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Delayed neurological recovery in ischemic stroke patients undergoing endovascular treatment is associated with baseline hyperglycemia: a treatable cause of the stunned brain phenomenon? 接受血管内治疗的缺血性脑卒中患者的神经功能恢复延迟与基线高血糖有关:脑震荡现象的可治疗原因?
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-04-04 DOI: 10.1007/s00415-025-13019-x
Susan Klapproth, Lukas Meyer, Helge Kniep, Matthias Bechstein, Anna Kyselyova, Susanne Gellißen, Christian Heitkamp, Laurens Winkelmeier, Uta Hanning, Gerhard Schön, Marlene Heinze, Karolin Schulte, Jens Fiehler, Gabriel Broocks
{"title":"Delayed neurological recovery in ischemic stroke patients undergoing endovascular treatment is associated with baseline hyperglycemia: a treatable cause of the stunned brain phenomenon?","authors":"Susan Klapproth, Lukas Meyer, Helge Kniep, Matthias Bechstein, Anna Kyselyova, Susanne Gellißen, Christian Heitkamp, Laurens Winkelmeier, Uta Hanning, Gerhard Schön, Marlene Heinze, Karolin Schulte, Jens Fiehler, Gabriel Broocks","doi":"10.1007/s00415-025-13019-x","DOIUrl":"10.1007/s00415-025-13019-x","url":null,"abstract":"<p><strong>Background and aims: </strong>In ischemic stroke, there is limited data regarding the impact of baseline hyperglycemia on the treatment effect of recanalization on neurological recovery. This study aimed to directly compare-how short- and long-term serum glucose levels modify the effect of recanalization on functional outcome in patients with ischemic stroke and specifically analyze the occurrence of delayed neurological recovery (\"stunned brain phenomenon\").</p><p><strong>Methods: </strong>Observational retrospective analysis including patients with anterior circulation ischemic stroke and large vessel occlusion undergoing mechanical thrombectomy following multimodal-CT upon admission. The primary endpoint was delayed neurological recovery, defined as a lack of early neurological improvement (ENI) at 24 h despite achieving functional independence at day 90. Binary ENI was defined as 24 h-NIHSS ≤ 8 points. The treatment effect of recanalization defined as mTICI 2b-3 was determined for patients with high versus low serum blood glucose (BG, cut-off: 140 mg/dl). Inverse-probability weighting analysis (IPW) was used to assess the treatment effect of recanalization according to glucose profiles.</p><p><strong>Results: </strong>A total of 348 patients were included in the analysis. The treatment effect of recanalization in patients with low BG on the NIHSS at 24 h and binary ENI was  - 3.5 (95%CI  - 5.3 to  - 1.8, p < 0.001) and 22.4% (95%CI 13.1-31.8, p < 0.001). Furthermore, recanalization in patients with low BG was associated with functional independence at day 90 (26.4%, 95%CI 17.1-35.8, p < 0.001). For patients with high BG, recanalization was not associated with a lower NIHSS at 24 h ( - 1.4, 95%CI  - 3.7-0.9, p = 0.24) although significantly being associated with functional independence at day 90 (+ 14.7%, 95%CI 4.5-24.9, p = 0.005).</p><p><strong>Discussion: </strong>Successful vessel recanalization was associated with better functional outcome at day 90 independent of BG profiles; however, acute hyperglycemia was significantly linked to delayed neurological recovery. Hence, hyperglycemia might be a major cause of the stunned brain phenomenon and might consequently serve as a promising target for adjunctive therapy in the treatment of ischemic stroke patients.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"313"},"PeriodicalIF":4.8,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11971131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780263","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}
