Neurologia最新文献

{"title":"Adult-onset arginase-1 deficiency mimicking hereditary spastic paraplegia","authors":"F. Castellanos-Pinedo, J.M. Morán-López, S. Moreno-Pulido, B. Rodríguez-Fúnez, I. Royo Boronat","doi":"10.1016/j.nrleng.2026.501943","DOIUrl":"10.1016/j.nrleng.2026.501943","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"41 6","pages":"Article 501943"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147583256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Delphi study on epidemiology, clinical management, disease burden, and treatment of paediatric patients with Duchenne muscular dystrophy in Spain","authors":"I. Pitarch-Castellano,&nbsp;C.I. Ortez-González,&nbsp;A. Nascimento-Osorio,&nbsp;P. Aguilera López,&nbsp;M.O. Blanco Barca,&nbsp;A. Camacho-Salas,&nbsp;O. García-Campos,&nbsp;M.C. García-Jiménez,&nbsp;M. García-Romero,&nbsp;D. Gómez-Andrés,&nbsp;M.A. Grimalt-Calatayud,&nbsp;A. Hernández-Fabián,&nbsp;I. Málaga-Diéguez,&nbsp;M. Madruga-Garrido,&nbsp;I. Marti-Carrera,&nbsp;L. Martín-Viota,&nbsp;M.J. Martínez-García,&nbsp;J.M. Ramos-Fernández,&nbsp;R. Sánchez-Carpintero Abad,&nbsp;S. Vázquez-Martín,&nbsp;A. Giró-Perafita","doi":"10.1016/j.nrleng.2026.502007","DOIUrl":"10.1016/j.nrleng.2026.502007","url":null,"abstract":"<div><h3>Introduction</h3><div>Duchenne muscular dystrophy (DMD) is a rare hereditary disease caused by mutations in the <em>DMD</em> gene, leading to progressive muscle weakness and degeneration.</div></div><div><h3>Methods</h3><div>Twenty paediatric neurologists with expertise in the management of DMD at Spanish centres participated in this 2-round Delphi study. The first survey was based on a literature review, and answers were analysed by descriptive statistics. The prevalence and incidence of DMD were estimated using the number of patients reported by experts and the population covered by hospitals, and later extrapolated to the male population in Spain.</div></div><div><h3>Results</h3><div>An estimated 618 paediatric patients have been diagnosed with DMD in Spain. The age of diagnosis is around 3 (IQR 3-3.9) years and the age of initiation of glucocorticoid treatment is 5 (IQR 4-5) years. Loss of ambulation is estimated at 13 (IQR 12-13.5) years. Deflazacort is the most widely used treatment in Spain. The main adverse effects are growth delay, weight gain, bone metabolism problems, and Cushingoid appearance.</div></div><div><h3>Conclusion</h3><div>The study reports updated data on the epidemiology and clinical management of DMD in Spain. It also highlights the importance of early diagnosis, multidisciplinary management and the need for a new therapy that improves the safety profile of traditional glucocorticoids to provide an improved quality of life for patients with DMD.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"41 6","pages":"Article 502007"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147583295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Consensus statement and clinical recommendations on the practical management of lipid-lowering therapy in stroke and transient ischaemic attack","authors":"M. Freijo-Guerrero,&nbsp;P. Cardona,&nbsp;M. Castellanos,&nbsp;R. de Torres-Chacón,&nbsp;A. Gil-Núñez,&nbsp;M. Guillán,&nbsp;P. Martínez-Sánchez,&nbsp;E.J. Palacio-Portilla,&nbsp;F. Purroy,&nbsp;T. Segura,&nbsp;J. Masjuan Vallejo","doi":"10.1016/j.nrleng.2026.502076","DOIUrl":"10.1016/j.nrleng.2026.502076","url":null,"abstract":"<div><h3>Background</h3><div>Stroke represents a major public health challenge in Spain, with approximately 120 000 cases per year and a significant impact on mortality, disability, and dependency. Elevated low-density lipoprotein cholesterol (LDL-C) is a key modifiable causal factor in preventing vascular recurrences. This consensus statement aims to provide a comprehensive framework for the practical management of lipid-lowering therapy in patients with stroke or transient ischaemic attack (TIA).</div></div><div><h3>Methods</h3><div>A panel of experts in neurology, specialised in the management of patients with stroke/TIA, participated in 3 sessions to review the latest evidence. Subsequently, they reached consensus on practical recommendations for the management of lipid-lowering therapy based on data from clinical trials, meta-analyses, and current clinical guidelines.