European Journal of Neurology最新文献

{"title":"Chronic Ataxic Neuropathy With Disialosyl Antibodies Responsive to Zanubrutinib","authors":"Benedetta Tierro,&nbsp;Andrea Visentin,&nbsp;Alessandro Salvalaggio,&nbsp;Gabriella Cacchiò,&nbsp;Nicolò Danesin,&nbsp;Susanna Ruggero,&nbsp;Francesco Logullo,&nbsp;Chiara Briani","doi":"10.1111/ene.70521","DOIUrl":"10.1111/ene.70521","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To describe a patient with chronic ataxic neuropathy with disialosyl antibodies (CANDA) with clinical and neurophysiological improvement after zanubrutinib therapy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A 62-year-old man started complaining of sensory symptoms in his hands and feet extending over time to the knees and elbows. Nerve conduction studies were consistent with diffuse sensory axonal ganglionopathy. Blood tests revealed an IgM 𝜆 paraprotein expression of Waldenström's macroglobulinemia. Anti-MAG and anti-neuronal antibodies were negative. Anti-ganglioside IgM antibodies (GD1b; GD2, GD3, GT1a, GT1b, GQ1b) were positive. Neurological examination disclosed pinprick and tactile hypoesthesia with stocking-glove distribution. The patient was responsive to intravenous immunoglobulin (IVIg) but reported end-dose fluctuations. Rituximab was started but soon discontinued for clinical worsening, so IVIg therapy was resumed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The patient was started on zanubrutinib, a second generation Bruton's tyrosine kinase (BTK) inhibitor, while continuing IVIg with global improvement and absence of end of dose efficacy. After 15 months, besides a clinical and hematological amelioration, a dramatic neurophysiological improvement also occurred. Antibodies to IgM GM1 and GM2 were not detectable, whereas anti-disialosyl antibodies GD1a and GD1b persisted unchanged.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>To the best of our knowledge, this is the first patient with Waldenström-associated CANDA with clinical, hematological, and neurophysiological benefit after zanubrutinib therapy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12930296/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147283129","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":"Myasthenia Gravis With Acetylcholine Receptor Antibodies in the Very Old: Treatment Challenges and Diagnostic Pitfalls","authors":"Nils Erik Gilhus","doi":"10.1111/ene.70534","DOIUrl":"10.1111/ene.70534","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>In myasthenia gravis (MG) with acetylcholine receptor (AChR) antibodies, epidemiology, disease mechanisms, diagnosis, and treatment depend on age. MG with debut after 65 years has an increasing incidence and prevalence but is underrepresented in clinical studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This is a systematic review of very late onset MG and MG in patients above 65 years with focus on epidemiology, pathogenesis, diagnosis, clinical characteristics, and treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Both innate and adaptive immune responses are influenced by age. The increase in MG incidence in the very old is probably caused by unknown environmental factors. Both patients' and doctors' diagnostic delays are substantial for very late onset MG. Comorbidities are frequent and can lead to misdiagnosis. MG needs to be considered as a potential diagnosis in all elderly patients with newly localized or generalized muscle weakness. AChR antibodies have near 100% diagnostic specificity and 80% sensitivity in this age group. Very late onset MG is often mild and with an excellent response to pyridostigmine and first-line immunosuppressive therapy. One in five has a debut with life-threatening respiratory insufficiency. Rituximab, complement inhibitors, and FcRn blockers can be used on the same indications as for younger MG patients. MG in the very old is a fluctuating disease with the need of frequent adjustments of drug therapy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Very late onset MG and MG in the very old should be treated actively with symptomatic and immunosuppressive drugs, physical activity programs, and general support. The treatment aim should be pharmacological remission or minimal manifestations only.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12928106/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146257755","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":"Infective Endocarditis—Impact of Preoperative Neurological Complications on Postoperative Outcome","authors":"George Awad,&nbsp;Bahar Wakeli,&nbsp;Sam Varghese,&nbsp;Boris Kuzmin,&nbsp;Anke Lux,&nbsp;Priya Veluswamy,&nbsp;Mohammad Fadel,&nbsp;Jens Wippermann,&nbsp;Maximilian Philipp Scherner,&nbsp;Max Wacker","doi":"10.1111/ene.70539","DOIUrl":"10.1111/ene.70539","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>Treating infective endocarditis (IE) complicated by neurological events remains challenging and often requires case-by-case decisions. Identifying predictors of postoperative complications is key to effective risk assessment and management.