引用次数: 0
Rate of change in upper and lower motor neuron burden is associated with survival in amyotrophic lateral sclerosis. 上肢和下肢运动神经元负荷的变化率与肌萎缩性侧索硬化症患者的生存率相关。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-04-04 DOI: 10.1007/s00415-025-13052-w
A Maranzano, F Gentile, M Passaretti, A Doretti, E Colombo, A K Wall, M Treddenti, V Patisso, A De Lorenzo, C Gendarini, A Cocuzza, A D Maio, S Pierro, B Poletti, C M Cinnante, C Morelli, S Messina, J B Pereira, O Hardiman, V Silani, F Verde, N Ticozzi
{"title":"Rate of change in upper and lower motor neuron burden is associated with survival in amyotrophic lateral sclerosis.","authors":"A Maranzano, F Gentile, M Passaretti, A Doretti, E Colombo, A K Wall, M Treddenti, V Patisso, A De Lorenzo, C Gendarini, A Cocuzza, A D Maio, S Pierro, B Poletti, C M Cinnante, C Morelli, S Messina, J B Pereira, O Hardiman, V Silani, F Verde, N Ticozzi","doi":"10.1007/s00415-025-13052-w","DOIUrl":"https://doi.org/10.1007/s00415-025-13052-w","url":null,"abstract":"<p><strong>Background: </strong>We hypothesize that the rate of change in upper (ΔUMN) and lower (ΔLMN) motor neuron signs from symptom onset to first clinical assessment represent best predictors of survival and disease progression in amyotrophic lateral sclerosis (ALS) compared to singular quantification of UMN and LMN involvement.</p><p><strong>Methods: </strong>A retrospective inpatient cohort of 1000 ALS patients was evaluated. The burden of UMN and LMN signs was assessed using the Penn Upper Motor Neuron Score and Lower Motor Neuron Score, respectively. For 421 patients, we compute the ENCALS survival model. Univariate and regularized Cox regressions were conducted to estimate the effect of the aforementioned variables on survival. The ROC curve analysis was then employed to a training sub-cohort to identify a ΔLMN cut-off value discriminating ALS patients with prolonged vs short survival. This cut-off value was then cross validated on a test sub-cohort. A multinomial regression model was used to compare different ΔUMN and ΔLMN scores among ENCALS groups.</p><p><strong>Results: </strong>ΔUMN and ΔLMN showed a negative association with survival (ΔUMN: HR = 1.30; ΔLMN: HR = 4.22). A cut-off value of 0.22 for ΔLMN was identified to predict patients with estimated short vs prolonged survival. ENCALS groups characterized by shorter survival presented significantly higher ΔUMN and ΔLMN scores compared to those with longer survival. No significant association of PUMNS or LMNS gross scores with the above-mentioned variables was observed.</p><p><strong>Conclusion: </strong>By reflecting the progressing degeneration of the two distinct motor neuron subpopulations, ΔUMN and ΔLMN might represent reliable and easily measurable clinical indexes to estimate survival in ALS.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"315"},"PeriodicalIF":4.8,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788566","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}
引用次数: 0
Does deep brain stimulation of the anterior nucleus of the thalamus represent the future of Lennox-Gastaut syndrome? 丘脑前核的深部脑刺激是否代表lenox - gastaut综合征的未来?
