Journal of Neurology最新文献

筛选
英文 中文
Correction: Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-02-17 DOI: 10.1007/s00415-025-12899-3
Barry J Byrne, Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, Paula R Clemens, Ozlem Goker-Alpan, Xue Ming, Mark Roberts, Matthias Vorgerd, Kumaraswamy Sivakumar, Ans T van der Ploeg, Mitchell Goldman, Jacquelyn Wright, Fred Holdbrook, Vipul Jain, Elfrida R Benjamin, Franklin Johnson, Sheela Sitaraman Das, Yasmine Wasfi, Tahseen Mozaffar
{"title":"Correction: Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).","authors":"Barry J Byrne, Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, Paula R Clemens, Ozlem Goker-Alpan, Xue Ming, Mark Roberts, Matthias Vorgerd, Kumaraswamy Sivakumar, Ans T van der Ploeg, Mitchell Goldman, Jacquelyn Wright, Fred Holdbrook, Vipul Jain, Elfrida R Benjamin, Franklin Johnson, Sheela Sitaraman Das, Yasmine Wasfi, Tahseen Mozaffar","doi":"10.1007/s00415-025-12899-3","DOIUrl":"10.1007/s00415-025-12899-3","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"213"},"PeriodicalIF":4.8,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11832724/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441101","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
CSF biomarkers of B-cell activation in multiple sclerosis: a clinical perspective.
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-02-17 DOI: 10.1007/s00415-025-12907-6
Elena Di Sabatino, Diana Ferraro, Lorenzo Gaetani, Edoardo Emiliano, Lucilla Parnetti, Massimiliano Di Filippo
{"title":"CSF biomarkers of B-cell activation in multiple sclerosis: a clinical perspective.","authors":"Elena Di Sabatino, Diana Ferraro, Lorenzo Gaetani, Edoardo Emiliano, Lucilla Parnetti, Massimiliano Di Filippo","doi":"10.1007/s00415-025-12907-6","DOIUrl":"10.1007/s00415-025-12907-6","url":null,"abstract":"<p><p>The role of B cells in the pathophysiology of multiple sclerosis (MS) extends beyond antibody synthesis, also involving the modulation of T lymphocytes and myeloid cells. B-cell activation within the Central Nervous System is associated with the release of various antibodies, cytokines, and chemokines, measurable in biofluids, thereby serving as biomarkers of the immune processes responsible for MS. To this purpose, a biomarker-based characterization of the disease through the combination of well-established markers, e.g., immunoglobulin (Ig) G index, IgG oligoclonal bands, Ig free light chains, with new promising markers, namely chemokine (C-X-C motif) ligand 13, and B-cell activating factor/A proliferation-inducing ligand, might represent a significant improvement in the management of people with MS.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"211"},"PeriodicalIF":4.8,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11832686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441103","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
Stroke in adults with primary intracranial tumours.
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-02-17 DOI: 10.1007/s00415-025-12929-0
Stuart C Innes, Lucia Yin, Gerald T Finnerty
{"title":"Stroke in adults with primary intracranial tumours.","authors":"Stuart C Innes, Lucia Yin, Gerald T Finnerty","doi":"10.1007/s00415-025-12929-0","DOIUrl":"10.1007/s00415-025-12929-0","url":null,"abstract":"<p><strong>Background: </strong>We investigated stroke in patients with either benign or malignant primary intracranial tumours to give insights into how malignant and non-malignant intracranial tumours affect stroke and to provide evidence for stroke guidelines for these patients.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study of patients with benign or malignant primary intracranial tumours admitted with stroke (2011-2022) to a single centre with regional stroke and neuro-oncology units. Data collected included: stroke aetiology, stroke timing relative to tumour diagnosis, pre-stroke disability, post-stroke disability, stroke recurrence and treatment.</p><p><strong>Results: </strong>We identified 258 patients who had an index stroke (120 haemorrhagic, 135 ischaemic, three coincident haemorrhagic/ischaemic) at or after the diagnosis of their primary intracranial tumour (71% benign, 29% malignant). Stroke incidence spiked at tumour diagnosis and subsequent months. Symptomatic intracranial haemorrhage was more commonly associated with malignant primary intracranial tumours. In-hospital mortality and level of disability at hospital discharge (median modified Rankin scale score, 4) were similar for patients with benign or malignant primary intracranial tumours. Stroke recurrence was 22% at one year. Statins were associated with reduced stroke recurrence (HR = 0.35 [95% CI 0.13-0.96]). The probability of patients with malignant tumours receiving chemotherapy was inversely related to disability at hospital discharge (ratio OR per unit increase modified Rankin scale = 0.65 [95% CI 0.42-0.96]).</p><p><strong>Conclusion: </strong>Stroke has wider consequences for patients with primary intracranial tumours than commonly recognised. Our data indicated that statins may help to prevent stroke recurrence. Despite concerns about intracranial haemorrhage, antiplatelet agents should be considered after ischaemic stroke.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"212"},"PeriodicalIF":4.8,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11832572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441106","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
Efficacy and safety of 4-aminopyridine in episodic ataxia type 2: a case series.