</div></div><div><h3>Conclusions</h3><div>Achieving the therapeutic targets for LDL-C is essential to prevent recurrence in patients with stroke/TIA. To ensure comprehensive management of LDL-C in patients with stroke/TIA, the application of intensive therapeutic strategies, individualised approaches, and robust continuity of care are recommended to optimise secondary prevention. Treatment planning at discharge, neurologist-led risk factor control, and coordinated continuity of care between hospital and primary care settings are essential factors determining long-term outcomes. Inclisiran has emerged as a new key therapy to improve lipid control and treatment adherence in these patients, in alignment with national and international recommendations for achieving therapeutic targets and reducing the burden of vascular disease. Optimal implementation of this therapeutic approach may substantially contribute to improving the prognosis of patients with stroke/TIA.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"41 6","pages":"Article 502076"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148007740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute extensive leukoencephalopathy secondary to transdermal fentanyl and oral tapentadol intoxication: a case report","authors":"M. Massons,&nbsp;J.L. Núñez-Pizarro,&nbsp;J. Zapatero,&nbsp;N. Bargalló,&nbsp;C. Gaig,&nbsp;E. Muñoz","doi":"10.1016/j.nrleng.2026.501945","DOIUrl":"10.1016/j.nrleng.2026.501945","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"41 6","pages":"Article 501945"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147577269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in plasma glutamate in hemodialysis-related-headache patients: A pilot study","authors":"M. Sobrado,&nbsp;P. Alcantara-Miranda,&nbsp;A.M. Ruiz-Tornero,&nbsp;I. Fernández-Lázaro,&nbsp;M. Giorgi,&nbsp;P. Sobrino,&nbsp;P. Zubiaur,&nbsp;D. Koller,&nbsp;A. Wojnicz,&nbsp;G. Zapata-Wainberg,&nbsp;F. Abad-Santos,&nbsp;J. Vivancos,&nbsp;B. Guillermina,&nbsp;A. Gago-Veiga","doi":"10.1016/j.nrleng.2026.502015","DOIUrl":"10.1016/j.nrleng.2026.502015","url":null,"abstract":"<div><h3>Objective</h3><div>This study aims to determine the profile of glutamate in hemodialysis-related headache (HDH) patients compared to those without HDH.</div></div><div><h3>Background</h3><div>HDH is a frequent complication in patients undergoing hemodialysis, although little is known about its pathophysiology.</div></div><div><h3>Methods</h3><div>Pilot observational and prospective study. Blood samples of patients consecutively recruited with end-stage renal disease undergoing hemodialysis were obtained at onset, at the first 30<!--> <!-->min, and at 4<!--> <!-->h of the hemodialysis session. Glutamate and ALT, AST plasma levels were analyzed at these three stages. Patients were classified into HDH and non-HDH groups. Hospital charts were revised for clinical history and other laboratory results.</div></div><div><h3>Results</h3><div>Thirty patients (60% males, mean age 70.2<!--> <!-->±<!--> <!-->10.5 years) attending the Hemodialysis Unit were included. Nine (30%) experienced HDH. The whole sample showed a significant reduction of glutamate and an increase of ALT and AST along hemodialysis. Specifically, the magnitude of the reduction of plasma glutamate levels concentration in HDH group was stable during the 30<!--> <!-->min and presented a significant posterior reduction, opposite to the evolution in non-HDH patients.</div></div><div><h3>Conclusions</h3><div>HDH was associated with a higher variation in plasma glutamate levels with a particular hemodialysis clearance profile, useful to detect patients with a higher susceptibility of developing HDH and receive preventive measures. In conclusion, HDH-group had a later drop in glutamate that could be related to HDH development. Other modalities with more prolonged solute clearance could be considered. We hope the findings of this study will help promote more research to interpret the role of glutamate variations in patients with hemodialysis related headaches.