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-04-03 DOI: 10.1007/s00415-025-13053-9
Gaëtan Poulen, Philippe Gélisse, Arielle Crespel, Emilie Chan-Seng, Pierre-Olivier Moser, Philippe Coubes
{"title":"Does deep brain stimulation of the anterior nucleus of the thalamus represent the future of Lennox-Gastaut syndrome?","authors":"Gaëtan Poulen, Philippe Gélisse, Arielle Crespel, Emilie Chan-Seng, Pierre-Olivier Moser, Philippe Coubes","doi":"10.1007/s00415-025-13053-9","DOIUrl":"10.1007/s00415-025-13053-9","url":null,"abstract":"<p><strong>Background: </strong>Some studies have indicated that deep brain stimulation (DBS) of the thalamus targeting the centromedian nucleus (CMN) may reduce the frequency of seizures in Lennox-Gastaut syndrome (LGS), albeit with incomplete results. DBS targeting of the anterior nucleus of the thalamus (ANT) has demonstrated efficacy in refractory focal epilepsies and is currently FDA-approved for adult treatment. Additionally, the ANT nucleus is morphologically larger than the CMN, facilitating precise targeting and with potentially higher implantation success rates.</p><p><strong>Patients and methods: </strong>Three adult patients (one male, two females), all experiencing daily seizures that included episodes of falling, underwent ANT-DBS, one at the age of 22 years, and two at 28 years. Two electrodes were implanted under general anesthesia, using intra-operative MRI and a micro-endoscope. The clinical data regarding seizure frequency and severity, as well as cognitive function and adaptive behaviors, were collected prospectively.</p><p><strong>Results: </strong>One patient achieved seizure freedom 3 years post-surgery. This was confirmed by a current follow-up of 8 years after DBS, which represents a total seizure-free period of 5 years. Two patients were followed for 18 and 24 months, respectively; both achieved a seizure reduction of over 75%. All three patients demonstrated considerable improvements in adaptive behavior. No side effects (in particular psychiatric disorders) were observed with the applied therapeutic stimulation parameters.</p><p><strong>Conclusion: </strong>This series showed promising results in adult patients with LGS for both improvement of seizure frequency and adaptive behavior. The current use of pediatric thalamic stimulation is limited but the benefits shown in adults present promising prospects for its future application.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"312"},"PeriodicalIF":4.8,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11968461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780264","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}
引用次数: 0
Clinical benefits of invasive intracranial pressure monitoring for spontaneous intracranial hemorrhage: a systematic review and meta-analysis. 有创颅内压监测对自发性颅内出血的临床益处:系统综述和荟萃分析。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-04-03 DOI: 10.1007/s00415-025-13057-5
Dan Shen, Lailai Shen, Xinjian Du, Dongyuan Deng, Wanting Zhang, Christina Zhong, Gui Su
{"title":"Clinical benefits of invasive intracranial pressure monitoring for spontaneous intracranial hemorrhage: a systematic review and meta-analysis.","authors":"Dan Shen, Lailai Shen, Xinjian Du, Dongyuan Deng, Wanting Zhang, Christina Zhong, Gui Su","doi":"10.1007/s00415-025-13057-5","DOIUrl":"10.1007/s00415-025-13057-5","url":null,"abstract":"<p><strong>Background: </strong>This meta-analysis evaluated the clinical benefits of invasive intracranial pressure (ICP) monitoring for spontaneous intracranial hemorrhage with specific focuses on the hypertensive intracerebral hemorrhage (ICH) subgroup and the outcomes when combined with minimally invasive surgery (MIS).</p><p><strong>Methods: </strong>PubMed and Embase were searched to identify studies comparing the clinical outcomes from ICP monitoring vs. non-ICP monitoring. Primary outcomes included in-hospital and 6-month mortality rates. Secondary outcomes were hospital length of stay (LOS), proportion of patients with poor 6-month functional outcomes, and central nervous system (CNS) infection rates. Subgroup analyses were performed on hypertensive ICH subgroup and on MIS vs. non-MIS subgroups. This study was registered in PROSPERO (CRD42024587974).