Neurological research and practice最新文献

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Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study. 肌萎缩性侧索硬化症(ALS)症状前和早期疾病特征的识别:ALS前期研究的方案。
IF 3.2
Neurological research and practice Pub Date : 2025-08-19 DOI: 10.1186/s42466-025-00417-9
Laura Tzeplaeff, Ana Galhoz, Clara Meijs, Lucas Caldi Gomes, Andrej Kovac, Amrei Menzel, Hatice Değirmenci, Abir Alaamel, Hüseyin Can Kaya, Ali Günalp Çelik, Sine Dinçer, Meltem Korucuk, Sibel Berker Karaüzüm, Elif Bayraktar, Vildan Çiftçi, Uğur Bilge, Filiz Koç, Antonia F Demleitner, Anne Buchberger, Ricarda von Heynitz, Vincent Gmeiner, Christina Knellwolf, Mohammed Mouzouri, Joanne Wuu, A Nazli Başak, Peter Munch Andersen, Florian Kohlmayer, Nicholas J Ashton, Wojciech Kuban, Christof Lenz, Mary-Louise Rogers, Norbert Zilka, Philippe Corcia, Yossef Lerner, Markus Weber, Monika Turcanova Koprusakova, Hilmi Uysal, Michael Benatar, Michael P Menden, Paul Lingor
{"title":"Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study.","authors":"Laura Tzeplaeff, Ana Galhoz, Clara Meijs, Lucas Caldi Gomes, Andrej Kovac, Amrei Menzel, Hatice Değirmenci, Abir Alaamel, Hüseyin Can Kaya, Ali Günalp Çelik, Sine Dinçer, Meltem Korucuk, Sibel Berker Karaüzüm, Elif Bayraktar, Vildan Çiftçi, Uğur Bilge, Filiz Koç, Antonia F Demleitner, Anne Buchberger, Ricarda von Heynitz, Vincent Gmeiner, Christina Knellwolf, Mohammed Mouzouri, Joanne Wuu, A Nazli Başak, Peter Munch Andersen, Florian Kohlmayer, Nicholas J Ashton, Wojciech Kuban, Christof Lenz, Mary-Louise Rogers, Norbert Zilka, Philippe Corcia, Yossef Lerner, Markus Weber, Monika Turcanova Koprusakova, Hilmi Uysal, Michael Benatar, Michael P Menden, Paul Lingor","doi":"10.1186/s42466-025-00417-9","DOIUrl":"10.1186/s42466-025-00417-9","url":null,"abstract":"<p><strong>Introduction: </strong>The median time to diagnosis of amyotrophic lateral sclerosis (ALS) is approximately 12 months after the onset of first symptoms. This diagnostic delay is primarily due to the nonspecific nature of early symptoms and the clinical challenges in differentiating ALS from its mimics. Therefore, the discovery of reliable biomarkers for the early and accurate diagnosis of ALS represents a critical medical need.</p><p><strong>Methods: </strong>A total of 330 participants will be recruited across six international study sites. The cohort will include (1) pre-symptomatic gene mutation carriers, (2) symptomatic individuals up to 12 months after symptom onset with either ALS, ALS mimics, or a pure motor syndrome with yet unclear assignment, and (3) healthy controls. Participants will engage in a one-year longitudinal study, consisting of an initial evaluation at baseline visit and a follow-up visit 12 months later. Assessments will include an environmental and medical history questionnaire, neurological examinations, olfactory testing, cognitive/behavioral evaluations, and the collection of biological samples (serum, plasma, urine, tear fluid, and cerebrospinal fluid). Proteomic, metabolomic, and lipidomic analyses will be performed using mass spectrometry and targeted immunoassays, with all samples processed under standardized protocols. The resulting multimodal dataset will be systematically integrated in an effort to uncover a presymptomatic and early ALS signature. Perspective The premodiALS study aim to identify a clinico-molecular signature characteristic of presymptomatic and early ALS. These findings may have relevance to early diagnosis and future clinical practice for ALS disease.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"7 1","pages":"56"},"PeriodicalIF":3.2,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144884691","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}
引用次数: 0
Stroke survivors show an overestimation of their on-road driving performance. 中风幸存者对他们在道路上的驾驶表现估计过高。
IF 3.2
Neurological research and practice Pub Date : 2025-07-31 DOI: 10.1186/s42466-025-00406-y
Daniel A Schlueter, Gernot Horstmann, Kim L Austerschmidt, Jessica Koenig, Maximilian Flieger, Thomas Beblo, Martin Driessen, Wolf Schäbitz, Max Toepper
