European Journal of Neurology最新文献

{"title":"Abnormal Enhanced Gamma Synchronization in the Default Mode Network Associated With Chronic Pain","authors":"Zhaoshun Jiang,&nbsp;Fei Tao,&nbsp;Feidong Lv,&nbsp;Zhibo Xu,&nbsp;Xiaolei Wang,&nbsp;Yuxi Cai,&nbsp;Xiyu Du,&nbsp;Fafa Sun,&nbsp;Lina Yi,&nbsp;Songbin Liu,&nbsp;Xixue Zhang,&nbsp;Yongjun Zheng,&nbsp;Weidong Gu","doi":"10.1111/ene.70373","DOIUrl":"https://doi.org/10.1111/ene.70373","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Chronic pain is characterized by persistent and often debilitating symptoms, yet its underlying neural mechanisms remain poorly understood. This study investigates alterations in brain oscillations and connectivity in chronic pain patients using electroencephalography (EEG), aiming to identify potential neural signatures of chronic pain.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study analyzed EEG data from 42 chronic pain patients and 42 healthy controls to identify differences in oscillatory activity and network connectivity. Connectivity analyses were corrected for multiple comparisons using network-based statistics. Machine learning techniques were employed to evaluate the potential of these neural signatures as biomarkers for chronic pain.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Chronic pain patients exhibited decreased power in high-frequency bands. Conversely, functional connectivity analysis revealed widespread enhancements in gamma synchronization in chronic pain patients. Dynamic connectivity analysis demonstrated that chronic pain patients had significantly increased gamma synchronization within the default mode network (DMN), particularly in a dominant state characterized by stronger intra-cingulate connections. A machine learning model effectively differentiated patients from controls, achieving robust accuracy of 75.5% ± 6.9%, with sensitivity of 75.3% ± 12.6% and specificity of 80.0% ± 10.5%, primarily driven by the DMN connectivity features. Correlation analysis indicated that the connection between the left posterior cingulate and caudal anterior cingulate within the DMN was positively correlated with pain duration (<i>p</i> = 0.021, <i>r</i> = 0.354).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Enhanced gamma synchronization within the DMN plays a critical role in the pathophysiology of chronic pain. DMN gamma synchronization may serve as a valuable neural marker for chronic pain, providing new insights into its underlying mechanisms.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70373","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145272552","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":"Lifestyle and Occupational Risk Factors in the Development of Motor Neurone Disease","authors":"Nethmi Nuwanji Amarasekera","doi":"10.1111/ene.70377","DOIUrl":"https://doi.org/10.1111/ene.70377","url":null,"abstract":"&lt;p&gt;We read with great interest the recent article by Xiao et al. [&lt;span&gt;1&lt;/span&gt;] investigating the potential association between military service and the risk of developing motor neurone disease (MND). Despite the conflicting evidence in the literature, the authors reported no overall association between military service and MND risk. However, they did identify notable differences in disease characteristics amongst MND patients with a military background compared to those from the general population. The authors suggested that these differences may relate to hazardous working environments and exposure to heavy metals. While certain chemical exposures may elevate MND risk through cumulative neurotoxin accumulation, other occupational factors may also contribute to disease susceptibility.&lt;/p&gt;&lt;p&gt;Many of the study's limitations were addressed by the authors. The most significant was the small sample size: only ten individuals included with both MND and a history of military service. Furthermore, the authors did not report a power calculation, making it difficult to assess whether the study was adequately powered to detect meaningful associations. Their conclusions and the observed differences stated amongst the different groups should be interpreted cautiously. Additionally, the study design represents a relatively low level of evidence, and the restriction to a Swedish population limits the generalisability of its findings. Despite these limitations, the study offers valuable insight into the pathophysiological processes that may contribute to MND.