</p><p><strong>Results: </strong>Thirteen studies involving 4,027 patients with spontaneous intracranial hemorrhage were included. Compared with non-ICP monitoring, ICP monitoring significantly reduced the 6-month mortality rate (43.33% vs. 28.67%, P < 0.00001), the proportion of patients with poor 6-month functional outcomes (70.49% vs. 56.71%, P = 0.0003), and hospital LOS (19.71 vs. 18.15 days, P = 0.001) but increased CNS infection rate (1.56% vs.7.49%, P < 0.00001). The hypertensive ICH subgroup analysis revealed that ICP monitoring significantly reduced in-hospital mortality rate (8.57% vs. 2.78%, P = 0.02), LOS (18.42 vs.14.54 days, P < 0.00001), and the proportion of patients with poor 6-month functional outcomes (60.00% vs. 38.77%, P = 0.001). When used with MIS, ICP monitoring significantly reduced the LOS (16.98 vs. 12.45 days, P < 0.00001) and the proportion of patients with poor 6-month functional outcomes (66.89% vs. 36.22%, P < 0.00001).</p><p><strong>Conclusion: </strong>ICP monitoring improves short- and long-term outcomes in patients with spontaneous intracranial hemorrhage, particularly when combined with MIS therapy.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"310"},"PeriodicalIF":4.8,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772656","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}
引用次数: 0
Cerebrospinal fluid and blood neurofilament light chain in Parkinson's disease and atypical parkinsonian syndromes: a systematic review and Bayesian network meta-analysis. 帕金森病和非典型帕金森综合征中的脑脊液和血液神经丝轻链:系统综述和贝叶斯网络荟萃分析。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-04-03 DOI: 10.1007/s00415-025-13051-x
Wenyi Kou, Siming Li, Rui Yan, Junjiao Zhang, Zhirong Wan, Tao Feng
{"title":"Cerebrospinal fluid and blood neurofilament light chain in Parkinson's disease and atypical parkinsonian syndromes: a systematic review and Bayesian network meta-analysis.","authors":"Wenyi Kou, Siming Li, Rui Yan, Junjiao Zhang, Zhirong Wan, Tao Feng","doi":"10.1007/s00415-025-13051-x","DOIUrl":"https://doi.org/10.1007/s00415-025-13051-x","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background and objective: &lt;/strong&gt;The value of neurofilament light chain (NfL) levels as a biomarker for the diagnosis and differential diagnosis in patients with Parkinson's disease (PD) and atypical parkinsonian syndromes (APS) remains controversial. Furthermore, few studies have directly compared NfL levels among specific APS categories. This study aimed to compare cerebrospinal fluid (CSF) and blood NfL levels among PD, APS, other PD-related disorders, and controls, as well as rank NfL levels across these groups.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;PubMed, Embase, Web of Science, and the Cochrane Library were searched from the inception up to November 1st, 2024, to identify eligible studies reporting CSF or blood NfL concentrations in PD, PD dementia (PDD), multiple system atrophy (MSA), progressive supranuclear palsy (PSP), dementia with Lewy bodies (DLB), corticobasal syndrome (CBS), vascular parkinsonism (VP), essential tremor (ET), idiopathic rapid eye movement sleep behavior disorder (iRBD), and controls. The Bayesian approach was utilized to estimate the standardized mean difference (SMD) and the associated 95% credible intervals (CrIs) of NfL levels. The surface under the cumulative ranking curve (SUCRA) was employed to evaluate the ranking probabilities of NfL levels. Subgroup analysis and meta-regression were conducted to explore the sources of heterogeneity.