{"title":"Stroke survivors show an overestimation of their on-road driving performance.","authors":"Daniel A Schlueter, Gernot Horstmann, Kim L Austerschmidt, Jessica Koenig, Maximilian Flieger, Thomas Beblo, Martin Driessen, Wolf Schäbitz, Max Toepper","doi":"10.1186/s42466-025-00406-y","DOIUrl":"10.1186/s42466-025-00406-y","url":null,"abstract":"<p><strong>Objectives: </strong>Strokes are often accompanied by physical and cognitive impairments affecting driving safety. After the recommended period of abstinence from driving, the patient must decide whether his or her driving safety is still impaired, which requires a valid self-assessment of the own driving skills. At present, it is uncertain whether stroke survivors are able to provide a valid self-assessment.</p><p><strong>Methods: </strong>12 stroke patients and 17 healthy controls participated in this prospective longitudinal on-road study. All participants underwent repeated neuropsychological and standardized on-road assessment at 4-month intervals (2 and 6 months after the stroke in the patient group). Statistical analyses included repeated measures ANOVA, group comparisons and correlation analyses.</p><p><strong>Results: </strong>Our results revealed that in stroke survivors compared to healthy drivers, the validity of self-assessment (VSA) of the own on-road driving performance is impaired in the direction of overestimation (at both time points). In addition, the VSA of stroke survivors at second time point correlated with driving-relevant cognitive and non-cognitive measures.</p><p><strong>Discussion: </strong>Our results suggest that the VSA of the own driving competence is impaired after stroke. Other than expected, the differences between stroke survivors and healthy drivers did not disappear within the 4-months-interval. Consequently, an impaired VSA in stroke survivors must be considered before deciding to let them drive again.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"7 1","pages":"55"},"PeriodicalIF":3.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12315422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144762887","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}
引用次数: 0
Acute care of aneurysmal subarachnoid hemorrhage: practical consensus statement from a multidisciplinary group of German-speaking neurointensivists and neuroradiologists on behalf of the DIVI neurology section. 动脉瘤性蛛网膜下腔出血的急性护理:代表DIVI神经内科的德语神经强化学家和神经放射学家多学科小组的实际共识声明。
IF 3.2
Neurological research and practice Pub Date : 2025-07-30 DOI: 10.1186/s42466-025-00407-x
Rainer Kollmar, Hagen B Huttner, Yigit Ozpeynirci, Christian Herweh, Jochen A Sembill, Stefan Gerner, Michael Bender, Patrick Schramm, Ingo Schirotzek, Lisa Maeder, Anisa Myftiu, Marius Hartmann, Juergen Konczalla, Karsten Geletneky, Rainer Kram, Raimund Helbok, Joji B Kuramatsu, Martin Welte, Amr Abdulazim, Emanuela Keller, Ferdinand Bohmann, Wolf-Rüdiger Schäbitz
{"title":"Acute care of aneurysmal subarachnoid hemorrhage: practical consensus statement from a multidisciplinary group of German-speaking neurointensivists and neuroradiologists on behalf of the DIVI neurology section.","authors":"Rainer Kollmar, Hagen B Huttner, Yigit Ozpeynirci, Christian Herweh, Jochen A Sembill, Stefan Gerner, Michael Bender, Patrick Schramm, Ingo Schirotzek, Lisa Maeder, Anisa Myftiu, Marius Hartmann, Juergen Konczalla, Karsten Geletneky, Rainer Kram, Raimund Helbok, Joji B Kuramatsu, Martin Welte, Amr Abdulazim, Emanuela Keller, Ferdinand Bohmann, Wolf-Rüdiger Schäbitz","doi":"10.1186/s42466-025-00407-x","DOIUrl":"10.1186/s42466-025-00407-x","url":null,"abstract":"<p><strong>Background: </strong>Aneurysmal subarachnoid hemorrhage (aSAH) is a critical condition requiring multidisciplinary management, particularly in the intensive care setting. Despite existing guidelines, gaps in evidence and variability in practice remain, necessitating practical, consensus-driven recommendations for acute care and management.</p><p><strong>Objective: </strong>To develop comprehensive, practical consensus statement for the acute management of aSAH, addressing high- and low-evidence areas, through a modified Delphi consensus approach among German-speaking neurointensivists and neuroradiologists.