European Journal of Neurology最新文献

{"title":"Clinical Findings in Temporal Lobe Epilepsy Associated With Isolated Amygdala Enlargement","authors":"Annika Kirscht,&nbsp;Johann Philipp Zöllner,&nbsp;Nadine Conradi,&nbsp;Elisabeth Neuhaus,&nbsp;Elke Hattingen,&nbsp;Marcus Belke,&nbsp;Susanne Knake,&nbsp;Laurent Willems,&nbsp;Jennifer Wichert,&nbsp;Andreas Jansen,&nbsp;Felix Rosenow,&nbsp;Adam Strzelczyk","doi":"10.1111/ene.70225","DOIUrl":"https://doi.org/10.1111/ene.70225","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Mesial temporal lobe epilepsy (mTLE) infrequently presents with isolated amygdala enlargement (AE), but its relevance remains ambiguous. We therefore investigated clinical, imaging, and histopathological findings in mTLE-AE compared to non-lesional mTLE (mTLE-NL) patients, and additionally strategies for identifying AE.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We detected AE by automated volumetry of otherwise unremarkable magnetic resonance images of mTLE patients, compared with a healthy comparator. Autoimmune inflammation as an AE cause was excluded using the Graus criteria. We compared clinical and neuropsychological variables between mTLE-AE and mTLE-NL. Secondary assessment of AE was by neuroradiologist visual detection.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 63 mTLE patients, 15 had mTLE-AE. In these, normalized mean volume was 1857.58 mm³ (SD = 207.38) for the left, 1973.09 mm³ (SD = 214.91) for the right amygdala, 2003.34 mm³ (SD = 218.85) for the larger and 1827.34 mm³ (SD = 179.85) for the smaller amygdala. Mean volume in the healthy control subjects was 1853.4 mm³ for the left (SD = 212.44) and 1895.2 mm³ for the right amygdala (SD = 224.29). Clinical parameters including age, sex, epilepsy duration, history of febrile convulsions, drug resistance, neuropsychological performance, surgical outcome, and medications did not differ significantly between mTLE-AE and mTLE-NL. Histopathological findings in mTLE-AE included dysmorphic neurons, potential tumors, and focal cortical dysplasia. Neuroradiologists independently described AE in 37 of 63 mTLE patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>mTLE-AE has no specific clinical profile compared to non-lesional mTLE and features diverse underlying pathologies. Volumetric detection appears more conservative than conventional qualitative visual analysis, but may miss cases of subtle AE. Combining automated volumetry with visual assessment may improve AE detection.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 6","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70225","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144148585","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":"Cardiac Events After Mechanical Thrombectomy in Acute Ischemic Stroke: A Nation-Wide Cohort Study","authors":"Nicolaj Grønbæk Laugesen,&nbsp;Jakob Nebeling Hedegaard,&nbsp;David Gaist,&nbsp;Claus Ziegler Simonsen,&nbsp;Boris Modrau,&nbsp;Klaus Hansen,&nbsp;Søren Paaske Johnsen,&nbsp;Thomas Truelsen","doi":"10.1111/ene.70223","DOIUrl":"https://doi.org/10.1111/ene.70223","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Mechanical thrombectomy (MT) markedly improves the outcome in patients with large vessel occlusion stroke. Given the cardiovascular risk profile of these patients, we wanted to investigate their post-MT risk of cardiac events compared to other patients with acute ischemic stroke (AIS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>All hospitalizations for AIS in Denmark from 2014 to 2021 were included in this registry-based cohort study. Patients were categorized by reperfusion treatment: MT with or without intravenous thrombolysis (IVT), IVT alone, or no reperfusion treatment (NRT). Cardiac events included ischemic heart disease, heart failure, or cardiac death within 6 months of AIS. Pair-wise group comparisons were performed after inverse probability treatment weighting (IPTW).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 76,092 AIS patients, 4.4% received MT, 15.2% received IVT alone, and 80.4% received NRT. In the MT group, 9.6% of patients experienced cardiac events. After IPTW, MT patients had the highest risk of cardiac events compared to IVT (absolute risk difference [ARD] 4.6%, cause-specific hazard rate ratio [HRR] 1.42 [95% CI: 1.27–1.60]) and NRT (ARD 4.6%, HRR 1.35 [95% CI: 1.22–1.49]). Pre-existing cardiac disease was similar across groups (9.2%–11.8%) and after exclusion of patients with prior cardiac disease, the HRR of cardiac events remained consistent with the primary analysis (MT vs. IVT: HRR 1.48 [95% CI: 1.31–1.68]; MT vs. NRT: 1.39 [95% CI: 1.24–155]).