European Journal of Neurology最新文献

{"title":"Screening Value of the I-Douleur Neuropathique 4 Questionnaire for Small Fibre Neuropathy in Patients With Painful Syndromes: Insights From 872 Skin Biopsies","authors":"Simon Frachet,&nbsp;Emilie Soust,&nbsp;Laurence Richard,&nbsp;Aurore Danigo,&nbsp;Claire Demiot,&nbsp;Laurent Magy","doi":"10.1111/ene.70499","DOIUrl":"10.1111/ene.70499","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Small-fibre neuropathy (SFN), which is defined by the sole involvement of small sensory fibres, often leads to neuropathic pain. The diagnosis of SFN relies on clinical, neurophysiologic, and morphologic abnormalities. A decrease in intraepidermal nerve fibre density (IENFD) on a skin biopsy specimen is considered useful in the diagnosis of SFN in the appropriate clinical context. The self-administered Douleur Neuropathique 4 (I-DN4) questionnaire, designed to differentiate neuropathic from somatic pain, shows high sensitivity and specificity but has not been specifically investigated with regard to SFN.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective study examined the diagnostic accuracy of I-DN4 for SFN in 872 patients who were systematically assessed at the time of skin biopsy according to local standards of routine care, after excluding central nervous system diseases and other peripheral nerve disorders by careful clinical examination and medical history.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>An I-DN4 score of ≥ 3 had a sensitivity of 93% and a specificity of 18.13% for diagnosing SFN. ROC analysis revealed an AUC of 0.53, indicating no discriminative ability for this condition. There were no correlations between the I-DN4 scores and the adjusted IENFD or proximo-distal IENFD ratio. Only the sensation of burning was a moderate predictor of SFN risk (odds ratio [OR] = 1.65; 95% confidence interval [CI], 1.04–2.68; <i>p</i> = 0.038). Hypoesthesia to pinprick was also associated with a moderate risk of a reduced IENFD at the distal leg (OR = 1.52; 95% CI, 1.03–2.25; <i>p</i> = 0.040).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>I-DN4 is not an effective standalone tool for screening SFN in patients with painful syndromes.</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/PMC12892124/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146156505","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":"The Epilepsy-Desirability of Outcome Ranking (DOOR) as a Multi-Faceted Consumer-Informed Outcome Measure for Epilepsy Clinical Trials","authors":"Lucy Vivash,&nbsp;Hannah Johns,&nbsp;Terence J. O′Brien,&nbsp;Leonid Churilov","doi":"10.1111/ene.70531","DOIUrl":"10.1111/ene.70531","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>New drug trials in drug resistant epilepsy are typically powered to detect changes in seizure frequency as the primary endpoint, without integrating other treatment-associated benefits and harms. We developed Epilepsy-DOOR, a consumer-codesigned outcome measure, which combines seizure frequency with quality of life and adverse event measures. This study evaluated Epilepsy-DOOR in previously completed phase 3 clinical trials of adjunctive brivaracetam in patients with drug resistant epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Epilepsy-DOOR was derived for each participant who completed the randomised controlled trial of three Phase 3 trials of brivaracetam (N01252, N01253, N01254). Win odds were estimated for Epilepsy-DOOR and its individual components: change in seizure frequency, quality of life, and adverse event severity for treatment with brivaracetam over placebo for each dose in each study. Odds ratio was estimated for responder rate.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In N01252, Epilepsy-DOOR demonstrated benefit of 100 mg brivaracetam (Win odds 1.42, 95% CI 1.03, 1.97) but not smaller doses over placebo, in line with the results when using responder rate (odds ratio 1.14, 95% CI 1.02, 1.29). In studies N01253 and N01254, benefit as assessed by Epilepsy-DOOR did not attain statistical significance, despite benefits at some doses when measuring seizure responder rate.