Matthias Tomschik, Eva Horner, Alexandra Lang, Florian Mayer, Thomas Czech, Gregor Kasprian, Ekaterina Pataraia, Amedeo A. Azizi, Martha Feucht, Karl Rössler, Christine Haberler, Christian Dorfer
{"title":"BRAF V600E Mutation in Ganglioglioma: Impact on Epileptogenicity and Implications for Surgical Strategy","authors":"Matthias Tomschik, Eva Horner, Alexandra Lang, Florian Mayer, Thomas Czech, Gregor Kasprian, Ekaterina Pataraia, Amedeo A. Azizi, Martha Feucht, Karl Rössler, Christine Haberler, Christian Dorfer","doi":"10.1111/ene.70136","DOIUrl":"https://doi.org/10.1111/ene.70136","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Gangliogliomas are commonly found pathologies in patients undergoing epilepsy surgery. While resections can be curative, seizure relapses occur. Expression of CD34 and the BRAF V600E mutation are the most common molecular biomarkers found in gangliogliomas, but their influence on seizure outcomes is unclear. We therefore reviewed our experience over two decades to better describe prognostic factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed a retrospective chart review of all patients operated on for ganglioglioma at our institution since the year 2000. We included patients with preoperative epilepsy and a minimum follow-up of 1 year. Available tumor specimens were immunohistochemically stained for CD34 and BRAF V600E.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 62 patients with epilepsy operated for ganglioglioma. Lesionectomies were performed in 32 (51.6%), extended resections in 21 (33.9%), and partial resections in 9 cases (14.5%). Residual tumor mass on postoperative MRI was diagnosed in 21 patients (33.9%). CD34 reactivity was found in 57 patients (91.9%) and the BRAF V600E mutation was detected in 30 patients (48.4%). Patients with a BRAF V600E mutation were younger at the time of epilepsy onset (9.1 years vs. 15.2 years) and surgery (14.5 years vs. 23.7 years). Residual tumor was the largest risk factor for seizure relapses (hazard ratio 8.45) and the BRAF V600E mutation also increased this risk (hazard ratio 3.94).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>BRAF V600E status in patients with ganglioglioma-associated epilepsy is a potential biomarker to stratify the risk for seizure relapse after surgery. BRAF V600E-positive patients might benefit from a more aggressive surgical strategy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 4","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70136","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143778452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Angelo Cascio Rizzo, Ghil Schwarz, Andrea Bonelli, Chiara Ceresa, Benedetta De Chiara, Antonella Moreo, Maria Sessa
{"title":"Sex Differences in Embolic Stroke of Undetermined Source: Echocardiographic Features and Clinical Outcomes","authors":"Angelo Cascio Rizzo, Ghil Schwarz, Andrea Bonelli, Chiara Ceresa, Benedetta De Chiara, Antonella Moreo, Maria Sessa","doi":"10.1111/ene.70133","DOIUrl":"https://doi.org/10.1111/ene.70133","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Sex differences in stroke are well-documented, but in embolic stroke of undetermined source (ESUS) remains underexplored. This study aims to investigate sex-related differences in clinical and cardiac features and stroke outcomes in ESUS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Retrospective observational single-center study including consecutive ESUS patients. Multivariate regression analyses evaluated the association between sex, echocardiographic features, and 90-day outcomes. Cox regression assessed the independent effect of sex on ischemic stroke recurrence, all-cause death, and atrial fibrillation detection after stroke (AFDAS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 556 patients, 248 (44.6%) were women, who were older and had more severe strokes. Women exhibited larger left atria (LA) as evidenced by a higher LA volume index (adjusted β-coefficient = 2.59, 95% CI 0.53–4.65, <i>p</i> = 0.014) and more valve abnormalities, such as mitral annulus calcification (aOR 2.72; 95% CI 1.43–5.20, <i>p</i> = 0.002). Men showed more markers of left ventricular (LV) disease, including reduced ejection fraction < 50% (aOR 0.44; 95% CI 0.20–0.93, <i>p</i> = 0.033) and LV wall motion abnormalities (aOR 0.37; 95% CI 0.19–0.74, <i>p</i> = 0.005). In multivariate analyses, the female sex was independently associated with reduced all-cause death (aHR 0.59; 95% CI 0.38–0.91, <i>p</i> = 0.019) and showed a trend toward higher AFDAS risk (aHR 1.57; 95% CI 0.99–2.49, <i>p</i> = 0.053). No association was found with 90-day outcomes or stroke recurrence.