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>10% of patients with AIS undergoing MT experienced cardiac events within 6 months compared to 5% of other AIS patients. This study identified an unrecognized burden of cardiac disease in this group of AIS patients treated with MT.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 6","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70223","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144148586","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":"Neurotoxicity at the Tides: A Call to Action on Marine Microplastics and Brain Health","authors":"Raffaele Marfella,&nbsp;Ulf Kallweit","doi":"10.1111/ene.70181","DOIUrl":"https://doi.org/10.1111/ene.70181","url":null,"abstract":"&lt;p&gt;The ubiquity of plastic waste in our oceans has long served as a stark reminder of human impact on the environment and the unreflective approach to nature. But a more insidious threat is now surfacing—literally. Microplastics (MPs), once considered primarily a marine ecological issue, are now increasingly linked to human health concerns, more precisely to brain health. Recent findings by Makwana et al. published in this issue of the &lt;i&gt;European Journal of Neurology&lt;/i&gt;, mark a critical turning point: the demonstration of a population-level association between exposure to marine microplastics and neurological and functional disabilities [&lt;span&gt;1&lt;/span&gt;]. In their analysis of 218 coastal counties in the United States, the authors observed a striking pattern. Communities exposed to very high levels of marine microplastics showed a significantly elevated prevalence of cognitive, mobility, self-care, and independent living disabilities—even after adjusting for age, socioeconomic vulnerability, comorbidities, and access to healthcare. They also accounted for other exposures, such as air pollution. While causation cannot be established from this cross-sectional data, the consistency of associations and biological plausibility make the findings difficult to ignore [&lt;span&gt;1&lt;/span&gt;]. Microplastics—defined as plastic particles smaller than 5 mm—are not benign environmental remnants. Experimental studies have shown that they can cross the intestinal barrier, enter the bloodstream, and penetrate the blood–brain barrier (BBB) [&lt;span&gt;2, 3&lt;/span&gt;]. Once in neural tissue, microplastics can trigger oxidative stress, disrupt neurotransmitter systems, and activate pro-inflammatory cascades [&lt;span&gt;4&lt;/span&gt;]. Most concerning, they appear to promote the aggregation of misfolded proteins such as α-synuclein and amyloid-β, which are hallmark pathologies in Parkinson's and Alzheimer's diseases, respectively [&lt;span&gt;5, 6&lt;/span&gt;]. The implications for neurology are profound. For decades, environmental risk factors such as delicate particulate matter (PM2.5) have been linked to stroke, cognitive decline, and neurodevelopmental disorders. The mechanistic parallels between air pollution and microplastic exposure—both of which involve systemic inflammation, blood–brain barrier (BBB) disruption, and proteinopathy—suggest that we may be witnessing the emergence of a new environmental neurotoxin [&lt;span&gt;4, 7&lt;/span&gt;]. Recent evidence underscores the urgency of this issue. In a 2024 &lt;i&gt;New England Journal of Medicine&lt;/i&gt; study, micro- and nanoplastics were identified in atherosclerotic plaques and were associated with increased cardiovascular events, including stroke—further linking plastic exposure to neurovascular injury [&lt;span&gt;8&lt;/span&gt;]. Even more compelling, a 2025 &lt;i&gt;study in Nature Medicine&lt;/i&gt; by Nihart and Campen et al. demonstrated microplastic accumulation in human post-mortem brain tissue, with significantly higher concentrations in individuals diagnosed with dementia [&lt;","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 5","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70181","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118190","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":"Glial Fibrillary Acid Protein Reflects Disease Activity in Autoimmune Encephalitis","authors":"Johannes Piepgras,&nbsp;Marlene L. Piepgras,&nbsp;Falk Steffen,&nbsp;Laura Ehrhardt,&nbsp;Martin A. Schaller-Paule,&nbsp;Yavor Yalachkov,&nbsp;Frauke Zipp,&nbsp;Stefan Bittner","doi":"10.1111/ene.70207","DOIUrl":"https://doi.org/10.1111/ene.70207","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>Management of autoimmune encephalitis (AE) is challenging due to a lack of reliable biomarkers. We here assess the combination of glial fibrillary acid protein (GFAP) and neurofilament (NfL) as biomarkers for diagnosis and disease monitoring of AE.