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The present network meta-analysis (NMA) included 78 studies with 13,120 participants (4050 controls, 5021 PD, 191 PDD, 1173 MSA, 887 PSP, 1254 DLB, 319 CBS, 160 ET, 65 iRBD, and 0 VP). Of these, the NMA of CSF NfL included 34 studies with 6,013 participants, while the NMA of blood NfL included 49 studies with 7,787 participants. Both CSF and blood NfL levels were significantly elevated in patients with PD and APS compared to controls. Compared to PD patients, CSF NfL levels were significantly elevated in MSA (SMD 1.85; 95% CrI 1.55-2.15), CBS (1.42; 1.08-1.75), PSP (1.35; 1.06-1.64), and DLB 0.52; 0.20-0.85) patients. Similarly, blood NfL levels were significantly higher in patients with MSA (1.36; 1.02-1.71), PDD (1.19; 0.65-1.72), PSP (1.15; 0.77-1.54), CBS (0.92; 0.11-1.72), and DLB (0.63; 0.14-1.12) compared to PD. Among APS, CSF NfL levels in MSA patients were significantly higher than those in PSP, DLB, and CBS patients, while blood NfL levels in MSA patients were significantly higher only compared to DLB. In both CSF and blood NfL, MSA patients exhibited the highest probability of ranking first for NfL level elevations (CSF: SUCRA = 0.998; blood: SUCRA = 0.925). Age significantly influenced the SMD of the comparison between MSA and PD in CSF NfL (β = -0.15; p = 0.016).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;CSF and blood NfL levels in PD and APS are higher than those in controls, and all APS categories show higher levels than PD, suggesting that NfL levels may serve as a potential biomarker for the differential diagnosis between PD and","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"311"},"PeriodicalIF":4.8,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780262","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}
引用次数: 0
Investigating the safety and efficacy of deoxycytidine/deoxythymidine in mitochondrial DNA depletion disorders: phase 2 open-label trial. 研究脱氧胞苷/脱氧胸腺嘧啶治疗线粒体DNA缺失疾病的安全性和有效性:2期开放标签试验。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-04-02 DOI: 10.1007/s00415-025-13060-w
Saoussen Berrahmoune, Christelle Dassi, Heather Pekeles, Anthony C T Cheung, Tommy Gagnon, Paula J Waters, Daniela Buhas, Kenneth A Myers
{"title":"Investigating the safety and efficacy of deoxycytidine/deoxythymidine in mitochondrial DNA depletion disorders: phase 2 open-label trial.","authors":"Saoussen Berrahmoune, Christelle Dassi, Heather Pekeles, Anthony C T Cheung, Tommy Gagnon, Paula J Waters, Daniela Buhas, Kenneth A Myers","doi":"10.1007/s00415-025-13060-w","DOIUrl":"10.1007/s00415-025-13060-w","url":null,"abstract":"<p><strong>Objective: </strong>Mitochondrial DNA depletion disorders are rare genetic disorders involving mitochondrial dysfunction. These diseases are genetically and clinically heterogeneous but share the common feature of progressively degenerative courses. At present, there are no approved treatments for mitochondrial DNA depletion disorders, though recent reports have suggested that treatment with deoxycytidine/deoxythymidine could be effective for subtypes caused by pathogenic variants in two specific genes, POLG and TK2. We investigated the therapeutic potential of deoxycytidine/deoxythymidine for people with mitochondrial DNA depletion disorders due to pathogenic variants in genes other than POLG and TK2.</p><p><strong>Methods: </strong>We analyzed interim data from an open-label clinical trial of deoxycytidine/deoxythymidine for treatment of mitochondrial DNA depletion disorders, specifically examining disorders due to pathogenic variants in genes other than POLG and TK2. Outcome measures included Newcastle Mitochondrial Disease Scale score and serum growth differentiation factor 15, a mitochondrial function biomarker.</p><p><strong>Results: </strong>Data were available from eight individuals having pathogenic variants in FBXL4, SUCLG1, SUCLA2, or RRM2B. Newcastle Mitochondrial Disease Scale score improved in all individuals except for one who withdrew before the first follow-up visit; group level analysis was significant at 1-month and 6-month timepoints. Five patients had elevated growth differentiation factor 15 at baseline; of these, levels improved in four, including three whose values normalized.</p><p><strong>Conclusion: </strong>These data suggest deoxycytidine/deoxythymidine is a safe and therapeutically promising intervention for a broad range of mitochondrial DNA depletion disorders.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"307"},"PeriodicalIF":4.8,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772711","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}
引用次数: 0
When neuromuscular disorders become stars. 当神经肌肉疾病成为明星。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-04-02 DOI: 10.1007/s00415-025-13058-4