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Epilepsy-DOOR showed similar effect sizes but slightly reduced power when compared with responder rate. This reduced power is due to the appropriate reflection of adverse events by Epilepsy-DOOR. Epilepsy-DOOR provides a more holistic measure of anti-seizure medication treatment effects, balancing relative benefits and harms, and has potential as a future endpoint in clinical trials in epilepsy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12888095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146149528","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":"MOGAD in South Wales: Diagnostic Evolution and Disease Epidemiology","authors":"Sophie Voase,&nbsp;Patrick Waters,&nbsp;Stephen Jolles,&nbsp;Gillian Ingram,&nbsp;Owen Pearson,&nbsp;Johann te Water Naudé,&nbsp;Katharine Harding,&nbsp;Mark Woodhall,&nbsp;Ray Wynford-Thomas,&nbsp;Callum Wood,&nbsp;Emma Tallantyre,&nbsp;Neil P. Robertson","doi":"10.1111/ene.70502","DOIUrl":"10.1111/ene.70502","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare antibody-mediated inflammatory demyelinating disorder. In 2023, new international consensus diagnostic criteria were agreed. This study uses these criteria to describe epidemiological features of MOGAD in a population-based cohort of patients from south Wales, UK.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Retrospective review of case notes on all positive MOG-IgG results in South Wales between 01 January 2011 and 30 June 2024 was undertaken, 2023 diagnostic criteria applied and standardised clinical features recorded. Paediatric MOGAD was defined as age at onset &lt; 16 years and adult MOGAD ≥ 16 years. The incidence period was between 01 January 2015 and 31 December 2023.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Seventy-six prevalent cases were identified: 53 adults and 23 children. Minimum estimated prevalence of MOGAD in south Wales on 30 June 2024 was 76/1,974,110 population (3.85/100,000 population; 95% CI 3.03–4.82). Paediatric prevalence was 6.59/100,000 population (95% CI 4.18–9.89) and adult prevalence 3.26/100,000 population (95% CI 2.44–4.27). Sex ratio was almost equal in males and females. The most frequent presentations were optic neuritis in adults (62.3%) and ADEM in children (34.8%); 64.5% had a monophasic disease course over a median follow-up of 38 months (IQR 13–63). Mean annual incidence was 3.39 (95% CI 2.58–4.39) per million population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This regional study provides updated prevalence and incidence rates for MOGAD since the introduction of 2023 diagnostic criteria in a stable south Wales, UK population.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12884131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146141460","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":"Prevalence and Impact of Probable REM Sleep Behavior Disorder in Essential Tremor: A Multicenter Cross-Sectional Study","authors":"Yuzheng Wang,&nbsp;Mingqiang Li,&nbsp;Runcheng He,&nbsp;Xiaomei Duan,&nbsp;Liang Jin,&nbsp;Dong Chang,&nbsp; JuanWan,&nbsp;Meiqi Jiang,&nbsp;Jiayi Wu,&nbsp;Mingshan Cai,&nbsp;Sheng zeng,&nbsp;Mei Yuan,&nbsp;Heng Wu,&nbsp;Chunyu Wang,&nbsp;Guohua Zhao,&nbsp;Qiying Sun,&nbsp;Beisha Tang,&nbsp;the China Essential Tremor Alliance","doi":"10.1111/ene.70516","DOIUrl":"10.1111/ene.70516","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To investigate the prevalence of probable REM sleep behavior disorder (pRBD) in essential tremor (ET), identify associated risk factors, and evaluate its effects on motor and non-motor symptoms.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Clinical data were collected from 1297 ET patients across multicenter. pRBD was assessed using the RBD Questionnaire-Hong Kong (RBDQ-HK). Risk factors associated with pRBD were identified through multivariable logistic regression. Furthermore, a meta-analysis was conducted to synthesize existing estimates of pRBD/RBD prevalence in ET.