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>GFAP and NfL CSF levels (cGFAP, cNfL) of 42 AE patients were correlated with CSF markers of neuroinflammation. NfL/GFAP ratios were compared between patients with stable and active AE, stable and active multiple sclerosis (MS), and patients undergoing diagnostic lumbar puncture without evident pathological alterations (controls).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In patients with AE, cGFAP levels showed strong correlations with albumin and IgG quotients and moderate correlations with CSF cell count; cNfL levels showed weak correlations with albumin quotients. cGFAP and cNfL levels showed no significant differences between patients with and without epileptic activity or inflammatory MRI lesions. Both sNfL and sGFAP correlated with the Clinical Assessment Scale in Autoimmune Encephalitis. Compared to NfL or GFAP alone, the NfL/GFAP ratio from CSF or serum led to a clearer separation of AE from MS patients and controls. Furthermore, serum NfL/GFAP ratios better discriminated active from stable AE.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>cGFAP levels indicate intrathecal inflammatory processes in patients with active AE to a stronger degree than cNfL levels. Serum NfL/GFAP ratios recognize active AE, suggesting this ratio identifies AE patients with CNS-compartmentalized neuronal injury (autoantibody-mediated or cytotoxic) behind a relatively intact blood–brain barrier. Our findings indicate that the NfL/GFAP ratio can function as a blood-based biomarker, aiding clinicians with diagnosis and disease management of AE.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 5","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70207","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118193","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":"Theory of Mind in Myotonic Dystrophy Type 1 Is Associated With Cortical Gyrification and White Matter Hyperintensities","authors":"Jean-Baptiste Davion,&nbsp;Céline Tard,&nbsp;Romain Viard,&nbsp;Loren Fragoso,&nbsp;Amina Wilu-Wilu,&nbsp;Luc Defebvre,&nbsp;Grégory Kuchcinski,&nbsp;Xavier Delbeuck","doi":"10.1111/ene.70216","DOIUrl":"https://doi.org/10.1111/ene.70216","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Theory of Mind (ToM) Refers to the ability to infer other people's thoughts (Cognitive ToM) and emotions (Affective ToM). Myotonic Dystrophy Type 1 (DM1) Patients Showed an impairment of ToM capacities, but the underlying neural mechanisms remain poorly understood.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We included 58 adult non-congenital DM1 patients from the DMVASCOG cohort, who underwent a ToM evaluation using the Movie for the Assessment of Social Cognition and a brain MRI. Association of ToM scores with cortical thickness and gyrification was assessed using FreeSurfer software, and associations with white matter hyperintensities were assessed using SVR-LSM. Finally, we included all the significantly associated parameters in a multivariate model.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The ToM total score and cognitive subscore were both associated with the local gyrification in the right superior parietal gyrus and with the hyperintensities in the bilateral temporopolar white matter. The ToM total score was also associated with hyperintensities in the bilateral temporo-parietal and left frontal white matter. Multivariate models based on these parameters allowed a better prediction of the ToM total score (<i>R</i>² = 0.49) and cognitive subscore (<i>R</i>² = 0.52) than univariate models. There was no association between ToM measures and cortical thickness, nor between brain MRI measures and affective subscore/error types.