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"41 6","pages":"Article 502015"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148427763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mild functional impairment: Definition and diagnostic criteria.","authors":"M S Manzano Palomo, C Terrón Cuadrado, M J Gil Moreno, C Fernández García, C Alonso Bouzón, A Besga Basterra, A Brugulat-Serrat, M Teresa Carreras, M Castellanos Rodrigo, E Delgado Parada, G García Ribas, N Gramunt Fombuena, A Millán Pacheco, J Pagonabarraga Mora, J Porta Etessam, S P Ramírez Díaz, M Isabel Ramos García, I Rodríguez-Sánchez, M Salas Carrillo, G Sánchez-Benavides, P Simal, A Vieira Campos","doi":"10.1016/j.nrleng.2026.502093","DOIUrl":"10.1016/j.nrleng.2026.502093","url":null,"abstract":"<p><strong>Introduction: </strong>The onset of mild functional impairment (MFI) is associated with greater progression to cognitive decline, in addition to influencing the course of other neurological, psychiatric, and geriatric diseases. To date, there is no clear definition of MFI that may allow analysis of its impact.</p><p><strong>Aim: </strong>To generate, through a multidisciplinary team and after a review of the scientific evidence, diagnostic criteria that can define the MFI construct.</p><p><strong>Development: </strong>The criteria selected to define the construct which encompasses physical, cognitive, and behavioural aspects, and the process followed to select them, are described. An initial construct proposal was developed from the information extracted in the literature search, contextualised with clinical experience. For discussion, a questionnaire was developed that included, in addition to the proposed construct, 9 points on its content. The Delphi methodology was used to discuss the following points: the temporal occurrence of the proposed definition, age of application, persistence, type of activity affected (advanced, instrumental, or basic activities of daily living), and, finally, the need for minimal aids to maintain autonomy. Finally, the next steps in the research of the concept and in the measurement of MFI, as well as future prospects, are proposed.</p><p><strong>Conclusions: </strong>The defined construct is aimed at the early assessment of mild functional changes that could be related to neurodegenerative diseases, aging, and/or a higher incidence of other pathologies. This is intended to be the basis for the design of tools that allow for a more accurate assessment of the functionality of adult patients, thus complementing other clinical diagnoses.</p>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"502093"},"PeriodicalIF":0.0,"publicationDate":"2026-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148045345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can emergency systems help improve Teleictus outcomes?","authors":"X Jiménez Fàbrega, M M Escudero Campillo","doi":"10.1016/j.nrleng.2026.502088","DOIUrl":"10.1016/j.nrleng.2026.502088","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"502088"},"PeriodicalIF":0.0,"publicationDate":"2026-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148038663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Progress and challenges towards gender equality in the Spanish Society of Neurology: a study with a gender perspective.","authors":"V García Vira, J Muñoz Sánchez, L Lorente Gómez, M G González Caballero, M Álvarez Saúco","doi":"10.1016/j.nrleng.2026.502087","DOIUrl":"10.1016/j.nrleng.2026.502087","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to analyse gender representation in the leadership structure and positions of responsibility of the Spanish Society of Neurology (SEN), highlighting the progress and challenges towards more equitable participation.</p><p><strong>Materials and methods: </strong>We conducted a descriptive study of the distribution by sex at the level of president, executive board, plenary lectures, study groups, and membership of the SEN and its Annual Meeting, from its founding in 1949 to 2024, according to the information available in the Society's databases and website.</p><p><strong>Results: </strong>A progressive increase in the proportion of women members of the SEN (2.8%, 12%, 32.5%, and 51.3% in 1952, 1982, 2002, and 2022, respectively) is observed, reflected in an equitable distribution of board members in 2024. This marks a milestone compared to previous boards, where men predominated. Only one woman has served as president of the SEN (96.6% men) since its inception. Fifty percent of the current coordinators of study groups are women. However, women still have low representation in plenary lectures and in higher-level positions.