Stéphane Mathis, Diane Beauvais, Fanny Duval, Marlène Barnay, Valentin Strub, Emilie Géfard-Gontier, Guilhem Solé, Gwendal Le Masson
{"title":"When neuromuscular disorders become stars.","authors":"Stéphane Mathis, Diane Beauvais, Fanny Duval, Marlène Barnay, Valentin Strub, Emilie Géfard-Gontier, Guilhem Solé, Gwendal Le Masson","doi":"10.1007/s00415-025-13058-4","DOIUrl":"https://doi.org/10.1007/s00415-025-13058-4","url":null,"abstract":"<p><p>This retrospective study identified 125 audio-visual works from cinema and television, including films, TV series, and documentaries, depicting neuromuscular disorders since 1910. Motor neuron disorders, including amyotrophic lateral sclerosis (ALS), had the highest representation (69.3%), followed by myopathies (20%). The predominant genre was documentary (48%), which offered more factual representation than fictional works. ALS was overrepresented due to its dramatic nature and association with notable figures, including the American baseball player Lou Gehrig and British theoretical physicist Stephen Hawking; other neuromuscular disorders, such as Duchenne muscular dystrophy, were depicted less frequently. Despite inaccuracies in some portrayals, these works raise public awareness and contribute to a greater understanding of rare diseases, such as neuromuscular disorders, among the general public.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"305"},"PeriodicalIF":4.8,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764126","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}
引用次数: 0
Natural history of facioscapulohumeral muscular dystrophy evaluated by multiparametric quantitative MRI: a prospective cohort study. 多参数定量MRI评估面肩肱肌营养不良的自然史:一项前瞻性队列研究。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-04-02 DOI: 10.1007/s00415-025-13062-8
M Paoletti, M Monforte, L Barzaghi, G Tasca, N Bergsland, A Faggioli, F Solazzo, G Manco, S Bortolani, E Torchia, B Ravera, X Deligianni, F Santini, E Ballante, S Figini, T Tartaglione, E Ricci, A Pichiecchio
{"title":"Natural history of facioscapulohumeral muscular dystrophy evaluated by multiparametric quantitative MRI: a prospective cohort study.","authors":"M Paoletti, M Monforte, L Barzaghi, G Tasca, N Bergsland, A Faggioli, F Solazzo, G Manco, S Bortolani, E Torchia, B Ravera, X Deligianni, F Santini, E Ballante, S Figini, T Tartaglione, E Ricci, A Pichiecchio","doi":"10.1007/s00415-025-13062-8","DOIUrl":"10.1007/s00415-025-13062-8","url":null,"abstract":"<p><strong>Background: </strong>Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive skeletal muscle wasting. Longitudinal muscle magnetic resonance imaging (MRI) studies demonstrated that the risk of developing irreversible fatty replacement is higher in muscles showing edematous lesions. The quantification of this phenomenon is an understudied topic in FSHD and intramuscular water content can also represent a potential biomarker sensitive to the effect of investigational drugs. We applied a multiparametric quantitative muscle MRI protocol to assess disease progression quantifying fatty replacement and muscle edema over 2 years, using fat fraction (FF) and water-T2 (wT2) metrics.</p><p><strong>Methods: </strong>Thirty FSHD patients with at least one muscle showing signs of edema on conventional MRI were enrolled. FF and wT2 maps were assessed in 12 thigh and 6 leg muscles for each side, and a linear mixed model was employed to explore their variations over time. The measurements were acquired at baseline, 12, and 24 months. Quantitative MRI parameters were also correlated with clinical scales and functional assessments collected at baseline.</p><p><strong>Results: </strong>The average yearly increase in FF was 2 ± 0.6% at thigh level and 1.9 ± 0.7% at leg level. No significant longitudinal changes in wT2 were observed. Muscles with intermediate FF (15-30%) at baseline and those with baseline wT2 values above 41 ms showed the highest increase in fat replacement. Both FF and wT2 showed significant correlations with clinical scales and functional assessments.</p><p><strong>Conclusions: </strong>Our longitudinal study identified muscles and compartments more likely to show FF increase in FSHD subjects. Multiparametric quantitative MRI metrics should be incorporated into clinical trial frameworks to explore their potential in detecting early therapeutic effects.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"306"},"PeriodicalIF":4.8,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11965262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764124","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}