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In this study, pRBD was identified in 11.6% of ET patients. Meta-analysis yielded pooled prevalence estimates of 16% for pRBD (ES = 0.16, 95% CI [0.10–0.21]) and 14% for RBD (ES = 0.14, 95% CI [0.07–0.21]). ET patients with pRBD were older (59.89 ± 13.99 vs. 54.63 ± 16.59 years, <i>p</i> &lt; 0.001) and had a later tremor onset (47.55 ± 15.98 vs. 43.15 ± 17.62 years, <i>p</i> = 0.007) compared with those without pRBD. ET-pRBD patients also exhibited a higher frequency of midline tremor (54.67% vs. 43.93%, <i>p</i> = 0.003), rest tremor (27.33% vs. 16.04%, <i>p</i> = 0.001), and elevated Non-Motor Symptom Scale (NMSS) scores (20.30 ± 18.50 vs. 10.43 ± 12.42, <i>p</i> &lt; 0.001). Multivariable logistic regression identified lower educational attainment (OR = 0.93, <i>p</i> = 0.002) and higher NMSS scores (OR = 1.03, <i>p</i> &lt; 0.001) as independent risk factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>pRBD is prevalent in ET and independently associated with lower education and increased non-motor symptom burden. Recognition of pRBD may help identify an ET subgroup with distinctive clinical features.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12886745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146149515","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":"Findings on Magnetic Resonance Imaging in Neuroborreliosis—A Nationwide Cohort Study","authors":"Mathilde Ørbæk,&nbsp;Nitesh Shekhrajka,&nbsp;Rosa Maja Møhring Gynthersen,&nbsp;Jacob Bodilsen,&nbsp;Lykke Larsen,&nbsp;Merete Storgaard,&nbsp;Christian Brandt,&nbsp;Lothar Wiese,&nbsp;Birgitte Rønde Hansen,&nbsp;Hans R. Luttichau,&nbsp;Aase Bengaard Andersen,&nbsp;Helene Mens,&nbsp;Henrik Nielsen,&nbsp;Klaus Hansen,&nbsp;Anne-Mette Lebech,&nbsp;The DASGIB Study Group","doi":"10.1111/ene.70500","DOIUrl":"10.1111/ene.70500","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To explore pathological findings on magnetic resonance imaging (MRI) and their diagnostic implications in early-stage neuroborreliosis (NB).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Adult patients from the Danish neuroinfections cohort (DASGIB, 2015–2019) with confirmed NB, symptom duration &lt; 6 months, and MRI performed within 14 days of diagnosis were included. MRIs were retrospectively reinterpreted by an unblinded neuroradiologist.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In 116 patients, 123 MRIs were performed (99 brain, 44 spine, 46 with contrast). White matter lesions (WML) were common, but non-specific and associated with increasing age (<i>p</i> &lt; 0.001). Six patients showed WML not typical for small vessel disease. Acute infarctions occurred in four patients. Encephalitis was clinically diagnosed in five patients; one showed brainstem FLAIR hyperintensities. In 45 contrast-enhanced brain scans, leptomeningeal enhancement was identified in 6 (13%) and cranial nerve enhancement in 29 (64%). There was poor correlation between facial palsy and enhancement. Spinal cord lesions (1.6–14 cm) were identified in 10 of 44 scans (23%) without symptoms of transverse myelitis. Among 13 contrast-enhanced spine scans, 8 showed leptomeningeal enhancement (61%), and 8 showed nerve root enhancement (61%). Most enhancements did not match symptoms.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Pathological findings were found in 35 of 46 patients with contrast-enhanced MRIs. Key findings included cranial nerve, spinal nerve root, and leptomeningeal enhancement—often without clinical correlation. Spinal cord lesions were relatively frequent; cerebral infarction was rare. While key findings can support the diagnosis, their absence does not exclude NB.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12884127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146141413","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":"Persistent Postural-Perceptual Dizziness: A Practical Approach to Diagnosis and Patient Communication","authors":"Hüseyin Nezih Özdemir,&nbsp;Jasmin Charlton,&nbsp;Elvira Cortese,&nbsp;Arianna Di Stadio,&nbsp;David Herdman,&nbsp;Diego Kaski","doi":"10.1111/ene.70494","DOIUrl":"10.1111/ene.70494","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Despite clear diagnostic criteria established in 2017, delivering and explaining the diagnosis of persistent postural-perceptual dizziness (PPPD) can be challenging.