</p><p><strong>Methods: </strong>Senior experts from neurology, neurosurgery, neurocritical care, and interventional neuroradiology were selected for their academic and clinical expertise. The consensus process included iterative rounds of Delphi surveys, a face-to-face meeting, and online discussions. Consensus statements were formulated based on literature review, expert input, and iterative validation, with a consensus threshold of ≥ 70% agreement.</p><p><strong>Results: </strong>The group reached consensus on key aspects of aSAH management, including diagnostic protocols, invasive monitoring, blood pressure and temperature control, prophylactic and therapeutic measures for vasospasm and delayed cerebral ischemia, nutrition, and mobilization. Specific guidance was provided for early surgical/endovascular intervention, invasive hemodynamic monitoring, enteral nutrition initiation, and fever prevention. The consensus emphasized evidence-informed strategies where available and expert-derived recommendations in areas lacking robust data, such as therapeutic hypothermia and multimodal monitoring.</p><p><strong>Conclusion: </strong>This practical consensus statement provides a standardized approach to aSAH management, balancing guideline-based evidence with expert consensus to address clinical uncertainties. Due to the used methods and composition of the group, the results should be considered as a multi-institutional protocol of an experienced neurointensivist group, but certainly not as evidence based-guidelines. Adoption of this consensus may improve outcomes and harmonize care in the intensive management of aSAH.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"7 1","pages":"54"},"PeriodicalIF":3.2,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12312491/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755526","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}
引用次数: 0
Work-related stressful events and burnout experienced by residents and specialists in German neurology: prevalence, causes, and coping strategies derived from a nationwide survey. 德国神经病学住院医师和专家所经历的与工作相关的压力事件和倦怠:来自全国调查的患病率、原因和应对策略。
IF 3.2
Neurological research and practice Pub Date : 2025-07-28 DOI: 10.1186/s42466-025-00415-x
Johannes Heinrich Alexander Piel, Anne-Sophie Biesalski, Robin Wolke, Annette Rogge, Helge Topka, Matthias Klein, Christoph Johannes Ploner, Frank Andres, Daniela Berg
{"title":"Work-related stressful events and burnout experienced by residents and specialists in German neurology: prevalence, causes, and coping strategies derived from a nationwide survey.","authors":"Johannes Heinrich Alexander Piel, Anne-Sophie Biesalski, Robin Wolke, Annette Rogge, Helge Topka, Matthias Klein, Christoph Johannes Ploner, Frank Andres, Daniela Berg","doi":"10.1186/s42466-025-00415-x","DOIUrl":"10.1186/s42466-025-00415-x","url":null,"abstract":"<p><strong>Background: </strong>Burnout is an increasing challenge and highly prevalent among healthcare professionals. Time-critical emergencies, high workload, the second-victim phenomenon, and moral distress have been identified as key risk factors of burnout. However, measures to mitigate the impact of stressful events have not yet been fully utilized and data in Germany is still limited.</p><p><strong>Methods: </strong>To address this gap, the Young Neurology section of the German Neurological Society conducted a nationwide survey between October 7 and November 18, 2024, assessing 318 Neurology residents and 175 Neurology specialists. The study examined the frequency of stressful events, risk factors, coping mechanisms, and burnout severity.</p><p><strong>Results: </strong>Stressful events occurred monthly and most often in emergency rooms, intensive care units, and general wards. Most residents were at risk of burnout and often lacked direct supervision during critical incidents. Common training-independent causes were high patient numbers, the second-victim phenomenon, and poor communication. Knowledge and skill related causes were specific to residents. Burnout was independently correlated to the frequency of stressful events, job satisfaction, institutional factors, age, number of children, and debriefing offer. While job satisfaction was generally good, 30% of participants thought about changing the employer and 10% about leaving Neurology. Dysfunctional coping strategies including the use of alcohol and medication were common and significantly correlated with increased burnout risk. The most relevant mitigation strategies were structured onboarding, debriefing, and improvement of processes.</p><p><strong>Conclusion: </strong>Our findings confirm high burnout rates, particularly during residency, and highlight the urgent need for targeted intervention.</p><p><strong>Trial registration: </strong>The study was registered in the German Clinical Trial Register (DRKS-ID DRKS00035214) on 7 October 2024.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"7 1","pages":"52"},"PeriodicalIF":3.2,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144736446","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}