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-02-15 DOI: 10.1007/s00415-025-12941-4
Lorenzo Verriello, Sara Pez, Giada Pauletto, Mariarosaria Valente
{"title":"Efficacy and safety of 4-aminopyridine in episodic ataxia type 2: a case series.","authors":"Lorenzo Verriello, Sara Pez, Giada Pauletto, Mariarosaria Valente","doi":"10.1007/s00415-025-12941-4","DOIUrl":"10.1007/s00415-025-12941-4","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"205"},"PeriodicalIF":4.8,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425504","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
Anti-mitochondrial M2 antibody-positive myositis may be an independent subtype of autoimmune myositis.
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-02-15 DOI: 10.1007/s00415-025-12945-0
Yukako Nishimori, Jantima Tanboon, Munenori Oyama, Haruhiko Motegi, Yui Tomo, Mari Oba, Ai Yamanaka, Kazuma Sugie, Shigeaki Suzuki, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
{"title":"Anti-mitochondrial M2 antibody-positive myositis may be an independent subtype of autoimmune myositis.","authors":"Yukako Nishimori, Jantima Tanboon, Munenori Oyama, Haruhiko Motegi, Yui Tomo, Mari Oba, Ai Yamanaka, Kazuma Sugie, Shigeaki Suzuki, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino","doi":"10.1007/s00415-025-12945-0","DOIUrl":"10.1007/s00415-025-12945-0","url":null,"abstract":"<p><p>It is still unknown whether anti-mitochondrial M2 antibody (AM2A)-positive myositis is an independent subtype of autoimmune myositis (AIM). As such, the aim of this study is to better characterize the clinicopathological features in a large cohort of patients. This study utilized the muscle biopsy samples from AM2A-positive patients, which were sent to the National Center of Neurology and Psychiatry for diagnostic purposes from January 2008 to December 2020. The clinicopathologic information of 201 patients were compared with those who were diagnosed with immune-mediated necrotizing myopathy (IMNM), anti-synthetase syndrome, or dermatomyositis. AM2A-positive patients had the longest pre-biopsy disease duration (PBDD) at 48.7 ± 63.0 months and the highest frequency of arrhythmia of 51.1%. Necrotic and/or regenerating fibers were seen in 93.5% and membrane attack complex sarcolemmal deposits were noted in 43.3%, similar to IMNM. Furthermore, AM2A-positive patients with shorter PBDD showed more CD8-positive lymphocyte infiltrates. Clinically, shorter PBDD was associated with higher serum creatine kinase levels, whereas longer PBDD was associated with a higher frequency of arrhythmia. Principal component analysis separated disease groups with high weight of muscle pathology components on two-dimensional plotting, although AM2A-positive myositis and IMNM partly overlapped. On logistic regression model analysis, we obtained high sensitivity (0.846) and specificity (0.842) for distinguishing them using clinical and pathological variables. This largest cohort study suggests that AM2A-positive myositis may be an independent subtype of AIM characterized by a chronic myositis with IMNM-like pathology, along with a high prevalence of cardiac involvement and respiratory muscle weakness.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"206"},"PeriodicalIF":4.8,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425485","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
Clinical characteristics, molecular reclassification trajectories and DNA methylation patterns of long- and short-term survivors of WHO grade II and III glioma.
