European Neurology最新文献

{"title":"Clinical Manifestations of Tuberous Sclerosis: A Retrospective Analysis of 20 Cases.","authors":"Xu Zhang, Cong Xie, Zhihua Si, Ju Liu, Aihua Wang, Meng Kong, Jinzhi Liu, Zhangyong Xia","doi":"10.1159/000546608","DOIUrl":"https://doi.org/10.1159/000546608","url":null,"abstract":"<p><strong>Background: </strong>Tuberous sclerosis (TSC) is an autosomal dominant genetic disorder with a wide range of clinical manifestations. This study aimed to retrospectively analyze the clinical records of TSC patients, focusing on the first onset times and age ranges for various symptoms.</p><p><strong>Methods: </strong>The clinical data of TSC patients were analyzed retrospectively, including general information, clinical manifestations, and treatment plans, with particular attention to the first onset times and age ranges for different symptoms.</p><p><strong>Results: </strong>The study found that 15 patients presented with different types of skin lesions, 13 patients, including 6 with intellectual disabilities, experienced epileptic seizures. Additionally, 14 patients had kidney damage, 6 showed varying degrees of cardiac involvement, and 8 exhibited lung lesions.</p><p><strong>Conclusions: </strong>By integrating the clinical features and imaging characteristics of TSC, multiple manifestations of the disease were identified, providing further clinical evidence for its recognition. This is beneficial for early monitoring and effective disease prevention and improvement.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"1-14"},"PeriodicalIF":2.1,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Small Fiber Neuropathy in Long COVID: a cohort study with multimodal assessment and follow-up.","authors":"Natalia Drobinska, Mayssam Nehme, Fréderic Assal, Emmanuel Laffitte, Idris Guessous, Agustina M Lascano","doi":"10.1159/000546015","DOIUrl":"https://doi.org/10.1159/000546015","url":null,"abstract":"<p><strong>Background: </strong>Given the increasing number of patients suffering from pain associated with dysautonomic symptoms following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, we aimed to estimate the occurrence of small fiber neuropathy (SFN) in a cohort of long coronavirus disease 19 (COVID-19) patients reporting post-infectious neuropathic pain.</p><p><strong>Methods: </strong>The study cohort included 18 patients suffering from symptoms suggestive of SFN (Neuropathic pain score DN4 ≥4) appearing after or during SARS-CoV-2 infection and lasting ≥90 days. Patients underwent multimodal SFN evaluation by skin biopsy, quantitative sensory testing (QST), laser evoked potential (LEP) recording and Electrochemical skin conductance (ESC; Sudoscan).</p><p><strong>Results: </strong>Out of 18 patients, 17 were analyzed. Participants' ages averaged 44+/-9 years, with 94% females. Fourteen (82%) had abnormal skin biopsy results. Notably, 12/17 (70%) patients presented with autonomic complaints, all of whom had abnormal skin biopsy results. At 6 months follow-up, 10/17 patients reported a subjective improvement in pain and/or dysautonomia with or without symptomatic pharmacological or non-pharmacological treatment. In our cohort, QST showed the highest sensibility (79%) and specificity (67%), followed by LEP (sensibility 71%, specificity 67%). ESC showed poor reliability in the screening of SFN with a sensibility of 7% and specificity of 50%.</p><p><strong>Conclusion: </strong>The results of our study suggest that SFN may develop during or shortly after SARS-CoV-2 infection, provoking disabling sensory and dysautonomic symptoms that tend to persist for more than 6 months. Furthermore, our findings imply that non-invasive exams, are a useful complement to biopsy in the diagnostic process of SFN.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"1-18"},"PeriodicalIF":2.1,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Charcot's son's shift from medicine to maritime: \" Pourquoi pas? \".","authors":"Emmanuel Drouin, Serge Waserszttum","doi":"10.1159/000546117","DOIUrl":"https://doi.org/10.1159/000546117","url":null,"abstract":"<p><p>Jean-Baptiste Charcot, son of the famous neurologist from La Salpêtrière and father of neurology, began his career as a neurologist as his illustrious father had imposed on him. However, after his father's death in 1893, he turned to his first love, sailing. We have brought back a copy of Jean-Baptiste's thesis, sent to Professor Fulgence Raymond, who succeeded Jean-Martin Charcot. Jean-Baptiste realised that he could not have a brilliant career if he remained in his father's shadow.