引用次数: 0
User groups of inpatient multidisciplinary therapies for Parkinson's disease in Germany: a bicenter prospective observational study. 德国帕金森病住院多学科治疗的用户群体:一项双中心前瞻性观察研究
IF 3.2
Neurological research and practice Pub Date : 2025-07-28 DOI: 10.1186/s42466-025-00409-9
Vera Tschentscher, Judith Oppermann, Julius Welzel, Johanna Geritz, Ralf Gold, Siegfried Muhlack, Clint Hansen, Walter Maetzler, Lars Tönges, Raphael Scherbaum
{"title":"User groups of inpatient multidisciplinary therapies for Parkinson's disease in Germany: a bicenter prospective observational study.","authors":"Vera Tschentscher, Judith Oppermann, Julius Welzel, Johanna Geritz, Ralf Gold, Siegfried Muhlack, Clint Hansen, Walter Maetzler, Lars Tönges, Raphael Scherbaum","doi":"10.1186/s42466-025-00409-9","DOIUrl":"10.1186/s42466-025-00409-9","url":null,"abstract":"<p><strong>Background: </strong>In Germany, multidisciplinary care for people with Parkinson's disease (PwP, PD) is mainly provided in the inpatient setting. Differences in user groups between established and effective interventions like PD Multimodal Complex Therapy (PD-MCT) and Geriatric Complex Therapy (GCT) have not been investigated.</p><p><strong>Methods: </strong>This real-world bicenter prospective observational study involved PwP undergoing 14-day inpatient multidisciplinary therapies at two German university hospitals providing either PD-MCT or GCT. Demographic and clinical variables were recorded before and device-based gait variables before and after therapy. Non-parametric and parametric tests including ANCOVA with age as covariate were conducted to compare groups at baseline, and an exploratory binomial logistic regression (LR) to identify predictors of 'therapy response' concerning gait speed.</p><p><strong>Results: </strong>Between 09/2017 and 09/2022, 100 (41% female) and 102 (34.3% female) PwP received GCT or PD-MCT, with significant (p < 0.003) mean or median differences (GCT vs. PD-MCT) in age (74.7 vs. 65.6 years), disease duration (9.9 vs. 7.4 years), and HY stage (3 vs. 2.5). The GCT group showed significantly reduced lower extremity (SPPB), global cognitive (MoCA) and executive function (TMT), lower quality of life, and higher fear of falling (FES-I). There were significant (p < 0.004) between-group differences in gait parameters at both normal and fast pace, e.g., reduced gait speed and step length among GCT users. After age-adjustment, differences in gait speed, fast-pace step length, lower extremity and executive function, fear of falling and quality of life persisted. The exploratory LR model was statistically significant (p < 0.05, R<sup>2</sup> = 0.312) and revealed lower fear of falling and gait speed as predictors of 'therapy response', independent of therapy type, age, sex, disease duration or stage.</p><p><strong>Conclusion: </strong>GCT users show higher age and severity, particularly concerning mobility impairments independent of age. It is unclear if, on a national level, actual PD-MCT/GCT user groups align with intended target groups. Health insurance data analyses could help refine clinical recommendations and public health policies for more targeted multidisciplinary PD care.</p><p><strong>Trial registration: </strong>Park Move Study: DRKS, DRKS00020948. Registered 30 March 2020-retrospectively registered, https://drks.de/search/de/trial/DRKS00020948/details.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"7 1","pages":"53"},"PeriodicalIF":3.2,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306091/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144736445","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}
引用次数: 0