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>ESUS patients exhibit significant sex-based differences in echocardiographic features, with women showing larger LA and more valve abnormalities, while men present greater LV dysfunction. Female sex is independently associated with a lower risk of long-term mortality and a potentially higher risk of AFDAS. These findings underscore the need for individualized, sex-specific ESUS management strategies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 4","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70133","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143778230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Martin Schmidauer, Fabian Föttinger, Klaus Berek, Michael Auer, Robert Barket, Franziska Di Pauli, Nik Krajnc, Laura Stichaller, Sina Zaic, Anne Zinganell, Florian Deisenhammer, Janette Walde, Gabriel Bsteh, Harald Hegen
{"title":"Reactive Pleocytosis After Repeated Lumbar Puncture—Implications for Clinical Practice","authors":"Martin Schmidauer, Fabian Föttinger, Klaus Berek, Michael Auer, Robert Barket, Franziska Di Pauli, Nik Krajnc, Laura Stichaller, Sina Zaic, Anne Zinganell, Florian Deisenhammer, Janette Walde, Gabriel Bsteh, Harald Hegen","doi":"10.1111/ene.70117","DOIUrl":"https://doi.org/10.1111/ene.70117","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Lumbar puncture (LP) is a routine clinical procedure and, in some cases, is repeatedly performed for diagnostic or therapeutic reasons. The impact of repeated LP on cerebrospinal fluid (CSF) findings is not clear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To investigate whether repeated LP is associated with reactive pleocytosis and disruption of blood–CSF barrier function and to determine the role of interval between repeated LP.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patients with non-inflammatory neurological disease (NIND) and at least two consecutive LP were included. Longitudinal changes in CSF white blood cell count (WBC), CSF total protein (TP), and CSF/serum albumin quotient (Q<sub>alb</sub>) were assessed depending on the time interval between the LP.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 73 patients with a median age of 35 years (25th–75th percentile: 25–45) and a female predominance of 75% had second LP after 6 (3–19) days. Twenty (27%) patients developed pleocytosis with an increase of WBC count to 8/μl (6–15) with a maximum of 30/μl. Patients with pleocytosis had the follow-up LP significantly earlier than patients without pleocytosis, 3.5 (3–7) versus 7 (3–28) days. The majority of patients (90%) with CSF pleocytosis had the second LP within 10 days. Further repeated LP in a subgroup of patients revealed similar findings. CSF TP and Q<sub>alb</sub> slightly increased in patients with pleocytosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Mild “reactive” CSF pleocytosis occurred in approximately one-third of patients after repeated LP, mostly when performed within 10 days.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 4","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70117","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143778232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Letter to the Editor: ‘Causes of Hospitalisation and Mortality in Persons With Epilepsy: The EpiLink Bologna Cohort, Italy’","authors":"Maanini Singhvi, Leroy D'Souza, Vivekhan Raja, Rohan Nikhil Dubeer","doi":"10.1111/ene.70126","DOIUrl":"https://doi.org/10.1111/ene.70126","url":null,"abstract":"<p>It is with great interest that we have read the article by Muccioli et al. [<span>1</span>] which addresses the causes of hospitalisation and mortality in persons with epilepsy (PWEs). While the study provides valuable insights, we would like to address some additional perspectives, especially regarding the limitations of the ILAE (International League Against Epilepsy) classification, the time since diagnosis of epilepsy in each patient and the patients' socioeconomic status, quality of life in the post-ictal phase, which were not fully explored in this study. Addressing these aspects could significantly enhance the care given to PWEs pre- and post-admissions.