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"1-7"},"PeriodicalIF":2.1,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Epidemiology of Huntington's Disease in Iceland.","authors":"Saga Briem, Vigdis Stefansdottir, Jon Johannes Jónsson, Olafur Sveinsson","doi":"10.1159/000546150","DOIUrl":"10.1159/000546150","url":null,"abstract":"<p><strong>Introduction: </strong>Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by involuntary movements, psychiatric symptoms and cognitive decline. Its prevalence is highest in individuals of European descent. However, a previous study in 2007 in Iceland showed an unusually low incidence and prevalence. The aim of this study was to investigate the incidence and prevalence of HD in Iceland between 2008 and 2022 as well as age, sex, symptoms, number of cytidine-adenosine-guanosine (CAG) repeats, treatment, and prognosis.</p><p><strong>Methods: </strong>A retrospective epidemiological study was conducted with clinical information obtained from medical records of individuals diagnosed with HD 2008-2022. Information was also obtained from the Department of Genetics at University Hospital of Iceland and neurologists managing HD patients.</p><p><strong>Results: </strong>Among the 22 diagnosed individuals (11 men) identified, the point prevalence on December 31, 2022, was 4.38 per 100,000 inhabitants, with an average annual incidence rate of 0.314 per 100,000 person-years. The average age at symptom onset was 46.3 years. A total of 21 out of 22 individuals had confirmed HD through genetic testing, with an average CAG repeat length of 42.3 (range 40-45). Five individuals died during the study period, with the most common cause of death being aspiration pneumonia. The average age at death was 70.4 years.</p><p><strong>Conclusion: </strong>The prevalence and incidence of HD in Iceland have increased compared to the 2007 study but remain lower than in other European populations. Results showed a lower number of CAG repeats in the Icelandic HD population, potentially explaining the higher age at symptom onset and death compared to global averages.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"1-7"},"PeriodicalIF":2.1,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12162110/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of Brain Functional Connectivity in Patients with Delayed Encephalopathy after Carbon Monoxide Poisoning Based on Functional Near-Infrared Spectroscopy Technology.","authors":"Xin Yang, Lan Zeng, Jinyao Li, Zhiqiang Huang, Weiwei He, Xiaoming Wang","doi":"10.1159/000545272","DOIUrl":"10.1159/000545272","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to observe the brain network characteristics of delayed encephalopathy after carbon monoxide poisoning (DEACMP) using functional near-infrared spectroscopy (fNIRS) technology.</p><p><strong>Methods: </strong>Fifteen patients with carbon monoxide poisoning (DEACMP group) hospitalized in the Department of Neurology, Affiliated Hospital of North Sichuan Medical College, from November 2023 to March 2024 were selected. Fifteen healthy volunteers (the control group) were also recruited. Six-minute resting-state fNIRS data were collected from all subjects. Five cognitive-related key brain regions were selected as regions of interest (ROI): parietal cortex (PC), premotor cortex (PMC), frontopolar cortex (FPC), orbitofrontal cortex (OFC), and dorsolateral prefrontal cortex (DLPFC). NirSpark software was used to analyze the differences in whole-brain functional connectivity strength and functional connectivity strength within and between ROIs between the two groups.</p><p><strong>Results: </strong>The functional connectivity strength of the left PMC, right PMC, and left FPC, etc. In the DEACMP group, it was significantly lower than that in the control group (p < 0.05, FDR corrected). Compared with the control group, the brain network of DEACMP patients showed heterogeneity from left PC to right PC; left PC∼left PMC; left PC∼right PMC; left PC∼left DLPFC, etc. The functional connectivity strength between the left PC and the right DLPFC area has significantly decreased. All these differences were statistically significant (p < 0.05, FDR adjusted).