</p><p><strong>Conclusions: </strong>Gender representation shows a sustained trend toward equity, with notable recent progress in women's participation in leadership positions. Scientific societies are urged to improve the collection of gender data to continue analysing the causes of inequality and improve efforts to advance equitable representation.</p>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"502087"},"PeriodicalIF":0.0,"publicationDate":"2026-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148038678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bilateral carotid arteriopathy associated with Graves Disease: a case report.","authors":"M Massons, A Rodríguez-Vázquez, A Mesa, S Amaro","doi":"10.1016/j.nrleng.2026.502089","DOIUrl":"10.1016/j.nrleng.2026.502089","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":"502089"},"PeriodicalIF":0.0,"publicationDate":"2026-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148038392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurological primary care: assessment of teleconsultation as the only access gateway to neurological care from primary care","authors":"S. Pérez-Sánchez ,&nbsp;M.Á. Quesada García ,&nbsp;F. Sánchez Fernández ,&nbsp;P.L. Guardado Santervás ,&nbsp;J. Dotor ,&nbsp;E. Martínez Fernández ,&nbsp;M. Villagran García ,&nbsp;M. Ben Yelun ,&nbsp;J.D. Guerra Hiraldo ,&nbsp;M.Á. Acevedo ,&nbsp;J.M. Herrerías ,&nbsp;J. Moreno Conde ,&nbsp;Á. Rodríguez ,&nbsp;I. Muñoz Martínez ,&nbsp;J. Montaner","doi":"10.1016/j.nrleng.2026.501919","DOIUrl":"10.1016/j.nrleng.2026.501919","url":null,"abstract":"<div><h3>Introduction</h3><div>The demand for neurological care from primary care (PC) has grown in recent years. Teleconsultation is being consolidated as another tool in the management of this demand. Therefore, we analyse the teleconsultation activity carried out in our region after its implementation as the only gateway to neurological care.</div></div><div><h3>Method</h3><div>Teleconsultation from PC was implemented in the 2 healthcare districts of our region in 2020, with a mixed referral system (in-person and teleconsultation). In March 2023, it was implemented as the only gateway to the neurology department in one of the healthcare districts (the rural area, Sevilla Norte), with the mixed system remaining in place for the other. Data were collected on its use during the 6 months after implementation (total number, average delay, case-resolution capacity [discharge, follow-up, consultation]). A comparison was made with the same period of the previous year.</div></div><div><h3>Results</h3><div>A total of 7377 teleconsultations have been registered since the implementation of the system, with a year-on-year increase (1247 in 2020, 2370 in 2021, 2542 in 2022, and 3008 until August 2023). This is reflected in the increased access to the neurology department from primary care between both periods. The mean waiting time for in-person referral decreased (41.92 [15.96] days in 2022 vs 12.66 [11.34] days in 2023; <em>P</em> &lt; .001) and the number of appointments scheduled outside the legally established timeframe (&gt; 60 days) fell by 96.7% (1936 patients [44.2%] in 2022 and 64 patients [1.2%] in 2023). Teleconsultation also improved access, with a 68.09% decrease in the mean delay (35 [27.17] hours in 2022 vs 11.17 [4.12] hours in 2023; <em>P</em> = .060). In terms of teleconsultation case-resolution capacity, the number of discharges from teleconsultation remained above 50% (59.45 [8.93%] in 2022 and 54.07 [6.02%] in 2023, <em>P</em> = .249).</div></div><div><h3>Conclusions</h3><div>TC as a single gateway is useful and efficient in managing demand from PC. It improves access to the population, with patients being attended within hours of consultation, and allows more than half of consultations to be resolved, avoiding unnecessary consultations and travel to the hospital.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"41 3","pages":"Article 501919"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147328859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}