</p><p>While the study's categorisation of the sample was robust, a subgroup analysis could have been performed on the basis of age, gender and duration of symptoms, which, if considered, can enhance the validity of the results. Furthermore, the age at diagnosis and the duration of disease were not parameters taken into consideration for categorisation or subgroup analysis. PWEs diagnosed in childhood would have much higher rates of mortality and various other comorbidities, which may not be present in adults diagnosed with epilepsy. Patients suffering from epilepsy for longer periods of time are naturally predisposed to more electrolyte imbalances, trauma, cerebrovascular diseases, infections or other conditions requiring hospitalisation.</p><p>This study employs the ILAE 2017 classification, which has limitations of its own. Consciousness in defining seizures has been voluntarily removed from this classification in an attempt to use simpler terminologies. Instead, the term awareness is used. However, the term is still valid and clinically significant as many seizures present with an impaired consciousness level, which could indicate the severity of the patients' condition, something which the term ‘awareness’ cannot provide. Further stressing the importance of consciousness is the result of a survey conducted by Mathern et al., in which about 77% of the respondents believe that the term ‘consciousness’ was significant, and therefore, should be maintained in the seizure and epilepsy classification. Additionally, patients with sensory-motor deficits may have behavioural unresponsiveness, which can lead to impaired awareness, but unimpaired consciousness [<span>2</span>].</p><p>Although the authors mention the interventions (polytherapy and monotherapy) that patients received, they omit describing the role of lifestyle in triggering seizures and how comorbidities can be managed by simple lifestyle changes. Ensuring adequate REM sleep and having a stress-free lifestyle is crucial to avoid seizure episodes [<span>3</span>]. Alcohol, a well-known trigger for epilepsy, when consumed in excess or for long periods, can cause increased rates of hospitalisation, episodes of status epilepticus and sudden unexpected death in epilepsy (SUDEP) [<span>4</span>]. Considering these parameters in future ","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 4","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70126","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143778231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Johannes Dorst, Jens Dreyhaupt, Deborah Wernecke, Ulrike Weiland, Özlem Parlak, Maximilian Wiesenfarth, Zeynep Elmas, Christine Herrmann, Hansjörg Bäzner, Axel Boertlein, Silke Dempewolf, Christian Foerch, Martin Hecht, Andreas Kohler, Christian Opherk, Katharina Althaus, Monika Clauer-Bredt, Alfred Lindner, Wolfgang Ruf, David Brenner, Simon Witzel, Raphael S. Peter, Joachim Schuster, Albert C. Ludolph, Angela Rosenbohm, Gabriele Nagel
{"title":"Population-Based Versus Hospital-Based Data in Amyotrophic Lateral Sclerosis—A Factor to Consider?","authors":"Johannes Dorst, Jens Dreyhaupt, Deborah Wernecke, Ulrike Weiland, Özlem Parlak, Maximilian Wiesenfarth, Zeynep Elmas, Christine Herrmann, Hansjörg Bäzner, Axel Boertlein, Silke Dempewolf, Christian Foerch, Martin Hecht, Andreas Kohler, Christian Opherk, Katharina Althaus, Monika Clauer-Bredt, Alfred Lindner, Wolfgang Ruf, David Brenner, Simon Witzel, Raphael S. Peter, Joachim Schuster, Albert C. Ludolph, Angela Rosenbohm, Gabriele Nagel","doi":"10.1111/ene.70137","DOIUrl":"https://doi.org/10.1111/ene.70137","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Over the past years, some studies in amyotrophic lateral sclerosis (ALS) have provided heterogeneous findings regarding demographic and clinical data as well as the impact of various prognostic factors. It is well known that these inconsistencies might be caused by a selection bias in hospital-based data sets. In this study, we sought to further characterize this selection bias.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We compared hospital-based data from the ALS center at Ulm University (UC; <i>n</i> = 3833; 1997–2021) with the population-based ALS registry Swabia (SR; <i>n</i> = 852; 2010–2020).