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 191 patients who underwent cardiac surgery for IE were analyzed. Patients were grouped based on the presence or absence of preoperative neurological events (ischemic stroke, TIA, or intracerebral hemorrhage). Univariate and multivariate logistic regression analyses were used to identify predictors of postoperative neurological complications.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Patients with preoperative neurological events underwent surgery later (33 ± 25 vs. 23 ± 23 days, <i>p</i> = 0.022), had larger vegetations (1.27 ± 1.88 vs. 0.68 ± 1.08 cm², <i>p</i> = 0.029), and more extracranial embolism (55% vs. 10%, <i>p</i> &lt; 0.001). Patients with prior neurological complications developed more new cerebral embolic events (65% vs. 3.3%, <i>p</i> &lt; 0.001), intracerebral bleeding (20% vs. 1.3%, <i>p</i> &lt; 0.001), required longer ventilation (64 ± 89 vs. 59 ± 136 h, <i>p</i> = 0.013), and were more frequently discharged to neurological rehabilitation (26% vs. 9%, <i>p</i> = 0.008). Preexisting stroke or bleeding significantly increased the risk of cerebral embolism (OR 133.7), prolonged ventilation (OR 2.56), intracerebral bleeding (OR 420), and discharge to neurological rehabilitation (OR 4.71). Independent predictors of new postoperative neurological events were preoperative TIA (OR 19.45), cerebral embolism (OR 10.59), and leukocytosis (OR 8.36). Thirty-day mortality did not differ between groups (8.3% vs. 7.5%, <i>p</i> = 1.0).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Patients with preoperative neurological complications remain at high risk for neurological deterioration in the postoperative course.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12920689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146226066","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":"Real-World Use of Cenobamate in Paediatric Drug-Resistant Epilepsy: Long-Term Efficacy, Safety, and Co-Medication Adjustment","authors":"Tiziana Pisano,&nbsp;Simona Balestrini,&nbsp;Alessandra Boncristiano,&nbsp;Saverio Caini,&nbsp;Martina Lombardini,&nbsp;Erica Scuma,&nbsp;Mara Cavallin,&nbsp;Luca Bartolini,&nbsp;Simona Pellacani,&nbsp;Carmen Barba,&nbsp;Renzo Guerrini","doi":"10.1111/ene.70530","DOIUrl":"10.1111/ene.70530","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>We evaluated the real-world efficacy, tolerability, treatment retention, and quality-of-life effects of cenobamate in paediatric drug-resistant epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively studied 78 paediatric patients with drug-resistant epilepsy treated with cenobamate for ≥ 3 months at a tertiary epilepsy centre. We assessed seizure frequency, adverse effects, cognitive/behavioural outcomes, and changes in concomitant antiseizure medications. The primary efficacy endpoint was a ≥ 50% reduction in seizure frequency. We assessed safety through reported adverse events and clinical improvement using the Clinical Global Impression–Improvement (CGI-I) scale. We used Kaplan–Meier analyses to assess responder rates and treatment retention over 18 months.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A ≥ 50% seizure reduction was achieved in 67.9% of patients including 6.4% who became seizure-free. Polytherapy was simplified in 38% overall and in 56.6% of responders. Adverse events occurred in 43.6% of patients, were mostly mild, and led to discontinuation in only one patient (1.3%). CGI-I indicated clinical improvement in 24.4%. Kaplan–Meier analysis showed sustained response in 93% of initial responders at 18 months. Treatment retention remained high: 94.7% at 3 months, 89.6% at 12 months, and 86.8% at 18 months. Median follow-up was 12 months (range 3–18), with 60.3% followed for ≥ 12 months and 41% for the full 18 months.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our study confirms and extends recent evidence on the efficacy and favourable tolerability of cenobamate in paediatric drug-resistant epilepsy. We observed functional improvements and polytherapy simplification, suggesting broader therapeutic benefits. These findings warrant prospective validation in specific paediatric epilepsy syndromes and may help support regulatory approval for paediatric use.