</p><p><strong>Conclusion: </strong>DEACMP exhibits abnormal functional connectivity in both whole-brain and cognitive-related key brain regions. This aberrant connectivity may represent the underlying neural network mechanisms responsible for the cognitive dysfunction observed in DEACMP.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"1-8"},"PeriodicalIF":2.1,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The History of the Evans Index.","authors":"Kimberley J R Fleuren, Peter J Koehler, Erik I Hoff","doi":"10.1159/000545917","DOIUrl":"10.1159/000545917","url":null,"abstract":"","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"1-5"},"PeriodicalIF":2.1,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143973828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Origins of Neuromuscular Electrodiagnosis, 1800-1950: A Crucial Period.","authors":"Laurent Tatu, Yann Péréon","doi":"10.1159/000544957","DOIUrl":"10.1159/000544957","url":null,"abstract":"","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"32-39"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness of Transcranial Direct Current Stimulation in Treating Drug-Resistant Focal Epilepsy: A Systematic Review and Meta-Analysis.","authors":"Luis A Marin-Castañeda, Jimena Gonzalez-Salido, Iris E Martínez-Juárez, Nadia Palomera-Garfias, Brandon Flores, Daniela Muñoz-Guerrero, Gerson Ángel Alavez, Geronimo Pacheco Aispuro","doi":"10.1159/000543106","DOIUrl":"10.1159/000543106","url":null,"abstract":"<p><strong>Introduction: </strong>Epilepsy is a prevalent neurological disorder globally, with about 30% of patients developing resistance despite optimal antiseizure drug therapies. Transcranial direct current stimulation (tDCS) is a noninvasive neuromodulation technique and offers a potential therapeutic alternative for drug-resistant focal epilepsy, aiming to reduce seizure frequency and improve patient quality of life.</p><p><strong>Methods: </strong>Following PRISMA guidelines, a search was performed on MEDLINE, Web of Science, and Cochrane Library from inception to June 2024. Included articles were randomized controlled trials reporting seizure frequency, IEDs, and adverse events in patients with focal epilepsy treated with tDCS. Quality assessment was conducted using RoB2, and data were analyzed using a random-effects model.</p><p><strong>Results: </strong>Nine studies involving 253 patients met the inclusion criteria. tDCS significantly reduced seizure frequency at 1- and 2-month follow-up compared to placebo, with a mean difference (MD) of -2.62, 95% CI (-5.20, -0.04), p = 0.05 at 1 month and MD of -2.80, 95% CI (-5.08, -0.53), p = 0.02 at 2 months. No significant changes in IEDs were observed. Adverse events were generally mild and consisted of itching, skin rash, and headache being the most common.</p><p><strong>Conclusion: </strong>tDCS reduces seizure frequency in patients with drug-resistant focal epilepsy and is associated with minimal adverse effects. However, there was no significant impact on IEDs, and the studies included exhibited considerable heterogeneity. More standardized research is required to validate these findings and optimize treatment protocols.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"18-27"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predicting Postoperative Delirium Using Intraoperative Neuromonitoring in Patients Undergoing Craniotomy for Aneurysm Clipping Surgery.","authors":"Abdullah M Al-Qudah, Leen Alkalbani, Pooja S Tallapaneni, Diti Vinuthna Vinuthna, Varshapriya Suresh, Katherine M Anetakis, Donald Crammond, Jeffrey Balzer, Varun Shandal, Shyam Visweswaran, Kathirvel Subramaniam, Senthilkumar Sadhasivam, Parthasarathy Thirumala","doi":"10.1159/000541593","DOIUrl":"10.1159/000541593","url":null,"abstract":"<p><strong>Introduction: </strong>Postoperative delirium (POD) that is associated with intracranial surgeries can have several adverse outcomes, including a high rate of morbidity and mortality. The use of intraoperative neurophysiological monitoring (IONM) via somatosensory evoked potentials (SSEP) and electroencephalography (EEG) provides continuous information regarding cerebral blood flow (CBF) during aneurysm clipping. In this study, we hypothesize that CBF changes during aneurysm clipping increase the risk of POD. We aimed to demonstrate that significant changes in IONM data during surgery increase the risk of POD after adjusting for clinical and intraoperative factors.