引用次数: 0
Procedural and Clinical Outcome of Stroke after thrombectomy according to etiology: results from a nationwide registry. 根据病因,取栓后卒中的程序和临床结果:来自全国登记的结果。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-04-02 DOI: 10.1007/s00415-025-13026-y
Ilaria Casetta, Giovanni Pracucci, Valentina Saia, Enrico Fainardi, Fabrizio Sallustio, Bruno Del Sette, Tiziana Benzi Markushi, Orazio Buonomo, Ludovica Ferraù, Mauro Bergui, Paolo Cerrato, Sandra Bracco, Rossana Tassi, Stefano Vallone, Guido Bigliardi, Guido A Lazzarotti, Nicola Giannini, Leonardo Renieri, Patrizia Nencini, Daniele Romano, Rosa Napoletano, Simone Galluzzo, Andrea Zini, Roberto Menozzi, Alessandro Pezzini, Nicolò Mandruzzato, Manuel Cappellari, Maria Ruggiero, Marco Longoni, Sergio Nappini, Federico Mazzacane, Nicola Burdi, Giovanni Boero, Nicola Cavasin, Adriana Critelli, Andrea Calzoni, Tiziana Tassinari, Andrea Saletti, Cristiano Azzini, Valerio Da Ros, Giordano Lacidogna, Domenico S Zimatore, Marco Petruzzellis, Davide Castellano, Andrea Naldi, Francesco Biraschi, Ettore Nicolini, Alessio Comai, Elisa Dall' Ora, Emilio Lozupone, Marcella Caggiula, Ivan Gallesio, Delfina Ferrandi, Marco Perri, Simona Sacco, Michele Besana, Alessia Giossi, Giuseppe Carità, Monia Russo, Gianluca Galvano, Eleonora Saracco, Marco Pavia, Paolo Invernizzi, Marco Filizzolo, Marina Mannino, Edoardo Puglielli, Alfonsina Casalena, Salvatore Mangiafico, Danilo Toni
{"title":"Procedural and Clinical Outcome of Stroke after thrombectomy according to etiology: results from a nationwide registry.","authors":"Ilaria Casetta, Giovanni Pracucci, Valentina Saia, Enrico Fainardi, Fabrizio Sallustio, Bruno Del Sette, Tiziana Benzi Markushi, Orazio Buonomo, Ludovica Ferraù, Mauro Bergui, Paolo Cerrato, Sandra Bracco, Rossana Tassi, Stefano Vallone, Guido Bigliardi, Guido A Lazzarotti, Nicola Giannini, Leonardo Renieri, Patrizia Nencini, Daniele Romano, Rosa Napoletano, Simone Galluzzo, Andrea Zini, Roberto Menozzi, Alessandro Pezzini, Nicolò Mandruzzato, Manuel Cappellari, Maria Ruggiero, Marco Longoni, Sergio Nappini, Federico Mazzacane, Nicola Burdi, Giovanni Boero, Nicola Cavasin, Adriana Critelli, Andrea Calzoni, Tiziana Tassinari, Andrea Saletti, Cristiano Azzini, Valerio Da Ros, Giordano Lacidogna, Domenico S Zimatore, Marco Petruzzellis, Davide Castellano, Andrea Naldi, Francesco Biraschi, Ettore Nicolini, Alessio Comai, Elisa Dall' Ora, Emilio Lozupone, Marcella Caggiula, Ivan Gallesio, Delfina Ferrandi, Marco Perri, Simona Sacco, Michele Besana, Alessia Giossi, Giuseppe Carità, Monia Russo, Gianluca Galvano, Eleonora Saracco, Marco Pavia, Paolo Invernizzi, Marco Filizzolo, Marina Mannino, Edoardo Puglielli, Alfonsina Casalena, Salvatore Mangiafico, Danilo Toni","doi":"10.1007/s00415-025-13026-y","DOIUrl":"10.1007/s00415-025-13026-y","url":null,"abstract":"<p><strong>Background: </strong>The impact of stroke etiology on outcomes in patients who underwent endovascular thrombectomy (EVT) is still a matter of debate. We studied the effect of aterosclerotic versus cardioembolic etiology on the clinical and radiological outcome of patients with stroke due to large vessel occlusion (LVO) treated with EVT on a large sample of stroke patients enrolled in a nationwide registry.</p><p><strong>Methods: </strong>The source of data was the Italian Registry of Endovascular Stroke Treatments, a national, prospective, observational internet-based registry including patients treated with EVT since 2011. We extracted and compared data of patients suffering from large atherosclerosis (LAA) or cardioembolic (CE) stroke.