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12914351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146212437","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":"Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview","authors":"Matteo Palermo,&nbsp;Carmelo Lucio Sturiale","doi":"10.1111/ene.70523","DOIUrl":"10.1111/ene.70523","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder marked by mucocutaneous telangiectasias, recurrent epistaxis, and visceral arteriovenous malformations (AVMs). Neurologic risks include brain AVMs and hemorrhagic stroke. Several rare genetic and sporadic syndromes (“HHT-like” syndromes) share overlapping vascular features, complicating diagnosis. Differentiating these conditions is essential for accurate neurovascular risk assessment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A comprehensive literature review (PubMed, Scopus, Embase, Google Scholar; 1990–2025) targeted cerebrovascular manifestations of HHT and related syndromes. Key entities included Wyburn–Mason syndrome, Cobb syndrome, Klippel–Trénaunay syndrome (KTS), neurofibromatosis type 1 (NF1), PHACE(S) syndrome, capillary malformation–AVM (CM-AVM), Parkes Weber syndrome (PWS), juvenile polyposis/HHT overlap (JP-HHT), HHT type 5 (BMP9/GDF2), PTEN hamartoma tumor syndrome (PHTS), and blue rubber bleb nevus syndrome (BRBNS). Data on gene variants, lesion types, neuroimaging, stroke risk, and neurologic outcomes were synthesized.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>High-flow cerebrovascular malformations similar to HHT are prominent in Wyburn–Mason syndrome, CM-AVM, and PWS, conferring a substantial hemorrhagic stroke risk. NF1 and PHACE(S) primarily feature occlusive arteriopathies linked to ischemic events. KTS, BRBNS, and PHTS predominantly show low- or mixed-flow anomalies with lower CNS hemorrhagic risk but increased thrombotic complications. JP-HHT carries added gastrointestinal cancer risk via SMAD4 variants, while HHT type 5 often presents incompletely. Genetic testing and tailored neuroimaging are critical for differentiation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Although many syndromes mimic HHT, few combine mucosal telangiectasias, high-flow AVMs, and recurrent hemorrhage. Integrating clinical, imaging, and genetic data enables precise diagnosis, risk stratification, and personalized management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12914224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146212403","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":"First-Generation TTR Silencing Therapies in Hereditary Transthyretin Amyloidosis With Polyneuropathy: Real-World Insights From a German Single-Referral Center","authors":"Marilin S. Koch,&nbsp;Fabian aus dem Siepen,&nbsp;Ute Hegenbart,&nbsp;Stefan Schönland,&nbsp;Markus Weiler","doi":"10.1111/ene.70529","DOIUrl":"10.1111/ene.70529","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hereditary transthyretin (ATTRv) amyloidosis is a rare, genetically heterogeneous disease leading to an unstable configuration of transthyretin (TTR) and hence irregular deposition of TTR amyloid fibrils. The disease predominantly affects the peripheral nervous system, resulting in a progressive sensorimotor polyneuropathy (ATTRv-PN), but can also involve the cardiac and other organ systems. The <i>TTR</i> mRNA silencers patisiran and inotersen effectively reduce serum TTR levels, thereby improving neurologic disability and quality of life in patients with ATTRv-PN. This real-world study investigated long-term efficacy and tolerability of both compounds in patients with ATTRv-PN.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective study from a German single-referral center assessed the effects of treatment with patisiran or inotersen on clinical parameters of 35 patients with ATTRv-PN treated at the Amyloidosis Center of Heidelberg University Hospital for up to 6 years after therapy start. The study included analyses of serum TTR levels, NT-proBNP, creatinine and modified body mass index (mBMI), and reported side effects throughout the observational period.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Both silencers stably reduced serum TTR levels by 81.1% (<i>p</i> = 0.0039, patisiran) and 82.8% (<i>p</i> = 0.0039, inotersen), respectively, after 8 to 15 months compared to mean baseline. NT-proBNP, creatinine, and mBMI values remained stable during treatment. With patisiran, a lower rate of reported adverse effects was observed. Grade 1 thrombocytopenia was reported primarily for inotersen-treated patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings confirm long-term treatment with <i>TTR</i> silencers in a real-world setting is safe, consistently reducing serum TTR levels, stabilizing neurologic symptoms, cardiac and renal functions, and nutritional parameters.