</p><p><strong>Methods: </strong>470 patients undergoing craniotomy for aneurysm clipping surgery with IONM were retrospectively reviewed for the development of POD. Significant IONM changes were evaluated based on a visual review of EEG and SSEP data and documentation of significant changes during surgery. Data changes during IONM were classified as SSEP changes, EEG changes, or IONM changes (SSEP and/or EEG changes).</p><p><strong>Results: </strong>Of the 470 patients who underwent aneurysm clipping, 115 (24.5%) had POD and 35 (30.4%) had IONM changes. IONM and SSEP changes were significantly associated with POD (p < 0.001). After adjusting for confounding variables, IONM and SSEP changes were significantly associated with POD (adjusted odds ratio (aOR) 2.4 [CI: 1.40-4.17]; p = 0.002) and (aOR 2.49 [CI: 1.39-4.45]; p = 0.002), respectively. We also found that the odds of POD were higher in patients with ruptured aneurysms and in patients who developed focal neurological deficits postoperatively (aOR 2.76, 1.72-4.42; p < 0.001) and (aOR 2.11, 1.02-4.36, p = 0.04), respectively.</p><p><strong>Conclusion: </strong>Patients who develop POD after craniotomy for aneurysm clipping surgery are twice as likely to have experienced significant IONM or SSEP changes during the surgery. Patients with ruptured aneurysms and who develop postoperative focal neurological deficits are also more than twice as likely to develop POD. These findings provide a strong platform for future research in testing therapeutic interventions based on IONM changes, which aim to decrease the risk of POD after aneurysm clipping surgeries.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"1-10"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sex Differences in Markers of Cerebral Small Vessel Disease in Patients with Lobar Intracerebral Hemorrhage.","authors":"Diego Incontri, Sarah Marchina, Mitchell Wilson, Jia-Yi Wang, Merryjean Losso, Alexander Andreev, David Lin, Elizabeth C Heistand, Filipa Carvalho, Juliette Marchal, Anusha Nallaparaju, Vasileios Lioutas, Magdy H Selim","doi":"10.1159/000542983","DOIUrl":"10.1159/000542983","url":null,"abstract":"<p><strong>Introduction: </strong>Cerebral small vessel disease (CSVD) is a major cause of primary lobar intracerebral hemorrhage (ICH) due to cerebral amyloid angiopathy (CAA) or hypertensive arteriopathy (HA). Sex differences in CSVD imaging markers and prevalence of CAA vs HA in lobar ICH remain unexplored.</p><p><strong>Methods: </strong>We performed a retrospective analysis of patients with primary lobar ICH who underwent MRI during hospitalization. We collected demographic, clinical, and outcome data. We reviewed MRIs for CSVD markers and calculated composite CSVD burden score (cCSVDbs). We assigned possible/probable CAA using Boston criteria 2.0. We grouped patients based on their sex and examined associations between sex and CSVD markers, cCSVDbs, or CAA. Kaplan Meier survival analysis was used to determine ICH-onset age among patients with first-ever symptomatic lobar ICH.</p><p><strong>Results: </strong>214 patients were included (102 [47.66%] women). Men were more likely to be current alcohol abusers (25.69% vs. 9.09%, p = 0.002), current smokers (24.30% vs. 12.12%, p = 0.024) and have coronary artery disease (26.79% vs. 15.69%, p = 0.048), and hyperglycemia on admission (142.79 ± 59.59 vs. 126.58 ± 37.29, p = 0.019). Women were older (74.91 ± 11.69 vs. 69.28 ± 14.53 years, p = 0.002), and more likely to have possible/probable CAA in univariate (97.06% vs. 88.39%; OR: 4.33, 95% CI: 1.19-15.67; p = 0.025) but not multivariate analysis. We found no significant differences in MRI markers of CSVD, cCSVDbs, or CAA. Among patients who presented with their first-ever primary symptomatic lobar ICH (n = 187), men were younger than women (73 vs 77 years, p = 0.001).</p><p><strong>Conclusions: </strong>In our cohort of patients with primary lobar ICH, we found no significant difference in clinical and imaging characteristics between sexes. However, men were more likely to have a younger lobar ICH-onset age compared to women.</p>","PeriodicalId":12065,"journal":{"name":"European Neurology","volume":" ","pages":"11-17"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143406242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}