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Patients from UC were younger (age of onset 60.9 [IQR 52.4–68.9] vs. 65.0 [57.0–72.7]), had a higher share of males (60.5% vs. 56.3%), a longer diagnostic delay (10.5 [IQR 6.4–18.4] months vs. 6.9 [IQR 3.4–12.1] months), a higher prevalence of the “definite” category according to El Escorial diagnostic criteria (60.9% vs. 11.2%), a higher share of familial cases (12.9% vs. 6.3%), a slower progression rate (points of ALS functional rating scale revised lost per month −0.54 [IQR −1.02 to −0.28] vs. −0.79 [IQR −1.47 to −0.43]), and (among all deceased patients) a higher share of percutaneous endoscopic gastrostomy (26.7% vs. 17.7%) and non-invasive ventilation (34.3% vs. 25.3%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The observed differences likely indicate a selection bias in hospital-based data, which may be attributed, among others, to the willingness to travel large distances to a specialized center, the desire to participate in clinical studies, and the attitude toward life-prolonging measures. These differences must be considered when interpreting and generalizing study results from hospital-based populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 4","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70137","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143770170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zhi-li Chen, Li-mei Xiao, Chun Li, Liang-liang Qiu, Wei Lin, Zhi-xian Ye, Yuan-yuan Zhang, Zhi-bao Zhu, Meng-cheng Li, Min-ting Lin, Wan-jin Chen, Ning Wang, Ying Fu, Shi-rui Gan, OSCCAR Investigators
{"title":"Fatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3","authors":"Zhi-li Chen, Li-mei Xiao, Chun Li, Liang-liang Qiu, Wei Lin, Zhi-xian Ye, Yuan-yuan Zhang, Zhi-bao Zhu, Meng-cheng Li, Min-ting Lin, Wan-jin Chen, Ning Wang, Ying Fu, Shi-rui Gan, OSCCAR Investigators","doi":"10.1111/ene.70093","DOIUrl":"https://doi.org/10.1111/ene.70093","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Fatigue is a significant symptom in patients with spinocerebellar ataxia type 3 (SCA3). This study explores the role of fatigue in SCA3, examining its impact on quality of life and its potential as an indicator of disease progression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We prospectively recruited 128 molecularly confirmed SCA3 patients and 125 sex-, age-, and education-matched healthy controls (HCs). Age at onset, disease duration, length of normal and expanded CAG repeats, and 14-item Fatigue Scale score were compared. MRIs evaluated the cerebellum and brain lesions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our study found that the preataxic SCA3 group exhibited lower fatigue incidence and score than HCs (Incidence: 13% vs. 36%, <i>p</i> = 0.031; FS-14 score: 3.0 ± 2.7 vs. 5.6 ± 2.8, <i>p</i> < 0.001). Ataxic SCA3 patients experienced significantly higher fatigue incidence and score compared to both the preataxic SCA3 group (Incidence: 63.8% vs. 13%, <i>p</i> < 0.001; FS-14 score: 8.1 ± 3.9 vs. 3.0 ± 2.7, <i>p</i> < 0.001) and HCs (Incidence: 63.8% vs. 36%, <i>p</i> < 0.001; FS-14 score: 8.1 ± 3.9 vs. 5.6 ± 2.8, <i>p</i> < 0.001). Moreover, fatigue severity in SCA3 correlated with disease duration and expanded CAG repeat length. Neuroanatomical correlations revealed volume reductions in cortical and cerebellar regions linked to higher physical and mental fatigue scores in SCA3 patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Monitoring fatigue effectively evaluates a patient's overall quality of life and disease progression, making it a key indicator. Future treatments can target specific brain regions, with their effectiveness being evaluated through FS-14 assessments of fatigue changes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 4","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70093","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Michela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, Bruno Eymard, Ana Ferreiro, Edoardo Malfatti, Anthony Béhin
{"title":"Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age","authors":"Michela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, Bruno Eymard, Ana Ferreiro, Edoardo Malfatti, Anthony Béhin","doi":"10.1111/ene.70109","DOIUrl":"https://doi.org/10.1111/ene.70109","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Congenital myopathies (CMyo) are a group of rare inherited muscle disorders classified to date according to myopathological features on muscle biopsy. They usually present with an early onset, with a slow or non-progressive muscle weakness. The phenotypic spectrum is wide, ranging from severe early onset forms to milder and later onset conditions. Data regarding the disease trajectory of CMyo in adult patients are lacking. Here, we describe the clinical, myopathological, and genetic features of a large cohort of adult CMyo patients to facilitate their management in adulthood.