Decoding glioblastoma survival: unraveling the prognostic potential of olfactory function in a prospective observational study. 解码胶质母细胞瘤存活:在一项前瞻性观察研究中揭示嗅觉功能的预后潜力。
IF 3.2
Neurological research and practice Pub Date : 2025-07-24 DOI: 10.1186/s42466-025-00410-2
Christoph Oster, Aylin Matyar, Teresa Schmidt, Thomas Hummel, Elke Hattingen, Martha Jokisch, Daniel Jokisch, Jana Grieger, Giorgio Cappello, Kathrin Kizina, Lazaros Lazaridis, Yahya Ahmadipour, Laurèl Rauschenbach, Martin Stuschke, Christoph Pöttgen, Nika Guberina, Tobias Tertel, Bernd Giebel, Gian Luca Dreizner, Francesco Barbato, Eva-Maria Skoda, Björn Scheffler, Michael Müther, Ken Herrmann, Christoph Kleinschnitz, Ulrich Sure, Cornelius Deuschl, Martin Glas, Sied Kebir
{"title":"Decoding glioblastoma survival: unraveling the prognostic potential of olfactory function in a prospective observational study.","authors":"Christoph Oster, Aylin Matyar, Teresa Schmidt, Thomas Hummel, Elke Hattingen, Martha Jokisch, Daniel Jokisch, Jana Grieger, Giorgio Cappello, Kathrin Kizina, Lazaros Lazaridis, Yahya Ahmadipour, Laurèl Rauschenbach, Martin Stuschke, Christoph Pöttgen, Nika Guberina, Tobias Tertel, Bernd Giebel, Gian Luca Dreizner, Francesco Barbato, Eva-Maria Skoda, Björn Scheffler, Michael Müther, Ken Herrmann, Christoph Kleinschnitz, Ulrich Sure, Cornelius Deuschl, Martin Glas, Sied Kebir","doi":"10.1186/s42466-025-00410-2","DOIUrl":"10.1186/s42466-025-00410-2","url":null,"abstract":"<p><strong>Introduction: </strong>Olfactory impairment is common in glioblastoma and has been associated with unfavorable overall survival. However, prior studies were limited by imbalances in key prognostic factors and the absence of longitudinal olfactory assessments to evaluate treatment-related neurotoxicity. The aim of the study is to determine whether olfactory function serves as an independent prognostic marker for survival, neurocognitive outcomes, and quality of life in glioblastoma.</p><p><strong>Methods: </strong>Prospective, multicenter cohort study enrolling 64 glioblastoma patients and 64 matched healthy controls. Patients are stratified by extent of resection, O6-Methylguanine-DNA Methyltransferase promoter methylation, radiographic involvement of olfactory regions, baseline olfactory status, age, and Karnofsky performance status. Olfactory function is assessed serially using Sniffin' Sticks (identification and threshold tests) from diagnosis through treatment. Coronal T2- and T1-weighted MRI scans are reviewed independently by two blinded neuroradiologists to detect olfactory region involvement. Neurocognitive testing, psychosocial screening, and quality of life assessments are conducted at defined intervals. Next-generation sequencing from tumor tissue is employed to explore molecular underpinnings of hyposmia. Blood samples are collected in every study visit for potential parallel translational studies.</p><p><strong>Perspective: </strong>This is the first longitudinal study evaluating olfactory function as a prognostic biomarker in glioblastoma. Findings may inform risk stratification, guide neuroprotective strategies, and improve survivorship care.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov, NCT06954636, date of registration 04-16-2025 (retrospectively registered); https://clinicaltrials.gov/study/NCT06954636?cond=glioblastoma&intr=olfactory&rank=1 .</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"7 1","pages":"51"},"PeriodicalIF":3.2,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710407","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}
引用次数: 0
Use of cannabidiol for off-label treatment of patients with refractory focal, genetic generalised and other epilepsies. 大麻二酚用于难治性局灶性、遗传性全身性和其他癫痫患者的超说明书治疗。
IF 3.2
Neurological research and practice Pub Date : 2025-07-22 DOI: 10.1186/s42466-025-00408-w
Marie Hollander, Thomas Mayer, Kerstin Alexandra Klotz, Susanne Knake, Felix von Podewils, Gerhard Kurlemann, Ilka Immisch, Felix Rosenow, Susanne Schubert-Bast, Adam Strzelczyk