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-02-15 DOI: 10.1007/s00415-025-12923-6
Maximilian J Mair, Annette Leibetseder, Gerwin Heller, Erwin Tomasich, Lisa Müller, Ilka Busse, Adelheid Wöhrer, Barbara Kiesel, Georg Widhalm, Franziska Eckert, Serge Weis, Josef Pichler, Matthias Preusser, Anna S Berghoff
{"title":"Clinical characteristics, molecular reclassification trajectories and DNA methylation patterns of long- and short-term survivors of WHO grade II and III glioma.","authors":"Maximilian J Mair, Annette Leibetseder, Gerwin Heller, Erwin Tomasich, Lisa Müller, Ilka Busse, Adelheid Wöhrer, Barbara Kiesel, Georg Widhalm, Franziska Eckert, Serge Weis, Josef Pichler, Matthias Preusser, Anna S Berghoff","doi":"10.1007/s00415-025-12923-6","DOIUrl":"10.1007/s00415-025-12923-6","url":null,"abstract":"<p><strong>Purpose: </strong>The prognosis of diffuse gliomas previously classified as \"lower-grade\" is heterogeneous and complicates clinical decisions. We aimed to investigate the molecular profile of clinical outliers to gain insight into biological drivers of long and short-term survivors.</p><p><strong>Methods: </strong>Here, patients aged ≥ 18 years and diagnosed with diffuse glioma, WHO grade II/2 or III/3 were included. Short-term survivors (STS) were defined as overall survival (OS) < 1 years, and long-term survivors (LTS) as OS > 10 years. DNA methylation profiling was performed using the Illumina EPIC 850k platform.</p><p><strong>Results: </strong>In total, 385 patients (294 LTS, 91 STS) were included. Median overall survival was 234 months (95%CI: 207-248) in LTS and 7.3 months (95%CI: 6.4-8.1) in STS. Compared to STS, LTS were younger, had higher Karnofsky Performance Status, more extensive resections, and lower symptomatic burden (p < 0.001, respectively). Molecular reclassification showed IDH-mutant gliomas in 240/246 (95.5%) LTS and 10/79 (12.7%) STS. Initial diagnosis (tumor type and/or grading) changed in 69/325 (21.2%) patients based on reclassification according to WHO 2016 and in 45/258 (17.4%) as per WHO 2021. DNA methylation analysis indicated two clusters, one with mainly STS (39/41, 95.1%) and heterogeneous IDH-wildtype tumors (cluster A) and one with mainly LTS (82/106, 77.4%) and IDH-mutant tumors (cluster B). Functional enrichment analysis of rare subtypes indicated altered Hippo/Notch and synaptic/neurotransmitter signaling pathway members.</p><p><strong>Conclusion: </strong>LTS and STS show distinct clinical and molecular features, underscoring the importance of extended molecular workup for diagnosis. Further characterization of rare subtypes is needed to optimize treatment strategies and clinical trial planning.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"210"},"PeriodicalIF":4.8,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11829921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425489","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
Multiple sclerosis diagnosis and its differential diagnosis in patients presenting with type four 'mirror pattern' CSF oligoclonal bands.
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-02-15 DOI: 10.1007/s00415-025-12947-y
Damiano Marastoni, Monica Sicchieri, Francesca B Pizzini, Arianna Scartezzini, Federica Virla, Ermanna Turano, Daniela Anni, Maddalena Bertolazzo, Stefano Ziccardi, Valentina Camera, Agnese Tamanti, Maddalena Marini, Giuseppe Lippi, Bruno Bonetti, Andrew J Solomon, Massimiliano Calabrese
{"title":"Multiple sclerosis diagnosis and its differential diagnosis in patients presenting with type four 'mirror pattern' CSF oligoclonal bands.","authors":"Damiano Marastoni, Monica Sicchieri, Francesca B Pizzini, Arianna Scartezzini, Federica Virla, Ermanna Turano, Daniela Anni, Maddalena Bertolazzo, Stefano Ziccardi, Valentina Camera, Agnese Tamanti, Maddalena Marini, Giuseppe Lippi, Bruno Bonetti, Andrew J Solomon, Massimiliano Calabrese","doi":"10.1007/s00415-025-12947-y","DOIUrl":"10.1007/s00415-025-12947-y","url":null,"abstract":"<p><strong>Background: </strong>Presence of oligoclonal bands (OCBs) restricted to cerebrospinal fluid (CSF) characterizes most patients with multiple sclerosis (MS). Few data are available on the frequency of MS diagnosis and the main alternative diagnoses in patients with an initial central nervous system (CNS) demyelinating event and CSF IV pattern, the so-called 'mirror pattern'.</p><p><strong>Methods: </strong>Seventy-six patients presenting with OCBs pattern IV after a clinical attack suggestive of CNS demyelinating event were included in the study. Diagnostic work-up, including blood, CSF, and paraclinical examinations, and 2 years of clinical and radiological follow-up were evaluated.</p><p><strong>Results: </strong>Pattern IV occurred in 15.1% of patients. Twenty-five patients (32.8%) received a diagnosis of MS, thirty-two (42.1%) an alternative diagnosis, and nineteen (25%) remained without definite diagnosis. Most frequent alternative diagnosis was encephalopathy with atypical MRI lesions of probable vascular origin (19.7%). MS was significantly more common in patients with type IV OCB pattern (25 of 76) than in a group of patients presenting with type I OCB pattern (32 of 168, p = 0.017).</p><p><strong>Conclusion: </strong>The diagnosis of MS is common in patients who present with OCBs pattern IV. However, other CNS disorders, particularly vascular encephalopathy, should be carefully considered.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"207"},"PeriodicalIF":4.8,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11829897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425464","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
Variability of the Penn upper motor neuron score in amyotrophic lateral sclerosis: need for a revised score.