</p><p><strong>Results: </strong>We included 5193 patients, 3899 CE, and 1294 LAA stroke. Patients with CE were significantly older (p < 0.001), and their stroke severity at admission was significantly higher (p < 0.001). Moreover, patients with LAA had significantly longer onset to end of procedure time, and procedure duration than CE patients. Good outcome at three months was reported in 45.2% of LAA and 45.4% of CE patients (p = 0.89). In the multivariable analysis, patients with CE had higher odds of achieving successful (OR = 1.61; 95% CI 1.35-1.92) or complete (OR = 1.40; 95% CI 1.21-1.62) recanalization Futile recanalization was detected more frequently in CE patients (OR = 1.35; 95% CI 1.18-1.61). There were no statistically significant differences in clinical outcomes (mRS 02: OR = 1.12; 95% CI 0.92-1.36). LAA patients had higher odds of sICH (OR = 0.65; 95% CI 0.49-0.85). The shift analysis showed a trend toward a better outcome in CE patients (OR = 1.19; 95% CI 0.99-1.35), which was statistically significant in subjects with anterior circulation stroke. (OR = 1.21; 95% CI 1.04-1.35).</p><p><strong>Conclusions: </strong>The study showed a better chance of successful recanalization in CE patients, a slightly better outcome in CE patients with anterior circulation stroke after adjusting for baseline confounders, despite their more unfavourable risk factor profile, and a higher chance of futile recanalization.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"308"},"PeriodicalIF":4.8,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772712","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}
引用次数: 0
Efficacy and safety of middle meningeal artery embolization for nonacute subdural hematoma. 脑膜中动脉栓塞治疗非急性硬膜下血肿的疗效和安全性。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-04-02 DOI: 10.1007/s00415-025-13029-9
Wenhong Nie, Wei Jiang, Hao Huang, Guanghui Xu, Qi Hu, Hui Zhou, Wentai Zhang, Jiwei Wu, Xuexia Chen
{"title":"Efficacy and safety of middle meningeal artery embolization for nonacute subdural hematoma.","authors":"Wenhong Nie, Wei Jiang, Hao Huang, Guanghui Xu, Qi Hu, Hui Zhou, Wentai Zhang, Jiwei Wu, Xuexia Chen","doi":"10.1007/s00415-025-13029-9","DOIUrl":"10.1007/s00415-025-13029-9","url":null,"abstract":"<p><strong>Background: </strong>This study aims to synthesise data from randomized controlled trials (RCTs) to evaluate the efficacy and safety of middle meningeal artery embolization (MMAE) in the treatment of nonacute subdural hematoma (SDH).</p><p><strong>Methods: </strong>We systematically searched electronic databases for RCTs comparing the efficacy and safety of MMAE with conventional treatment (usual care with or without surgery) for nonacute SDH. The primary efficacy outcome was treatment failure. Secondary efficacy outcomes included changes in hematoma volume, thickness, and functional independence. The primary safety outcome was severe adverse events, and the secondary safety outcome was mortality. Pooled analyses were conducted using risk ratios (RRs) and their 95% confidence intervals (CIs) with random effects model. Trial sequential analysis (TSA) employed to assess the robustness of the evidence.</p><p><strong>Results: </strong>Six RCTs with 1481 patients were included in the final analysis. Compared to conventional treatment groups, the proportion of treatment failure were lower in the adjunctive MMAE group (RR 0.48, [95% CI 0.34-0.68]), with TSA suggesting sufficient evidence. There was no significant difference in the risk of severe adverse events between the MMAE and conventional treatment groups (RR 0.85, [95% CI 0.63-1.15]). No significant differences were found in secondary outcomes. Further analysis showed that MMAE plus surgery also significantly reduced the proportion of treatment failure compared to surgery alone (RR 0.55, [95% CI 0.34-0.91]), without increasing severe adverse events. In the TSA, the cumulative z-line crossed the boundary for effect.</p><p><strong>Conclusions: </strong>MMAE significantly reduces the risk of treatment failure in patients with nonacute SDH, without increasing the incidence of severe adverse events.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"309"},"PeriodicalIF":4.8,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772710","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}
引用次数: 0
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