{"title":"Use of cannabidiol for off-label treatment of patients with refractory focal, genetic generalised and other epilepsies.","authors":"Marie Hollander, Thomas Mayer, Kerstin Alexandra Klotz, Susanne Knake, Felix von Podewils, Gerhard Kurlemann, Ilka Immisch, Felix Rosenow, Susanne Schubert-Bast, Adam Strzelczyk","doi":"10.1186/s42466-025-00408-w","DOIUrl":"10.1186/s42466-025-00408-w","url":null,"abstract":"<p><strong>Background: </strong>In randomized controlled trials, add-on cannabidiol (CBD) has been shown to reduce seizure frequency in patients with Lennox-Gastaut syndrome, Dravet syndrome and Tuberous sclerosis complex. Real-world studies provide insights into the drug's profile in other off-label indications. This study evaluated factors predicting efficacy, retention, and tolerability of add-on CBD used for off-label treatment in clinical practice for patients with refractory focal-onset, genetic generalised, and other unclassified epilepsies.</p><p><strong>Methods: </strong>A retrospective cohort study recruiting all patients who had started CBD between 2019 and 2023 for off-label treatment at six German epilepsy centres. Data on baseline and follow-up were obtained from patients' medical records.</p><p><strong>Results: </strong>A total of 108 patients (mean age 27.3; median 36; range 1.4-68 years, 56 male) were treated with CBD. At three months, 42 (38.9% considering all 108 patients that started CBD) reported at least a 50% reduction in seizures, including 28 patients (25.9%) with a 50-74% reduction, and 14 (13%) with a reduction of 75-99%. Among those 48 patients experiencing tonic-clonic seizures (TCS), at least 50% response was reported by 45.8%, and eight (16.7%) patients were free of TCS. Sex, age, epilepsy syndrome, concomitant clobazam (CLB) use, and the number of concomitant or previous ASMs were not predictive of response. Mean seizure days per month significantly decreased from a mean of 16.8 (median: 13.5) to 14.5 (median 10, p = 0.002). The probability of patients remaining on CBD treatment was 85.2% (n = 92/108, 16 discontinuations) at three months, 73.5% at six months and 61.1% at twelve months; retention was better in children or adolescents compared to adults (log-rank p = 0.014). Using the CGI-C for overall impression, 69 (63.0%) patients were rated as very much, much, or minimally improved; for behaviour, 60 (55.6%) reported within this range of improvement. TEAEs were reported in 41 (38%) patients. The most frequent were diarrhoea (n = 15), sedation (n = 13), and nausea and vomiting (n = 7).</p><p><strong>Conclusions: </strong>Our results suggest CBD to be an effective ASM, with 50% responder rates similar to those observed in regulatory trials for other ASMs licensed in focal epilepsies. Its off-label use in refractory focal-onset, genetic generalised, and other unclassified epilepsies seems to be safe and well-tolerated.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"7 1","pages":"49"},"PeriodicalIF":3.2,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12285166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692874","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}
引用次数: 0
Retinal ischemia due to different stages of atherosclerosis - insights from a retrospective study on central retinal artery occlusion. 不同阶段动脉粥样硬化引起的视网膜缺血——来自视网膜中央动脉闭塞的回顾性研究。
IF 3.2
Neurological research and practice Pub Date : 2025-07-22 DOI: 10.1186/s42466-025-00413-z
Felix Schlachetzki, Ina Feistenauer, Michael Ertl, Mustafa Kilic, Fabian Aden, David Pollinger, Horst Helbig, Christina Wendl, Karin Pfister, Lars Krenkel, Maria Andreea Gamulescu, Ralf Andreas Linker, Sibylle Wilfling
{"title":"Retinal ischemia due to different stages of atherosclerosis - insights from a retrospective study on central retinal artery occlusion.","authors":"Felix Schlachetzki, Ina Feistenauer, Michael Ertl, Mustafa Kilic, Fabian Aden, David Pollinger, Horst Helbig, Christina Wendl, Karin Pfister, Lars Krenkel, Maria Andreea Gamulescu, Ralf Andreas Linker, Sibylle Wilfling","doi":"10.1186/s42466-025-00413-z","DOIUrl":"10.1186/s42466-025-00413-z","url":null,"abstract":"<p><strong>Background: </strong>Ischemic stroke (IS) and retinal ischemia (IR) share similar vascular risk factors, but differ in their risk for subsequent or recurrent stroke and therapeutic options. This study characterizes the cardiovascular risk profiles and magnitude of atherosclerosis of the carotid artery of patients with central retinal artery occlusion (CRAO) in relation to the presence of the retrobulbar \"spot sign\" on orbital color-coded sonography (OCCS).