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The ToM cognitive involvement in DM1 is associated with both the gyrification in the right superior parietal gyrus and the volume of hyperintensities in the anterior-temporal white matter, suggesting the possible joint implication of a neurodevelopmental phenomenon and disconnections arising from white matter changes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 5","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70216","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118145","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":"Differential Lesion Patterns Associated With Stroke-Induced Apraxia in Women and Men","authors":"Nina N. Kleineberg,&nbsp;Claudia C. Schmidt,&nbsp;Gereon R. Fink,&nbsp;Peter H. Weiss","doi":"10.1111/ene.70201","DOIUrl":"https://doi.org/10.1111/ene.70201","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The motor-cognitive syndrome apraxia is a common stroke sequela and severely affects the outcome after stroke by impairing activities of daily living. Notably, like in many health conditions, there is a massive backlog regarding studies on sex differences in patients with apraxia despite common knowledge that sex influences praxis performance in healthy participants. We investigated putative sex differences in apraxic stroke patients at the behavioral and neural levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively analysed the data of a cohort of 102 left-hemisphere stroke patients in the (sub)acute phase who were apraxic according to the Cologne Apraxia Screening (KAS). We conducted voxel-based lesion–symptom mapping (VLSM) to elucidate the lesion patterns. Further, in an age-matched subsample (tolerance of 5 years) with equal numbers of men and women, behavioral comparisons and a VLSM analysis were conducted to explore differential sex-related lesion patterns.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Overall, apraxic deficits were associated with lesions in the parietal, temporal, and frontal regions in the cohort of 102 left-hemisphere stroke patients. The age-matched cohort consisted of 30 women and 30 men and showed no significant differences in demographic and clinical characteristics. There were no performance differences between men and women at the behavioral level regarding praxis functions. In contrast, VLSM revealed differential lesion patterns by sex. Male compared to female apraxic stroke patients significantly more often showed lesions that affected the left inferior frontal gyrus.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The data suggest a differential organization of the praxis system in men and women, warranting further exploration.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 5","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70201","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118146","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":"Impact of Marine Microplastics on Neurologic and Functional Disabilities: A Population-Level Study","authors":"Bhargav Makwana,&nbsp;Brinda Desai,&nbsp;Jayashri Srinivasan,&nbsp;Diana Apetauerova,&nbsp;Sourbha S. Dani,&nbsp;Siddharth Sehgal,&nbsp;Oleg Yerstein,&nbsp;Sumanth Khadke,&nbsp;Ashish Kumar,&nbsp;Khurram Nasir,&nbsp;Rishi Wadhera,&nbsp;Yixin Kong,&nbsp;Ana Navas-Acien,&nbsp;Gary Adamkiewicz,&nbsp;Sanjay Rajagopalan,&nbsp;Sadeer Al-Kindi,&nbsp;Susan Moffatt-Bruce,&nbsp;Sarju Ganatra","doi":"10.1111/ene.70144","DOIUrl":"https://doi.org/10.1111/ene.70144","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Microplastics are emerging as environmental pollutants with potential neurotoxic effects, yet their association with neurological disabilities remains largely unexplored.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this cross-sectional study comprising 218 coastal counties in the United States, we compared the self-reported prevalence of cognitive disability, mobility disability, self-care disability, and independent living disability in counties with very high and low marine microplastic levels (MMLs). Unadjusted and adjusted prevalence ratios (PRs) were computed using population-weighted quasi-Poisson regression across three different models to examine the relationship between disability prevalence and MMLs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Counties exposed to very high marine microplastic levels had a higher mean prevalence of self-reported cognitive disability (15.2% vs. 13.9%), mobility disability (14.1% vs. 12.3%), self-care disability (4.2% vs. 3.6%), and independent living disability (8.5% vs. 7.7%) compared to those exposed to low levels (<i>p</i> &lt; 0.001). Regression analyses revealed significantly elevated adjusted prevalence ratios (PRs) for cognitive (PR: 1.09 [95% CI: 1.06–1.12], <i>p</i> &lt; 0.001), mobility (PR: 1.06 [1.03–1.10], <i>p</i> &lt; 0.001), self-care (PR: 1.16 [1.11–1.20], <i>p</i> &lt; 0.001), and independent living disability (PR: 1.08 [1.05–1.12], <i>p</i> &lt; 0.001) in counties with very high microplastic exposure compared to those with low exposure.