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Global data of a cohort of 142 myopathologically and genetically defined adult patients, 76 women and 66 men, followed at Institute of Myology of the Pitié-Salpêtrière Hospital, were retrospectively analyzed focusing on muscular phenotype, cardiac, and respiratory assessment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>RYR1<i>-</i>related CMyo was the most represented entity (<i>N</i> = 65, 45%), followed by DNM2-related CMyo (<i>N</i> = 26, 18%). Eighty-two percent of patients presented with a prenatal, infancy or childhood onset, including delayed motor milestones. An adult onset, defined as > 18 years (median age 43 years), was identified in 15% of patients (<i>N</i> = 18). Fifteen percent of patients were wheelchair-bound. The poorest respiratory outcome was found in SELENON-related CMyo patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This observational study provides long-term data on disease progression in CMyo. Adult CMyo patients generally presented mild motor disability at follow-up. Nevertheless, a subset of patients experienced loss of gait and severe respiratory failure. CMyo should be considered in the differential diagnosis of adult-onset myopathies due to the rare but possible late-onset forms.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 4","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70109","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143741032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Onur Dereli, Jochen Behringer, Achim Berthele, Alexander Hapfelmeier, Bernhard Hemmer, Christiane Gasperi
{"title":"Insights Into Disability and Disability Progression in People With Multiple Sclerosis Using Large-Scale Healthcare Data","authors":"Onur Dereli, Jochen Behringer, Achim Berthele, Alexander Hapfelmeier, Bernhard Hemmer, Christiane Gasperi","doi":"10.1111/ene.70124","DOIUrl":"https://doi.org/10.1111/ene.70124","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Identifying predictors for disability progression is crucial for managing multiple sclerosis (MS). This study aims to explore levels of disability and informative factors for disability progression in people with MS (PwMS) using healthcare data without detailed clinical information.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a case–control/cohort study on data from Bavaria's largest health insurance organization. The dataset included records of assistive devices, nursing care, sick leaves, rehabilitation, drug therapies, and diagnoses for individuals with MS, Crohn's disease (CD), rheumatoid arthritis (RA), and controls (CTR) without these diseases. We used generalized linear models to compare healthcare service utilization between MS and other cohorts. A gradient-boosting algorithm identified informative healthcare-related factors associated with disability progression in PwMS, defined by increased nursing care utilization.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>PwMS (<i>N</i> = 11,961) demonstrated higher healthcare utilization than CD (<i>N</i> = 21,884), RA (<i>N</i> = 105,450), and CTR (<i>N</i> = 82,677) groups, even at young ages. Besides expected risk factors like age, smoking, diabetes, and psychiatric disorders, the prediction algorithm revealed that PwMS with specific gynecological disorders, upper tract infections, asthma, and thyroiditis were less likely to need higher levels of nursing care.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Leveraging healthcare data allows for an objective assessment of disability in PwMS and can identify informative factors for disability progression. Our approach can be applied to studies on disease progression in large cohorts without detailed clinical data and can be adapted to other diseases, disability measures, and healthcare systems. Higher utilization of healthcare resources even at young ages revealed an unmet need for improved treatment and management strategies for young adults with MS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 4","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70124","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143741030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Victor Hvingelby, Eirini Tsigka, Rigmor Hoejland Jensen, Sofia Hylin, Tiit Mathiesen