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We outline a step-by-step approach to clearly explain the diagnosis, underlying mechanisms and treatment options to patients with PPPD, followed by a brief overview of current treatment approaches. This approach is adapted from the Cambridge-Calgary Consultation Model and previous recommendations for functional neurological disorders but is mainly based on our expertise accrued over decades and input from patients with PPPD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The practical clinical framework for the assessment and management of PPPD includes structured history-taking, bedside examination and patient-centred communication strategies aimed at improving diagnostic confidence and therapeutic engagement.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our experience indicates that the clinical approach used may shape patients' understanding, engagement and overall management trajectory in PPPD. Good communication is essential for the diagnosis and management of this condition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12884132/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146141424","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":"Prevalence and Patterns of Cranial Nerve Involvement in CIDP, Autoimmune Nodopathy, MMN, and Anti-MAG Neuropathy: A Multicenter Korea/UK Study of 582 Patients","authors":"Young Gi Min,&nbsp;Hyunjin Kim,&nbsp;Hee Jo Han,&nbsp;Byeol-A Yoon,&nbsp;Jong Kuk Kim,&nbsp;Woohee Ju,&nbsp;Seok-Jin Choi,&nbsp;Sung-Min Kim,&nbsp;Ki Hoon Kim,&nbsp;Young Nam Kwon,&nbsp;Seung Woo Kim,&nbsp;Eun-Jae Lee,&nbsp;Young-Min Lim,&nbsp;Kabir K. Nazeer,&nbsp;Yusuf A. Rajabally,&nbsp;Ha Young Shin,&nbsp;Jung-Joon Sung","doi":"10.1111/ene.70512","DOIUrl":"10.1111/ene.70512","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Cranial nerve involvement is a well-recognized feature in Guillain–Barré syndrome (GBS) but remains less well understood in chronic forms of autoimmune neuropathies. Earlier studies of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) were conducted before updated diagnostic criteria and the recognition of autoimmune nodopathy (AN), which may limit the interpretation of their findings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively analyzed 582 patients with chronic autoimmune neuropathies—CIDP (<i>n</i> = 431), multifocal motor neuropathy (MMN) (<i>n</i> = 64), anti-myelin-associated glycoprotein (MAG) neuropathy (<i>n</i> = 54), and AN (<i>n</i> = 33)—from 4 Korean and 1 UK centers. Patients with cranial nerve involvement were identified and described. CIDP patients with cranial nerve involvement (cranial+ CIDP) were compared with those without (cranial− CIDP).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Cranial nerve involvement was observed in 8.8% (38/431) of CIDP and 24.2% (8/33) of AN patients but was absent in MMN (0/64) and anti-MAG neuropathy (0/54). Facial palsy was overall the most common manifestation (CIDP: 45%, AN: 50%). Patients with AN more frequently exhibited bilateral optic neuropathy (50%) and facial diplegia (38%), while CIDP patients more often showed trigeminal neuropathy and oculomotor nerve palsy (both 32%). Compared with cranial− CIDP, cranial+ CIDP patients were more often younger, of variant subtypes (especially multifocal), presented (sub)acutely with preceding infection/vaccination, followed by relapsing–remitting rather than progressive courses, and achieved greater improvement despite greater pre-treatment disability.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Cranial nerve involvement serves as a diagnostic clue in chronic autoimmune neuropathies, particularly in identifying AN and CIDP. Cranial+ CIDP appears to represent a distinct subset with partial overlap to GBS, suggesting unique underlying mechanisms.