&lt;/p&gt;&lt;p&gt;The relationship between lifestyle factors and MND has been extensively explored. For example, a large Scottish study [&lt;span&gt;2&lt;/span&gt;] attracted significant media attention for demonstrating an increased MND risk amongst military veterans. However, the authors themselves recognised that other lifestyle factors and trauma could have confounded the data. Mendelian randomisation analyses [&lt;span&gt;3&lt;/span&gt;] have provided further insight, with evidence suggesting a causal link between vigorous physical exercise and MND in individuals with a genetic predisposition—a finding replicated in multiple studies. Moreover, a New Zealand case report [&lt;span&gt;4&lt;/span&gt;] found that prior head injuries, participation in endurance sports (with football showing a statistically significant association), and exposure to emotional trauma were each linked to increased MND risk. Given that military service often entails exposure to head injuries, strenuous physical training, and potentially traumatic experiences during deployment, such factors could significantly contribute to the increased risk observed in some veteran populations. Similarly, the literature on occupational exposure to magnetic fields remains inconclusive regarding its effect on MND risk [&lt;span&gt;5&lt;/span&gt;], suggesting that indiivduals in other occupations may also be at higher risk of developing this devastating illness.&lt;/p&gt;&lt;p&gt;The present study, together with pri","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70377","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145272551","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":"Characteristics and Prognosis of Functional Movement Disorders in China: FMD–China Registry Study","authors":"Jin-Tao Wang,&nbsp;Ou-Mei Cheng,&nbsp;Gang Xu,&nbsp;Shun-Liang Xu,&nbsp;Xue-Dong Liu,&nbsp;Sha Ma,&nbsp;Wei Huang,&nbsp;Wei Chen,&nbsp;Xing-Yue Hu,&nbsp;Yi-Ming Liu,&nbsp;Hong Lu,&nbsp;Yu-Kai Wang,&nbsp;Yue-Fei Shen,&nbsp;Xiao-Ling Pan,&nbsp;Qing Huang,&nbsp;Mao-Wen Ba,&nbsp;Han Wang,&nbsp;Yun-Lan Du,&nbsp;Alexander Lehn,&nbsp;Xian-Wen Chen,&nbsp;Gang Wang,&nbsp;China Functional Neurological Disorders Diagnosis and Treatment Alliance","doi":"10.1111/ene.70372","DOIUrl":"https://doi.org/10.1111/ene.70372","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Functional movement disorders (FMDs) are common within functional neurological disorders, yet understudied in Asian populations, particularly in China. Understanding FMDs across diverse cultural and ethnic contexts is crucial for elucidating disease mechanisms and optimizing treatment strategies. This study aimed to characterize FMDs among Chinese Han individuals and identify key prognostic factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We enrolled 119 FMD patients from 22 centers across China. Data collected included demographics, clinical manifestations, neuropsychological assessments, and treatment details. Statistical analyses including ANOVA, chi-square tests, logistic regression, and so on were used to analyze the clinical characteristics and potential prognostic predictors of FMD patients in China.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Patients showed a mean onset age of 45.3 years, female (58.8%), and a possible bimodal age distribution (peaks at 20–30 and ≥ 60 years). Mixed phenotypes (32.8%) and tremor (29.4%) were most common, with high rates of anxiety (61.3%) and depression (53.8%), and 38.7% clinical symptom remission. Physical therapy may be a potential protective factor (OR = 0.077, <i>p</i> &lt; 0.001), while trauma history (OR = 7.863, <i>p</i> = 0.002) and higher baseline CGI scores (OR = 1.933, <i>p</i> = 0.002) predicted poorer outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This first multi-center study of FMDs in China highlights a potential tendency toward a bimodal distribution, female predominance, and abnormal scores on psychiatric scales. Notably, physical therapy represents a potential protective factor, while trauma history may be a risk factor. Our findings identify the clinical profile and prognostic factors of FMDs in the Chinese population, offering valuable insights for clinical practice and future research.