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study highlights a significant association between marine microplastic pollution and the self-reported prevalence of cognitive, mobility, self-care, and independent living disabilities at the county level. While merely associative, these findings emphasize the urgent need for further investigation into the individual-level health impacts of microplastic exposure and underscore the importance of environmental interventions to mitigate potential risks.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 5","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70144","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144100512","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":"Nerve Conduction Study and the Prognosis of Amyotrophic Lateral Sclerosis: Exploration of Additional Neuroelectrophysiological Parameters","authors":"Jie Yang,&nbsp;Feng Xiao,&nbsp;Ying Liu,&nbsp;Jiaying Bai,&nbsp;Song Tan","doi":"10.1111/ene.70209","DOIUrl":"https://doi.org/10.1111/ene.70209","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To investigate the correlation between nerve conduction study (NCS) parameters and the prognosis of patients with amyotrophic lateral sclerosis (ALS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>NCS parameters were recorded from the median, ulnar, peroneal, tibial, and superficial peroneal nerves of 114 sporadic patients with ALS. The main endpoint was death or tracheostomy. Univariate Cox regression analysis was conducted for all the NCS parameters. Subsequently, multivariate analysis was performed using Cox stepwise regression, incorporating factors identified in the univariate analysis and known prognostic factors. Kaplan–Meier curves and log-rank tests were used for survival analysis. Receiver operating characteristic (ROC) curves were used to assess the predictive capabilities of NCS parameters.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The distal compound muscle action potential (dCMAP) negative peak area and the sensory nerve action potential (SNAP) amplitude of the median nerve were identified as prognostic factors for ALS. Further stratified analyses showed that larger median dCMAP negative peak area significantly correlated with better prognosis in elderly (&gt; 61 years) patients with limb-onset ALS. Conversely, higher median SNAP amplitudes indicated worse prognosis in younger (≤ 61 years) patients with limb-onset ALS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The current study showed that the dCMAP negative peak area and SNAP amplitude of the median nerve are independent prognostic factors for sporadic ALS patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 5","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70209","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144100668","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":"High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions","authors":"Federica Feo,&nbsp;Luciana Tramacere,&nbsp;Silvia Ramat,&nbsp;Alessandra Govoni,&nbsp;Luca Caremani,&nbsp;Giulia Grigioni,&nbsp;Davide Mei,&nbsp;Silvia Falliano,&nbsp;Francesca Marin,&nbsp;Lorenzo Ferri,&nbsp;Antonella Paoli,&nbsp;Marina Rinaldi,&nbsp;Giancarlo la Marca,&nbsp;Daniela Ombrone,&nbsp;Elena Procopio,&nbsp;Renzo Guerrini,&nbsp;Amelia Morrone,&nbsp;Anna Caciotti","doi":"10.1111/ene.70206","DOIUrl":"https://doi.org/10.1111/ene.70206","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>Galactocerebrosidase (GALC) deficiency causes Krabbe disease, a severe lysosomal neurodegenerative condition. Emerging evidence suggests that heterozygous <i>GALC</i> variants may contribute to multiple sclerosis, attention-deficit hyperactivity disorder, and synucleinopathies. We aim to investigate the potential association between <i>GALC</i> heterozygous variants and neurodegenerative disorders, expanding on existing literature.