, 78.9% maintained treatment without interruption, while 56.7% of those who interrupted therapy informed their physicians. Patients with a disease duration of less than one year or more than 10 years exhibited lower rates of treatment interruption compared to those with a disease duration of 1-10 years (p = 0.032). In the injectable DMT group, significant differences in adherence were noted (p < 0.001). The lowest interruption rate (13.5%) was seen in patients with a disease duration of less than one year, whereas interruption rates were markedly higher (83%) in those with a duration exceeding 16 years.</p><p><strong>Conclusion: </strong>Improving adherence requires a patient-centered, collaborative approach emphasizing shared decision-making between physicians and patients. Addressing factors that contribute to non-compliance is essential for optimizing treatment outcomes and enhancing long-term disease management in MS.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458706","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 and behavioral follow-up of patients with amyotrophic lateral sclerosis type 8.","authors":"Cássia de Alcântara, Marcelo Maroco Cruzeiro, Marcondes Cavalcante França, Mariana Asmar Alencar, Caroline Martins de Araújo, Sarah Teixeira Camargos, Leonardo Cruz de Souza","doi":"10.1007/s10072-025-08036-7","DOIUrl":"https://doi.org/10.1007/s10072-025-08036-7","url":null,"abstract":"<p><strong>Background and objective: </strong>Amyotrophic Lateral Sclerosis type 8 (ALS8) is a familial motor neuron disease caused by the VAPB p.P56S mutation. There is a lack of longitudinal studies to elucidate the cognitive and behavioral progression of this disease. We aimed to investigate the progression of cognitive performance and behavioral symptoms of ALS8 patients over time.</p><p><strong>Methods: </strong>The cohort was composed of 23 ALS8 patients (12 men). They underwent neuropsychological assessments in two periods of time, ranging from 24 to 48 months (mean follow-up: 33 ± 10).</p><p><strong>Results: </strong>There was mild motor and functional decline during the follow-up. There were no significant differences between the first and the second evaluation on tests of verbal fluency, executive functions, episodic memory, and facial emotion recognition. There was a decline in the Language subdomain from the Addenbrooke's Cognitive Examination-revised. Behavioural measures indicated decreasing stereotypic behaviours. Anxiety and depression symptoms remained stable. No patient developed dementia.</p><p><strong>Conclusion: </strong>Cognitive decline parallels motor degeneration in ALS8, with a slow pattern of progression.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449281","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":"miRNAs in neurodegenerative diseases: from target screening to precision therapy.","authors":"Dongyi Liao, Yujie Zhang, Shuangyang Li, Hongmei Tang, Xue Bai","doi":"10.1007/s10072-025-08051-8","DOIUrl":"https://doi.org/10.1007/s10072-025-08051-8","url":null,"abstract":"<p><p>miRNAs are critical for different disease development processes, including cell growth, signaling, apoptosis, cancer and neurodegenerative diseases. It has been shown that altered miRNA levels are associated with reactive oxygen species (ROS) formation and mitochondrial dysfunction. While mitochondrial dysfunction and ROS formation occur in many neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, and multiple sclerosis, amyotrophic lateral sclerosis, miRNAs have the potential to be diagnostic biomarkers and therapeutic targets with a high degree of specificity, which is highly relevant in neurodegenerative pathologies.This paper gives a general summary of the current expression of miRNAs in neurodegenerative diseases, including miRNAs up-regulated or down-regulated in a variety of diseases, as well as the associated factors of influence. miRNAs are more like a double-edged sword, their multi-targeted role has brought light to many diseases for which there are currently no clear therapeutic options, but at the same time, their low specificity and possible side effects on the whole body should not be ignored, therefore However, at the same time, its low specificity and possible side effects on the whole body should not be ignored, therefore, more attention should be paid to the development of miRNA therapy in terms of its high efficiency, the use of carriers, and the clarification of side effects.