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70372","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145272579","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":"Diagnostic Yield of Anti-Neuronal Antibody Testing in Patients Suspected of an Infectious Encephalitis","authors":"Liora ter Horst,&nbsp;Juliette Brenner,&nbsp;Ingeborg E. van Zeggeren,&nbsp;IPACE Study Group,&nbsp;Diederik van de Beek,&nbsp;Maarten J. Titulaer,&nbsp;Matthijs C. Brouwer","doi":"10.1111/ene.70359","DOIUrl":"https://doi.org/10.1111/ene.70359","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Objectives</h3>\u0000 \u0000 <p>Recognition of autoimmune encephalitis (AIE) can be difficult as typical radiological or cerebrospinal fluid abnormalities may be lacking. We investigated the yield of comprehensive diagnostic testing for anti-neuronal antibodies in patients suspected of encephalitis in an acute setting.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In a prospective multicenter cohort, we included patients suspected of encephalitis in whom a lumbar puncture was performed. We retrospectively selected patients from this cohort in whom no infectious cause was identified and an autoimmune CNS disease was considered. Immunohistochemistry was performed on the CSF samples as an index test to screen for anti-neuronal antibodies, and confirmatory cell-based assays were performed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Between 2017 and 2021, 723 episodes were included in 707 patients. The median age was 55 years, and 347 (48%) of the episodes occurred in women. In 59 of 723 episodes (8%), a clinical diagnosis of autoimmune CNS disease was made. Twenty-three (3%) of them fulfilled the diagnostic criteria for possible AIE, and 9 (1%) had antibody-positive AIE (five anti-NMDAR encephalitis, two anti-LGi1 encephalitis, one anti-Ma2 encephalitis and anti-CV2 encephalitis). Extensive antibody testing identified no additional anti-neuronal antibodies in the remaining 47 episodes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>In a cohort of patients with a suspected encephalitis presenting in an acute setting, the incidence of possible AIE was low, and in only one-third of possible AIE episodes an anti-neuronal antibody was detected. Anti-neuronal antibody testing beyond what was done in the clinical setting did not yield additional cases of antibody-positive AIE.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70359","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145272550","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":"Renal Cell Carcinoma With Unknown Primary in the Femur: The Loch Ness Monster?","authors":"Mustafa Güngör Albayrak,&nbsp;Berkay Yalçınkaya,&nbsp;Ahmet Furkan Çolak,&nbsp;Ebrar Yazıcı,&nbsp;Alp Çetin","doi":"10.1111/ene.70371","DOIUrl":"10.1111/ene.70371","url":null,"abstract":"&lt;p&gt;A 57-year-old man presented to our outpatient clinic with progressive difficulty in walking over the last year. He reported weakness in the left lower extremity and difficulty lifting his left leg. His medical history was otherwise unremarkable. In further questioning, he declared that he had a fracture of his left thigh while he was walking 1 year ago. Fifteen days before the fracture, he had been assessed at another hospital's outpatient clinic due to weakness, pain, and swelling in the groin area. At that time, before the fracture, magnetic resonance imaging (MRI) was performed during the assessment to investigate any potential underlying causes. The MRI revealed a soft tissue lesion in the superior part of the thigh, which was located intramedullary, causing endosteal scalloping, thinning of the bone cortex, and cortical destruction in a limited area (Figure 1A). Subsequently, the patient underwent surgery to fix the femoral shaft fracture and remove the lesion. Histopathological examination of the lesion was consistent with metastasis of renal clear cell carcinoma. Positron emission tomography (PET) was performed to locate the primary pathology. A mass with increased fluorodeoxyglucose (FDG) uptake was seen in the left femur (Figure 1B). There was no other region where increased FDG uptake was detected. A pan-MRI study was also performed to uncover a possible primary pathology; however, there was no primary source or other metastasis. Eight months after the first surgery, he underwent a second surgery (resection of the proximal femur and implanting a tumor prosthesis for the hip) due to local recurrence. The pathological assessment of the excision material revealed neoplastic