{"title":"Natural Progression of Pineal Cysts in Relation to Headache: A Prospective Observational Study","authors":"Victor Hvingelby, Eirini Tsigka, Rigmor Hoejland Jensen, Sofia Hylin, Tiit Mathiesen","doi":"10.1111/ene.70120","DOIUrl":"https://doi.org/10.1111/ene.70120","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Pineal cysts are a frequent, potentially incidental finding in routine imaging studies. Their relationship with headache has been a matter of some controversy. In this prospective observational study, we sought to track the clinical and radiological trajectory of pineal cysts in both patients with and without concurrent headache.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A cohort study was conducted in patients referred to the Department of Neurosurgery at Karolinska Hospital for evaluation of a pineal cyst ≥ 5 mm between June 2005 and April 2017. Patients were stratified according to headache status and classified according to standard criteria. Development in cyst size and degree of aqueduct stenosis, as well as clinical progression of headache, was tracked.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>157 cysts were identified (50 males and 107 females, mean age: 37 years), 103 of which were in patients primarily assessed for headaches. Cyst size remained stable over the follow-up period. There was no relationship between cyst size, the presence or progression of headache, nor with amenability to treatment. No relationship between the mass effect of the quadrigeminal plate and headache was observed. Of 13 patients treated with melatonin, 7 (53%) reported a subsequent decrease in headache severity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>A major proportion of seemingly incidental pineal cysts referred for neurosurgical evaluation were detected during work-up for headache. Furthermore, the size and symptoms associated with cysts remain stable over time, barring intervention. The therapeutic implications and relationship with other factors such as melatonin remain to be explored.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 3","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70120","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143690203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Omid Shirvani, Patricia Fischbein, Zeynep Bendella, Piergiorgio Profico, Franziska Dorn, Gabor C. Petzold, Sebastian Stösser
{"title":"Aetiology of Acute Respiratory Insufficiency in Patients With Ischaemic Stroke Studied by Chest CT Scan","authors":"Omid Shirvani, Patricia Fischbein, Zeynep Bendella, Piergiorgio Profico, Franziska Dorn, Gabor C. Petzold, Sebastian Stösser","doi":"10.1111/ene.70125","DOIUrl":"https://doi.org/10.1111/ene.70125","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Acute respiratory insufficiency (ARI) is considered a serious life-threatening complication after ischaemic stroke. The aim of this study was to identify the most common aetiologies of ARI after stroke and their association with patients' outcome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective study was conducted at the University Hospital Bonn, involving patients with acute ischaemic stroke who underwent chest CT scans for ARI between 2017 and 2022. We collected clinical and demographic data, laboratory parameters, vital signs, as well as outcome parameters. CT scans were reviewed by a radiologist. The dataset was analysed to identify the most frequent aetiologies and their associations to outcome parameters.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 236 patients with a median age of 75 years and a median NIHSS score of 11. In-hospital mortality accounted for 30.5%. The most frequent pulmonary conditions on CT, in order of prevalence, included bronchitis/bronchiolitis (66.1%), atelectasis (66.1%), pleural effusion (60.6%), pneumonia (53%), pulmonary oedema (37.3%), and pulmonary artery embolism (27.5%). Bronchitis/bronchiolitis was an independent risk factor for mortality (OR = 3.17, 95% CI: 1.11–8.79, <i>p</i> = 0.03). A higher number of pulmonary conditions decreased the likelihood of discharge to home, and non-survivors had worse vital/laboratory parameters.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We identified six key pulmonary aetiologies of ARI after ischaemic stroke, with bronchitis/bronchiolitis notably linked to in-hospital mortality in our study cohort. An increased number of these acute pulmonary conditions decreased the likelihood of discharge to home. Early chest CT/CT-angiography may help to identify patients at high risk for in-hospital mortality and to initiate appropriate treatment early.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 3","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70125","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143690202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}