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We screened 110 adults with symptoms shared by lysosomal storage disorders (LSDs) and common neurodegenerative diseases, such as Parkinson's disease, Lewy body dementia, and ataxias of different etiology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We found <i>GALC</i> heterozygosity in this group to be notably enriched, approximately 1 in 28, compared to 1 in 150 in the general population. This led to a focus on 11 individuals with pathogenetic <i>GALC</i> variants and/or the disease-associated polymorphism p.(Arg184Cys). One patient, compound heterozygous for a pathogenetic variant and the p.(Arg184Cys), exhibited reduced  GALC activity and a clinical course consistent with late-onset Krabbe disease. In another patient, we found the very rare synonymous variant p.(Leu238Leu) in the <i>GALC</i> gene. Two patients carrying known pathogenetic <i>GALC</i> variants were also heterozygous for other known pathogenetic variants in other LSD-associated genes, including <i>HEXB</i> (Sandhoff disease) and <i>GUSB</i> (mucopolysaccharidosis VI).</p>\u0000 \u0000 <p>All the 11 patients in the selected cohort exhibited symptoms similar to atypical Parkinson's disease and a high frequency of leukoencephalopathy, inflammatory disorders, and cancer.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings indicate a possible connection between the patients' neurodegenerative conditions and <i>GALC</i> defects, including disease-associated polymorphisms and silent variants. Additional genetic alterations affecting sphingolipid and glycosaminoglycan metabolism may act as contributing factors.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 5","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70206","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144091723","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":"Idiopathic Intracranial Hypertension in Pregnancy. A Systematic Review on Clinical Course, Treatments, Delivery and Maternal-Fetal Outcome","authors":"Matteo Palermo,&nbsp;Gianluca Trevisi,&nbsp;Sonia D'Arrigo,&nbsp;Carmelo Lucio Sturiale","doi":"10.1111/ene.70186","DOIUrl":"https://doi.org/10.1111/ene.70186","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Idiopathic intracranial hypertension (IIH) during pregnancy presents significant challenges due to the physiological gestational changes, which can exacerbate its symptoms.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a systematic review on studies reporting maternal-fetal outcomes of IIH during pregnancy, selecting 49 papers reporting on clinical course, management strategies, and mode of delivery.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We retrieved 165 patients with 178 pregnancies affected by IIH. Obesity represented a common risk factor (69.1%), but the association with other cardiovascular and metabolic risk factors was poorly discussed. Overall, 62.9% presented worsening of the headache and 66.8% impairing visual disturbances, but these data were extrapolated from single cases or small series comporting a selection bias potentially overestimating the real risk.</p>\u0000 \u0000 <p>First-line treatment is currently represented by acetazolamide (52 cases) or other diuretics (4 cases) associated with weight control. Serial lumbar punctures (LP) were reported in 26.9% of cases of ineffective pharmacological treatment. Shunt (3.9%) and optic nerve sheath fenestration (1.1%) were overall performed in a minority of cases.</p>\u0000 \u0000 <p>Second-line management was characterized by serial LP in patients initially treated only with diuretics and shunt placement (4.5%) or optic nerve sheath fenestration (1.7%) for patients requiring continuous CSF subtractions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Although pregnancy-related physiological changes may exacerbate the IIH and the actual risk remains difficult to quantify, this appears overall low in terms of re-exacerbation of the disease or de-novo onset. Diuretics, in particular acetazolamide, that did not show a causal relationship with congenital malformations, and serial lumbar punctures represent safe and effective first-line managements, whereas shunt procedures should be reserved for fulminant cases. A pre-gestational symptoms relief seems to reduce the probability of a severe worsening in pregnancy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 5","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70186","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144091724","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}