cells with clear cytoplasm compatible with metastasis of renal cell carcinoma (RCC) (Figure 2A). These neoplastic cells were also positive with CA9 staining, which is highly sensitive for RCC (Figure 2B). On physical examination, internal rotation of his left hip was limited, whereas the other ranges of motion of the lower extremities were normal. Muscle strength examination revealed significant weakness in the left knee extension (2+/5). Other physical examination findings were normal. Considering the history and examination, electromyography (EMG) was conducted to determine a possible femoral nerve pathology. EMG indicated partial chronic axonal damage of the femoral nerve below the point where it gives a branch for the iliopsoas muscle. Repeated ultrasound (US) examinations revealed no morphological changes in the femoral nerve. A rehabilitation program including range of motion and strengthening exercises for the left hip, electrical stimulation for the thigh, and walking/balance/coordination exercises was started immediately. Additionally, radiotherapy was scheduled by the oncology department. The patient remains under follow-up, and as of 24 months postfracture, no primary renal tumor or additional metastatic lesions have been identified.&lt;/p&gt;&lt;p&gt;Femoral neuropat","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12498274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231860","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 Spectrum of Headaches in Moyamoya Angiopathy: From Mechanisms to Management Strategies—A Consensus Review From the NEUROVASC Working Group","authors":"Nicola Rifino,&nbsp;Anne Hege Aamodt,&nbsp;Markus Wiedmann,&nbsp;Markus Kramer,&nbsp;Jana Becker,&nbsp;Stéphanie Guey,&nbsp;Francesco Acerbi,&nbsp;Dominique Herve,&nbsp;Anna Bersano","doi":"10.1111/ene.70316","DOIUrl":"10.1111/ene.70316","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Moyamoya angiopathy (MMA) is a rare, progressive cerebrovascular disorder characterized by stenosis or occlusion of the terminal internal carotid arteries, leading to the development of fragile collateral vessels. Headache is a common but understudied symptom of MMA, reported in up to 75% of patients. The headache phenotype often mimics migraine or tension-type headache, although cluster headache-like episodes have also been described. Aims to summarize current evidence on the clinical characteristics, underlying mechanisms, and treatment strategies for headache in MMA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>A narrative review of the literature was conducted, focusing on the prevalence, phenotype, pathophysiological mechanisms, and therapeutic options for headache in MMA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The pathogenesis of headache in MMA remains unclear but is likely multifactorial, involving impaired cerebrovascular autoregulation, microvascular ischemia, and collateral vessel development. No standardized treatment exists for MMA-related headache. Antiplatelet therapy, particularly aspirin, may offer some benefit, whereas NSAIDs and triptans require caution due to cerebrovascular risks. Emerging therapies such as calcitonin gene-related peptide (CGRP) inhibitors and Lasmiditan show potential but lack specific data in MMA patients. Surgical revascularization, mainly through direct or combined bypass, is an established intervention for stroke prevention and may also reduce headache burden. However, postoperative outcomes are heterogeneous, with reports of both headache improvement and new-onset headache.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion and Conclusion</h3>\u0000 \u0000 <p>Headache is a frequent and clinically relevant manifestation of MMA that significantly impacts quality of life. Evidence on optimal management remains scarce, and current strategies are largely empirical. Further studies are needed to clarify pathogenic mechanisms, refine patient selection for surgical interventions, and evaluate pharmacological treatments, including novel agents, to improve clinical outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70316","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211933","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":"Variably Defined Conduction Block, Temporal Dispersion and Other Electrophysiological Abnormalities in Multifocal Motor Neuropathy: A Multicentre Study","authors":"Yusuf A. Rajabally,&nbsp;Young Gi Min,&nbsp;Ahmad Al-Areed,&nbsp;Woohee Ju,&nbsp;Ramamurthy Arunachalam,&nbsp;Jung-Joon Sung,&nbsp;Chinar Osman","doi":"10.1111/ene.70361","DOIUrl":"10.1111/ene.70361","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The definition of conduction block (CB) is variable in multifocal motor neuropathy (MMN). In current criteria, excessive temporal dispersion (TD) may preclude the recognition of CB and the diagnosis of MMN.