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70529","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147288418","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":"Over-Representation of TTN Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy","authors":"Maria Francesca Di Feo,&nbsp;Giuliana Capece,&nbsp;Marco Savarese,&nbsp;Bjarne Udd,&nbsp;Manu Jokela,&nbsp;Johanna Palmio","doi":"10.1111/ene.70537","DOIUrl":"10.1111/ene.70537","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Axial myopathies present with late onset selective paravertebral weakness causing bent spine/camptocormia or dropped head, and the genetic basis remains currently only partially understood. Truncating variants in <i>TTN</i> (TTNtv) are found in about 1% of the general population and, when biallelic, cause recessive titinopathies. Also, TTNtv located in cardiac exons are known to confer an increased risk of cardiomyopathy, with incomplete penetrance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively analyzed 55 Finnish adults with late-onset axial myopathy evaluated at the Tampere Neuromuscular Center (2015–2025). Clinical, imaging, and histopathological data were collected, and genetic testing was performed using the MYOcap targeted next-generation sequencing panel.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Heterozygous TTNtv were identified in 9 of 55 patients (16%), representing a significant enrichment compared with the general population (odds ratio = 14.1; <i>p</i> ≈5 × 10⁻⁸). The variants were ultra-rare, distributed across different exons expressed in skeletal muscle, and five were absent from gnomAD. Mean age at onset was 60 ± 11 years; six patients were female, and five reported a positive family history. Camptocormia was the main presentation, with muscle MRI showing a consistent fatty-fibrous replacement of paravertebral muscles in all cases. Muscle biopsies revealed either myopathic or myofibrillar changes without a uniform pattern.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Heterozygous TTNtv are significantly enriched in patients with late-onset axial myopathy, suggesting a potential contribution to this phenotype. These findings broaden the clinical spectrum of titin-related diseases and support inclusion of <i>TTN</i> in genetic testing for idiopathic axial myopathies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12911116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146212454","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":"Epidemiology and Economic Burden of Sleep Disorders in Europe","authors":"Claudio L. A. Bassetti,&nbsp;Luisa S. Welter,&nbsp;Mateo Montes-Martinez,&nbsp;Nikolai Mühlberger,&nbsp;Paul Boon,&nbsp;Thomas Berger,&nbsp;Günther Deuschl,&nbsp;Marjan Arvandi,&nbsp;Maria Konti,&nbsp;Maria Lolich,&nbsp;Evelina Pajediene,&nbsp;Rolf Fronczek,&nbsp;Elena Moro,&nbsp;Uwe Siebert,&nbsp;Richard Dodel","doi":"10.1111/ene.70463","DOIUrl":"10.1111/ene.70463","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Sleep and sleep disorders (SD) have a major impact on brain (neurological and psychiatric), body and societal health. Despite this, the epidemiological and economic burden of SD have not been sufficiently analyzed. This study investigates the epidemiology and costs of SD across 47 European countries and identifies knowledge gaps in the literature.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Systematic literature reviews on PubMed (between January 2010 and April 2023) and expert communications identified relevant epidemiological and cost-of-illness (COI) studies on five major SD: insomnia, obstructive sleep apnea (OSA), narcolepsy, restless legs syndrome (RLS), and REM sleep behavior disorder (RBD). Four epidemiological parameters, including prevalence, were investigated. Economic analyses stratified direct, indirect, and informal care costs, and employed an imputation procedure that accounts for several country-specific economic factors. Costs were expressed as purchasing power parity (PPP)-adjusted 2019 Euros.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Eleven COI and six epidemiological studies were identified. Estimated prevalence for OSA, insomnia, RLS, narcolepsy, and RBD in the adult population was 18%, 10%, 3%, 0.03%, and 0.009%, respectively. Economic data were exclusively available for high-income Europe. OSA was the most costly SD (€184 billion), followed by insomnia (€158 billion), RLS (€79 billion), narcolepsy (€905 million), and RBD (€436 million). Direct and indirect costs contributed 48% and 52%, respectively, with no available data on informal care costs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The unexpected high prevalence and substantial economic burden associated with SD contrast with the universally neglected role of sleep health and SD in public health strategies. More research on the burden of SD is needed.