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449554","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":"Dysphagia in Parkinson´s disease. A 5-year follow-up study.","authors":"Diego Santos-García, Teresa de Deus Fonticoba, Silvia Jesús, Marina Cosgaya, Juan García Caldentey, Nuria Caballol, Ines Legarda, Jorge Hernández Vara, Iria Cabo, Lydia López Manzanares, Isabel González Aramburu, Maria A Ávila Rivera, Víctor Gómez Mayordomo, Víctor Nogueira, Julio Dotor García-Soto, Carmen Borrué, Berta Solano Vila, María Álvarez Sauco, Lydia Vela, Sonia Escalante, Esther Cubo, Zebenzui Mendoza, Isabel Pareés, Pilar Sánchez Alonso, Maria G Alonso Losada, Nuria López Ariztegui, Itziar Gastón, Jaime Kulisevsky, Manuel Seijo, Caridad Valero, Ruben Alonso Redondo, Carlos Ordás, Manuel Menéndez-González, Darrian McAfee, Pablo Martinez-Martin, Pablo Mir","doi":"10.1007/s10072-025-08027-8","DOIUrl":"https://doi.org/10.1007/s10072-025-08027-8","url":null,"abstract":"<p><strong>Background and objective: </strong>Dysphagia at time of diagnosis suggests atypical parkinsonism instead Parkinson´s disease (PD). Our aim was to analyze the frequency of dysphagia in patients with early PD comparing with a control group and to identify related factors.</p><p><strong>Patients and methods: </strong>Patients with early PD (≤ 2 years from symptoms onset) who were recruited from January/2016 to November/2017 (baseline visit; V0) and evaluated annually for 5 years from the Spanish cohort COPPADIS were included in this prospective study. Controls were assessed at baseline and at 2-, 4-, and 5-year follow-up. Dysphagia was defined as a score ≥ 1 in the item 20 of the Non-Motor Symptoms Scale (NMSS).</p><p><strong>Results: </strong>Dysphagia was more frequent at baseline in PD patients (19.6% [36/184]; 62.3 ± 8.3 years old; 56.8% males) than in controls (5.3% [11/206]; 60.9 ± 8.3 years old; 50% males) (p < 0.0001) and in all visits as well (p < 0.0001). A worse quality of sleep (Parkinson´s Disease Sleep Scale; OR = 0.974; p = 0.005), a greater impulse-control behavior (ICB) (Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale; OR = 1.066; p = 0.014), and non-motor symptoms burden (Non-Motor Symptoms Scale; OR = 1.016; p = 0.021) were independent factors associated with dysphagia at baseline. In those subjects with dysphagia, no differences were observed between patients and controls in the mean NMSS-item 20 overtime, and it didn´t change throughout the follow-up.</p><p><strong>Conclusion: </strong>Dysphagia was frequent in early PD patients compared to controls. However, it was minor and did not progress over time. Sleep, ICB, and non-motor symptoms burden were related to dysphagia.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449282","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":"Classification of Parkinson's disease with and without dopaminergic deficiency based on non-motor symptoms and structural neuroimaging.","authors":"Lucas Ronat, Pierre Rainville, Oury Monchi, Alexandru Hanganu","doi":"10.1007/s10072-025-08045-6","DOIUrl":"https://doi.org/10.1007/s10072-025-08045-6","url":null,"abstract":"<p><p>The presence of non-motor symptoms (NMS) such as olfactive deficit or neuropsychiatric symptoms has been associated with the diagnosis of Parkinson's Disease (PD). NMS are also associated with different brain structural features underlying distinctive processes in PD. NMS has been poorly studied in patients with a PD-like clinical profile, showing Scans Without Evidence of Dopaminergic Deficit (SWEDD). This study proposes to compare classification models differentiating PD, SWEDD and Healthy Controls (HC) based on NMS and neurostructural factors. 683 participants (382 PD diagnosed in the last 2 years, 48 with SWEDD, 170 HC) from the PPMI dataset were compared based on available assessments. Each participant underwent an olfactive, neuropsychiatric and sleep assessment, and a 3T MRI. Brain volumes were extracted and standardized from each MRI. Classifications were based on logistic regressions using 5-fold cross-validation models combining different NMS and MRI data and determining their involvement in differentiation between patient subgroups (PD vs. SWEDD) or between patients and HC. NMS were significant factors in PD vs. SWEDD, PD vs. HC and SWEDD vs. HC classifiers, when considered alone or in combination with MRI data. No classification models were significantly different from chance based-on MRI, nor more accurate combining NMS and MRI when compared with models based on NMS only. These results highlight the importance of NMS in differentiating between PD and SWEDD, PD and HC, SWEDD and HC. However, classical imaging data such as cortical and subcortical volumetry seems insufficient to improve these classifications. Other imaging features such as connectivity could also be studied.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449262","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":"New imaging features of MYCN-amplified spinal cord ependymoma.","authors":"Diogo Goulart Corrêa, José Marcus Rotta, Roberto Abramoff, Livia Barreira Cavalcante, Tomás de Andrade Lourenção Freddi","doi":"10.1007/s10072-025-08054-5","DOIUrl":"https://doi.org/10.1007/s10072-025-08054-5","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441553","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}