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively studied the electrophysiological data of 47 consecutive subjects with MMN and of 69 consecutive controls with upper limb-onset motor neuron disease, from three neuromuscular centres in the United Kingdom and Korea.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Compared to CB defined by compound muscle action potential (CMAP) area reduction (CB-Area) &gt; 30%, CB defined by CMAP amplitude reduction (CB-amp) &gt; 30% was more sensitive (78.7% vs. 63.8%; McNemar's Test: <i>p</i> = 0.008), but less specific versus controls (90.1% vs. 96.7%; McNemar's Test: <i>p</i> = 0.001). CB-amp &gt; 30% offered greater diagnostic accuracy than CB-Area &gt; 30% (Youden's Index: 0.688 vs. 0.606). TD showed a sensitivity of 59.6% and specificity of 94.3%. F-wave prolongation or absence showed a sensitivity of 42.6% and specificity of 96.9%. Considering CB-amp &gt; 30% or TD or F-wave prolongation or absence, as independent electrodiagnostic markers of MMN, improved diagnostic sensitivity from 78.7% to 91.5% compared to CB-amp &gt; 30% alone (McNemar's Test: <i>p</i> = 0.031), also offering optimal accuracy (Youden's Index: 0.816). Within this three-parameter combination, CB defined by CMAP amplitude reduction &gt; 30% offered similar sensitivity, specificity and accuracy to when defined by CMAP amplitude reduction &gt; 50%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>CB-amp has higher sensitivity and accuracy than CB-Area for the electrodiagnosis of MMN. Consideration of TD or F-wave prolongation or absence, as independently diagnostic of MMN, in addition to CB-amp &gt; 30% alone, may improve electrophysiological sensitivity as well as accuracy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70361","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211926","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":"Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features","authors":"Eleonora Torchia,&nbsp;Patrick Vandeputte,&nbsp;Mauro Monforte,&nbsp;Charlène Gillet,&nbsp;Christophe Verny,&nbsp;Rafaelle Bernard,&nbsp;Giorgio Tasca,&nbsp;Marco Spinazzi","doi":"10.1111/ene.70332","DOIUrl":"10.1111/ene.70332","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Objectives</h3>\u0000 \u0000 <p>Camptocormia, a pathological forward flexion of the spine, is a relatively common but often unexplained postural abnormality. Facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent adult myopathies, is caused by a contraction of D4Z4 repeats on chromosome 4 and typically presents with facial, scapular, and lower limb weakness. However, atypical phenotypes are increasingly recognized. We investigated camptocormia as a presenting feature of FSHD in a large neuromuscular cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study assessed clinical, genetic, and muscle imaging features in patients with FSHD presenting with camptocormia and compared them to patients with typical FSHD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 87 patients with genetically confirmed FSHD, 8 (9.1%) had camptocormia as the predominant and initial manifestation. FSHD also accounted for 47% (8/17) of all cases of camptocormia due to axial myopathy. Compared to classical FSHD, camptocormic patients exhibited later disease onset, moderately contracted D4Z4 repeats, and marked axial involvement, with predominant spinal extensor weakness and relatively preserved abdominal strength. Muscle MRI revealed more severe paravertebral involvement and milder serratus anterior involvement than typically observed in FSHD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Camptocormia represents a relatively frequent and distinct phenotypic variant of FSHD, particularly in older adults. Conversely, FSHD is a common cause of camptocormia due to axial myopathy. These findings expand the clinical spectrum of FSHD and underscore the importance of considering FSHD in the differential diagnosis of camptocormia, even in the absence of typical clinical signs of FSHD. Muscle imaging may assist in identifying FSHD-associated camptocormia.