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12905625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146194332","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":"Biomarkers of Cardioembolic Stroke in Thrombus Composition: Diagnostic Value of DNA and Fibrin Content","authors":"Jéromine Fasille,&nbsp;Mialitiana Solo Nomenjanahary,&nbsp;Dorothée Faille,&nbsp;Capucine Habay,&nbsp;Laurine Bedoucha,&nbsp;Maeva Kyheng,&nbsp;Julien Labreuche,&nbsp;Arturo Consoli,&nbsp;Bertrand Lapergue,&nbsp;Michel Piotin,&nbsp;Raphael Blanc,&nbsp;Benoit Ho-Tin-Noé,&nbsp;Mikael Mazighi,&nbsp;Jean Philippe Desilles,&nbsp;Lucas Di Meglio,&nbsp;the Compo CLOT Study Group","doi":"10.1111/ene.70484","DOIUrl":"10.1111/ene.70484","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>Cryptogenic strokes, accounting for 25%–40% of ischemic strokes, represent a major challenge in secondary prevention due to their uncertain etiology and high recurrence risk. Identifying biomarkers to reliably distinguish cardioembolic (CE) strokes among embolic strokes of undetermined source (ESUS) could help guide therapeutic decisions. Previous studies have indicated thrombus DNA content as a potential biomarker of CE stroke etiology, but direct quantification of fibrin, another key component, has not been adequately explored.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed thrombi collected from 186 ischemic stroke patients undergoing endovascular treatment between 2019 and 2023. Thrombi were processed using a quantitative method based on ex vivo tPA-mediated fibrinolysis followed by mechanical homogenization. Stroke etiology was classified according to TOAST criteria: 40% cardioembolic, 24% non-cardioembolic (large artery atherosclerosis or dissection), and 36% ESUS. Biomarker content was correlated with stroke etiology, and the diagnostic performance of DNA and fibrin (D-dimer) content was evaluated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Cardioembolic thrombi contained significantly higher levels of DNA (median [IQR]: 325.3 [177–484] ng/mg) and D-dimer (17.5 [9.1–23.8] μg/mg) compared to non-cardioembolic thrombi (DNA: 128 [76.4–263] ng/mg; D-dimer: 11.4 [6.8–13.2] μg/mg), with no significant differences observed in heme or GPVI content. The combined use of thrombus DNA and fibrin (D-dimer) content provided good discrimination between CE and non-CE thrombi, with an area under the ROC curve of 0.79 (95% CI, 0.70–0.87).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>DNA and fibrin content in thrombi are promising biomarkers for identifying cardioembolic stroke etiology. Prospective studies should evaluate their use in selecting ESUS patients who may benefit from anticoagulant therapy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12892118/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146156495","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":"Associated Autoimmunity in Myasthenia Gravis in Denmark: A Nationwide Case–Control Study","authors":"Josefine Jul Jarbæk Nielsen,&nbsp;Lotte Sahin Levison,&nbsp;Henning Andersen","doi":"10.1111/ene.70498","DOIUrl":"10.1111/ene.70498","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Myasthenia gravis (MG) is an autoantibody-mediated neuromuscular disease often co-occurring with other autoimmune diseases (ADs). We aimed to determine the temporal relationship between other ADs and MG.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a nationwide, population-based case–control study of MG patients and 10 age-, sex-, and index date-matched controls from 1985 to 2020. We used conditional logistic regression to estimate odds ratios (ORs) for AD diagnoses preceding MG, and Cox regression to calculate hazard ratios (HRs) for ADs succeeding MG. Analyses were stratified by sex, age group (≤ 50 and &gt; 50 years), baseline comorbidity, and time intervals (0–5 and 5–10 years) before and after MG.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our study population included 2110 MG cases (1060 females) and 21,100 matched controls, with 27.4% ≤ 50 years old. Before the index date, 5.2% of MG patients and 2.7% of controls were diagnosed with another AD, yielding an OR of 1.9 (95% CI 1.5–2.3). After MG diagnosis, 5.0% of MG patients and 2.7% of controls received an AD diagnosis (HR 2.1, 95% CI 1.2–2.6), with an overrepresentation of patients ≤ 50 years or younger, females, and patients with a low comorbidity level. Most diagnoses occurred within 5 years before MG onset. The strongest associations were observed for autoimmune thyroiditis, systemic lupus erythematosus, and pernicious anemia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>MG patients are twofold more likely to be diagnosed with another AD, especially MG patients ≤ 50 years and women, suggesting a shared autoimmune predisposition. Understanding the AD spectrum associated with MG could improve diagnostic accuracy and treatment strategies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12892123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146156435","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}