</p><p><strong>Methods: </strong>We performed a retrospective analysis on the detailed cardiovascular risk factors and neuroimaging data in patients with IR presenting between 2009 and 2023. Based on OCCS findings, CRAO were further divided into hyperechoic (\"spot sign positive\", ssCRAO) or hypoechoic CRAO (heCRAO). Statistical analyses were performed with Mann-Whitney-U and χ [2] testing. P-values were considered significant if < 0.05.</p><p><strong>Results: </strong>Overall, 112 patients were identified (heCRAO: n = 32; ssCRAO: n = 80). ssCRAO patients were significantly older (median 74 years vs. 66.5 years, Mann-Whitney-U: p-value < 0.001). Overall, 15/103 (14.6%) patients had concurrent acute ischemic stroke- 9 in the ipsilateral internal carotid territory, 2 in other territories and 4 disseminated. Further significant differences were found regarding the echogenicity of atherosclerosis (AS) in the two subgroups with (mainly) echorich AS being more common in the ssCRAO group (p-value < 0.001, n = 108) and the distribution of high-grade vs. low-grade stenoses of the ipsi- and contralateral carotid artery (p-value < 0.05, n = 99). 20 out of 112 patients had atrial fibrillation (aFib) with 17 of these being on ongoing oral anticoagulation.</p><p><strong>Conclusion: </strong>According to this study, atherosclerosis may be one of the most important risk factors for IR while a specific embolic source could not be demonstrated (i.e. acute plaque rupture). By contrast, current oral anticoagulation for aFib in CRAO patients was high, thus only an incidental finding and may be an incidental finding due to its prevalence in the elderly. Furthermore, we were able to distinguish two subgroups of IR that differ in risk factors and most likely also in etiology, therapy and prognosis. The study underlines the importance of OCCS to detect \"spot signs\" in IR with indications for both, acute thrombolysis and secondary prevention.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"7 1","pages":"50"},"PeriodicalIF":3.2,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12285047/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692873","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}
引用次数: 0
Management of disease-modifying therapies in multiple sclerosis and comorbid rheumatoid arthritis. 多发性硬化症和共病类风湿性关节炎的疾病改善治疗管理。
Neurological research and practice Pub Date : 2025-07-17 DOI: 10.1186/s42466-025-00414-y
Franz Felix Konen, Torsten Witte, Diana Ernst, David Hagin, Konstantin Fritz Jendretzky, Nora Möhn, Sandra Nay, Lea Grote-Levi, Kurt-Wolfram Sühs, Luisa Klotz, Steffen Pfeuffer, Refik Pul, Christoph Kleinschnitz, Marc Pawlitzki, Sven G Meuth, Thomas Skripuletz
{"title":"Management of disease-modifying therapies in multiple sclerosis and comorbid rheumatoid arthritis.","authors":"Franz Felix Konen, Torsten Witte, Diana Ernst, David Hagin, Konstantin Fritz Jendretzky, Nora Möhn, Sandra Nay, Lea Grote-Levi, Kurt-Wolfram Sühs, Luisa Klotz, Steffen Pfeuffer, Refik Pul, Christoph Kleinschnitz, Marc Pawlitzki, Sven G Meuth, Thomas Skripuletz","doi":"10.1186/s42466-025-00414-y","DOIUrl":"10.1186/s42466-025-00414-y","url":null,"abstract":"<p><strong>Background: </strong>Comorbid autoimmune disorders, including rheumatoid arthritis (RA), are common in people with multiple sclerosis (MS). Both conditions share pathogenic similarities, enabling potential overlap in treatments. While numerous disease-modifying therapies (DMT) are approved for MS and new options are under clinical trial, their effectiveness in RA varies.</p><p><strong>Main body: </strong>A PubMed literature review was conducted to evaluate the effects of approved and currently investigated MS-DMT on MS and RA and vice versa. Certain MS-DMT showed beneficial effects for RA, such as teriflunomide, anti-CD20 therapies, and cladribine, while others demonstrated no significant impact (type-I interferons, Bruton´s tyrosine kinase (BTK) inhibitors) or lacked trials (sphingosine-1-phosphate receptor modulators, glatiramer acetate). In contrast, BTK inhibitors were shown to be effective for inactive secondary progressive forms of MS, whereas secukinumab showed limited effects in relapsing MS. Concerning DMT for RA in MS, no significant benefit was observed for abatacept, and there are no trials for Janus kinase inhibitors, or interleukin-(IL)-6 receptor inhibitors (tocilizumab, sarilumab). Adverse events, including RA exacerbation, were reported for some MS-DMT like dimethyl fumarate, alemtuzumab, and natalizumab. Tumor necrosis factor alpha (TNFα) inhibitors increased disease activity in MS patients.