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70332","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211872","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":"Treating Sight Threatening Papilloedema in Idiopathic Intracranial Hypertension: Temporary Versus Permanent Intervention","authors":"Gabriele Berman,&nbsp;Michael Lowe,&nbsp;Georgios Tsermoulas,&nbsp;Susan P. Mollan","doi":"10.1111/ene.70370","DOIUrl":"10.1111/ene.70370","url":null,"abstract":"&lt;p&gt;Approximately 7% of all people living with idiopathic intracranial hypertension (IIH) require surgical intervention. Schwartzmann et al. [&lt;span&gt;1&lt;/span&gt;] have highlighted that there is a paucity of high-quality research in this clinical circumstance.&lt;/p&gt;&lt;p&gt;When to intervene in IIH to avoid permanent sight loss is an enduring question. The Birmingham IIH:Life study offered a distinct perspective on phenotyping those with sight-threatening disease and similarly noted that the height of the retinal nerve fibre layer could predict visual and structural outcomes [&lt;span&gt;2&lt;/span&gt;]. The authors used visual acuity as their outcome measure, which may be biased in papilloedema. In the IIH Treatment Trial, the investigators ‘over refracted’ the participants to omit the reduction in visual function caused by hyperopic shift [&lt;span&gt;3&lt;/span&gt;]. Visual acuity loss is a late sign in IIH, and it is important for all specialists to understand that visual field testing and structural imaging of the optic nerve head are instrumental in triangulating decision making.&lt;/p&gt;&lt;p&gt;It is logical that a higher lumbar puncture opening pressure suggests a more pathological disease state. We hypothesise that intracranial pressure (ICP) amplitude may be more informative than the absolute mean ICP [&lt;span&gt;4&lt;/span&gt;]. Reduction of ICP is one of the therapeutic aims in IIH, and this has been successfully evidenced in randomised control trials (RCTs) with acetazolamide, a very low calorie dietary intervention, bariatric surgery, and use of the glucagon-like peptide-1 receptor agonist, Exenatide [&lt;span&gt;3&lt;/span&gt;]. None of the surgical interventions, temporary or permanent, have yet been subject to the rigour of an RCT: two RCTs are currently evaluating shunts and neurovascular stents in the United Kingdom (ISRCTN57142415) and in France (NCT05050864) [&lt;span&gt;3&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;A previously published case that used a highly accurate telemetric ICP monitor in a person whose disease had become sight threatening provides insight here. Whilst awaiting definitive neurosurgical intervention, a lumbar drain was inserted where the ICP trace showed a marked drop in ICP. Three days later, the lumbar drain was clamped to facilitate the insertion of a ventricular peritoneal shunt. The drainage had not reversed the underlying disease process, and ICP rose from a mean −2.0 mmHg (equivalent to 2.7 cmCSF) to a mean 40.6 mmHg (equivalent to 55.2 cmCSF) over 2 h [&lt;span&gt;4&lt;/span&gt;]. Although the period of drainage was shorter than that published here [&lt;span&gt;1&lt;/span&gt;], there is an increasing risk of adverse events such as meningitis and cerebral venous sinus thrombosis the longer a drain is in situ.&lt;/p&gt;&lt;p&gt;Schwartzmann et al. report a 59% misadventure rate (6 relapses, 4 serious adverse events in 17 patients). This rate is high in comparison to modern shunt surgeries, neurovascular stents, and optic nerve sheath fenestration. However, one group that could potentially be treated with a temporary drainage would be th","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 10","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70370","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211918","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":"Cardioembolic Breakthrough Stroke: When Anticoagulation Fails, Is Left Atrial Appendage Closure the Next Step?","authors":"Lina Palaiodimou, Georgios Tsivgoulis","doi":"10.1111/ene.70387","DOIUrl":"https://doi.org/10.1111/ene.70387","url":null,"abstract":"","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 10","pages":"e70387"},"PeriodicalIF":3.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145291485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}