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12884130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146141453","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":"The PERISCOPE Cohort: A Retrospective Study of Clinicopathological and TRAF7 Genetic Findings in Intraneural Perineurioma","authors":"Eduardo Boiteux Uchôa Cavalcanti,&nbsp;Alessandra de La Rocque Ferreira,&nbsp;Nilo Sakai Júnior,&nbsp;Francineide Sadala de Souza,&nbsp;Heveline Becker de Moura,&nbsp;Eni Braga Da Silveira,&nbsp;Graciela Maria Barbosa Lacerda Martins,&nbsp;Marcio de Mendonça Cardoso","doi":"10.1111/ene.70519","DOIUrl":"10.1111/ene.70519","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Intraneural perineurioma (INP) is a rare, benign peripheral nerve sheath tumour that typically presents in adolescence or early adulthood as a slowly progressive, motor-predominant mononeuropathy or plexopathy. Although its clinicoradiological and histopathological features are well characterised, the genetic basis remains incompletely defined.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively analysed 10 patients with histologically confirmed INP diagnosed between February 2015 and December 2024. Demographic and clinical data, MRI/MR neurography findings and histopathology (immunohistochemistry and electron microscopy) were analysed. Targeted Sanger sequencing of TRAF7 exons 17–18 (WD40 domain) was performed. Interphase FISH with an EWSR1 (22q12) probe was performed on archival FFPE tissue in a subset.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>All patients exhibited progressive motor deficits, with at least one muscle group graded ≤ 2 on the MRC scale. Sensory symptoms were present in 8/10 and pain in 4/10. MRI demonstrated fusiform nerve enlargement and homogeneous gadolinium enhancement in all cases, with T2 hyperintensity in 9/10. A pathogenic <i>TRAF7</i> p.His521Arg variant was identified in 2/9 evaluable tumours (22.2%). Tendon transfer was performed in 7/10 patients as a reconstructive strategy to improve motor function, resulting in heterogeneous functional outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The MRI triad of fusiform enlargement, T2 hyperintensity and homogeneous enhancement strongly supports INP diagnosis and may obviate biopsy in typical cases. Our hotspot-limited assay detected <i>TRAF7</i> mutations in only 22.2%, underscoring methodological limitations and probable genetic heterogeneity. Despite an indolent imaging appearance, INP frequently causes severe functional impairment requiring reconstructive surgery. Early recognition, structured functional monitoring and risk-adapted intervention are essential to optimise outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12884198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146141385","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":"Vascular Comorbidities and an Increased Comorbidity Score Are Associated With Disability and Disability Progression in Secondary Progressive Multiple Sclerosis","authors":"Nevin A. John,&nbsp;Yingtong Li,&nbsp;Floriana De Angelis,&nbsp;Ferran Prados Carrasco,&nbsp;Jon Stutters,&nbsp;Anisha Doshi,&nbsp;Alberto Calvi,&nbsp;Domenico Plantone,&nbsp;Thomas Williams,&nbsp;Thanh Phan,&nbsp;Jeremy Chataway,&nbsp;for the MS-SMART Investigators","doi":"10.1111/ene.70517","DOIUrl":"10.1111/ene.70517","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Vascular risk factors are associated with increased disease activity and disability progression in multiple sclerosis (MS). This has been studied mainly in cohorts with relapsing–remitting MS. However, the association between vascular comorbidities (VCM) and clinical disability in secondary progressive MS (SPMS) is less well studied. Our aim was to investigate the association between VCM, non-VCM, comorbidity burden and both physical and cognitive performance in SPMS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Longitudinal analysis of 445 patients from the MS secondary progressive multi-arm trial (MS-SMART)–a multi-arm multicentre phase-2b randomised placebo-controlled trial of three agents in SPMS (NCT01910259). VCM (hypertension and hyperlipidaemia) and non-VCM (asthma, hypothyroidism and osteoporosis) were recorded. A comorbidity score was also determined (0, 1, ≥ 2). Physical disability and processing speed were assessed at baseline, 48- and 96 weeks. Multiple linear regression and mixed models were used to investigate the cross-sectional and longitudinal relationships between baseline VCM, non-VCM, comorbidity score and clinical outcome measures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The cohort was predominantly female (67%), median Expanded Disability Status Scale (EDSS) 6.0. 