</p><p><strong>Conclusion: </strong>Among approved DMT for MS and RA, teriflunomide and anti-CD20 therapies are the most suitable options for moderately or highly active MS with comorbid RA. Cladribine may also be considered, while TNFα inhibitors are contraindicated.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"7 1","pages":"48"},"PeriodicalIF":0.0,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12273305/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144661478","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}
引用次数: 0
Atrophy related neuroimaging biomarkers for neurological and cognitive function in Wilson disease. Wilson病中神经和认知功能的萎缩相关神经成像生物标志物。
Neurological research and practice Pub Date : 2025-07-01 DOI: 10.1186/s42466-025-00401-3
Ann Carolin Hausmann, Christian Rubbert, Silja K Querbach, Vivien Lorena Ivan, Alfons Schnitzler, Christian Johannes Hartmann, Julian Caspers
{"title":"Atrophy related neuroimaging biomarkers for neurological and cognitive function in Wilson disease.","authors":"Ann Carolin Hausmann, Christian Rubbert, Silja K Querbach, Vivien Lorena Ivan, Alfons Schnitzler, Christian Johannes Hartmann, Julian Caspers","doi":"10.1186/s42466-025-00401-3","DOIUrl":"10.1186/s42466-025-00401-3","url":null,"abstract":"<p><strong>Background: </strong>Although brain atrophy is a prevalent finding in Wilson disease (WD), its role as a contributing factor to clinical symptoms, especially cognitive decline, remains unclear. The objective of this study was to investigate different neuroimaging biomarkers related to grey matter atrophy and their relationship with neurological and cognitive impairment in WD.</p><p><strong>Methods: </strong>In this study, 30 WD patients and 30 age- and sex-matched healthy controls were enrolled prospectively and underwent structural magnetic resonance imaging (MRI). Regional atrophy was evaluated using established linear radiological measurements and the automated workflow volumetric estimation of gross atrophy and brain age longitudinally (veganbagel) for age- and sex-specific estimations of regional brain volume changes. Brain Age Gap Estimate (BrainAGE), defined as the discrepancy between machine learning predicted brain age from structural MRI and chronological age, was assessed using an established model. Atrophy markers and clinical scores were compared between 19 WD patients with a neurological phenotype (neuro-WD), 11 WD patients with a hepatic phenotype (hep-WD), and a healthy control group using Welch's ANOVA or Kruskal-Wallis test. Correlations between atrophy markers and neurological and neuropsychological scores were investigated using Spearman's correlation coefficients.</p><p><strong>Results: </strong>Patients with neuro-WD demonstrated increased third ventricle width and bicaudate index, along with significant striatal-thalamic atrophy patterns that correlated with global cognitive function, mental processing speed, and verbal memory. Median BrainAGE was significantly higher in patients with neuro-WD (8.97 years, interquartile range [IQR] = 5.62-15.73) compared to those with hep-WD (4.72 years, IQR = 0.00-5.48) and healthy controls (0.46 years, IQR = - 4.11-4.24). Striatal-thalamic atrophy and BrainAGE were significantly correlated with neurological symptom severity.</p><p><strong>Conclusions: </strong>Our findings indicate advanced predicted brain age and substantial striatal-thalamic atrophy patterns in patients with neuro-WD, which serve as promising neuroimaging biomarkers for neurological and cognitive functions in treated, chronic WD.</p>","PeriodicalId":94156,"journal":{"name":"Neurological research and practice","volume":"7 1","pages":"47"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12217823/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144546704","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}
引用次数: 0
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