13% and 9% had hypertension and hyperlipidaemia (VCM), respectively. 7%, 9% and 5% had asthma, hypothyroidism and osteoporosis (non-VCM), respectively. Co-morbidity counts were 0,63%; 1, 23% and with &gt; = 2, 11%. In cross-sectional models, both hypertension (<i>β</i> = 0.36, 95% CI 0.18–0.54) and an increased comorbidity count (<i>β</i> = 0.47, 95% CI 0.28–0.67) were associated with higher EDSS scores. In longitudinal models, hyperlipidaemia (<i>β</i> = 0.22, 95% CI 0.02–0.42) and increased comorbidity count (<i>β</i> = 0.21, 95% CI 0.01–0.41) were associated with increased EDSS scores over 48/96 weeks. No associations were seen with the non-VCM.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>VCM and also increased comorbidity burden per se are associated with increased disability. Disability worsening over 96 weeks was most evident in those with hyperlipidaemia and increased comorbidity burden.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12886752/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146149512","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":"Age, Low Immunoglobulin G, and M Serum Levels Predict Infections in People With AQP4-IgG+ NMOSD Treated With Rituximab—A Multicenter Cohort Study From the German Neuromyelitis Optica Study Group (NEMOS)","authors":"Daniel Engels,&nbsp;Mariella Herfurth,&nbsp;Joachim Havla,&nbsp;Patrick Schindler,&nbsp;Klemens Ruprecht,&nbsp;Carolin Schwake,&nbsp;Marius Ringelstein,&nbsp;Katinka Fischer,&nbsp;Charlotte Schubert,&nbsp;Insa Schiffmann,&nbsp;Martin W. Hümmert,&nbsp;Katrin Giglhuber,&nbsp;Sven Jarius,&nbsp;Ioannis Vardakas,&nbsp;Matthias Grothe,&nbsp;Thorleif Etgen,&nbsp;Clemens Warnke,&nbsp;Jasmin Naumann,&nbsp;Frank Hoffmann,&nbsp;Makbule Senel,&nbsp;Brigitte Wildemann,&nbsp;Achim Berthele,&nbsp;Corinna Trebst,&nbsp;Vivien Häußler,&nbsp;Orhan Aktas,&nbsp;Ilya Ayzenberg,&nbsp;Judith Bellmann-Strobl,&nbsp;Florian Then Bergh,&nbsp;Tania Kümpfel,&nbsp;Neuromyelitis Optica Study Group (NEMOS)","doi":"10.1111/ene.70520","DOIUrl":"10.1111/ene.70520","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Rituximab is effective and widely used as long-term treatment in aquaporin-4-IgG-positive neuromyelitis optica spectrum disorder (AQP4-IgG+ NMOSD). However, infections remain a significant concern during rituximab treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a retrospective multicenter cohort study within the NMO Study Group (NEMOS) in Germany, analyzing demographic and clinical data from people with AQP4-IgG+ NMOSD receiving rituximab or azathioprine by retrospective chart, and compared infection occurrence and severity. For rituximab-treated patients, we collected laboratory data (blood lymphocytes, B-cell counts, serum IgG, IgM, and IgA levels), assessed risk factors for infections, and determined the probability of infection within a 3-month window before and after the laboratory assessment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In 92/170 rituximab and in 12/33 azathioprine treatment episodes, one or more infections were documented. Rituximab and azathioprine showed comparable types and risk of infection (HR = 1.24, 95% CI: 0.68–2.25). Rituximab-treated individuals older than 60 years had a higher risk of infection (HR = 1.62, 95% CI: 1.02–2.57). Hypogammaglobulinemia (IgG &lt; 6.0 g/L: OR = 2.27, 95% CI: 1.15–4.48; IgM &lt; 0.3 g/L: OR = 2.08, 95% CI: 1.05–4.09) predicted infections and the occurrence of both low IgG and IgM serum levels further increased the risk of infection (OR = 2.77, 95% CI: 1.10–6.98) during rituximab treatment. Low IgG and IgA serum levels as well as lymphopenia predicted infection-related hospitalizations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Age &gt; 60 years and immunoglobulin serum levels during rituximab treatment may serve as predictors for infection and help to individualize treatment decisions in NMOSD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"33 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12871897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146117472","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}