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-02-15 DOI: 10.1007/s00415-025-12895-7
Anna B Jacobsen, Gaia Fanella, Mamede de Carvalho, Martin Koltzenburg, Miguel Oliveira Santos, Bülent Cengiz, Jakob Blicher, Izabella Obál, Mia B Heintzelmann, Wilfred Nix, Jean-Philippe Camdessanché, Anders Fuglsang-Frederiksen, Hatice Tankisi
{"title":"Variability of the Penn upper motor neuron score in amyotrophic lateral sclerosis: need for a revised score.","authors":"Anna B Jacobsen, Gaia Fanella, Mamede de Carvalho, Martin Koltzenburg, Miguel Oliveira Santos, Bülent Cengiz, Jakob Blicher, Izabella Obál, Mia B Heintzelmann, Wilfred Nix, Jean-Philippe Camdessanché, Anders Fuglsang-Frederiksen, Hatice Tankisi","doi":"10.1007/s00415-025-12895-7","DOIUrl":"10.1007/s00415-025-12895-7","url":null,"abstract":"<p><p>There is a need for a consensus on a clinical scale for evaluating upper motor neuron (UMN) burden in amyotrophic lateral sclerosis (ALS) to improve consistency in clinical diagnosis, research and monitoring of disease progression. The Penn upper motor neuron score (PUMNS) is the most commonly published scale, however, the reliability of the scale has only been evaluated in a single study involving two raters. The objective of this study was to evaluate the inter-rater reliability of the PUMNS in ALS patients among multiple raters, and to discuss an updated UMN score including the signs with the highest inter-rater reliability. This study included seven ALS patients (mean age: 71 ± 11.5, six males, one female). Each patient was evaluated with the PUMNS by eight raters from different centers blinded to previous observations. The intra-class correlation coefficient (ICC) was calculated to assess the inter-rater reliability of the total PUMNS. The inter-rater reliability of the binary subscores was assessed with Gwet's AC1 coefficient. The inter-rater agreement for the total PUMNS yielded an ICC of 0.81 (95% CI 0.56;0.96). Items with the highest inter-rater reliability included Hoffman's sign, Babinski's sign, clonus and deep tendon reflexes, while the facial reflex (Gwet's AC1 -0.038 (95% CI -0.25,0.18)) and crossed adduction (0.18 (95% CI (-0.32,0.67)) had the lowest inter-rater reliability. In conclusion, PUMNS demonstrated good inter-rater reliability overall, while some of the subscores had poor inter-rater reliability. Based on this, we call for an updated UMN score to enhance diagnostic accuracy and research consistency in ALS.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"208"},"PeriodicalIF":4.8,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11829849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425473","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
Patisiran in ATTRv amyloidosis with polyneuropathy: "PatisiranItaly" multicenter observational study.
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-02-15 DOI: 10.1007/s00415-025-12950-3
Vincenzo Di Stefano, Pietro Guaraldi, Angela Romano, Giovanni Antonini, Alessandro Barilaro, Chiara Briani, Marco Burattini, Ilaria Cani, Giulia Carlini, Marco Ceccanti, Vittoria Cianci, Pietro Cortelli, Marco Currò Dossi, Daniela Di Lisi, Antonio Di Muzio, Yuri Falzone, Massimiliano Filosto, Sabrina Gasverde, Chiara Gemelli, Luca Gentile, Mariangela Goglia, Luca Leonardi, Simone Longhi, Antonio Lotti, Fiore Manganelli, Anna Mazzeo, Giammarco Milella, Giuseppina Novo, Silvia Fenu, Giovanni Palumbo, Cristina Petrelli, Loris Poli, Luca Guglielmo Pradotto, Massimo Russo, Alessandro Salvalaggio, Maria Ausilia Sciarrone, Luigi Sellitti, Matteo Tagliapietra, Stefano Tozza, Mara Turri, Lorenzo Verriello, Francesca Vitali, Filippo Brighina, Marco Luigetti
{"title":"Patisiran in ATTRv amyloidosis with polyneuropathy: \"PatisiranItaly\" multicenter observational study.","authors":"Vincenzo Di Stefano, Pietro Guaraldi, Angela Romano, Giovanni Antonini, Alessandro Barilaro, Chiara Briani, Marco Burattini, Ilaria Cani, Giulia Carlini, Marco Ceccanti, Vittoria Cianci, Pietro Cortelli, Marco Currò Dossi, Daniela Di Lisi, Antonio Di Muzio, Yuri Falzone, Massimiliano Filosto, Sabrina Gasverde, Chiara Gemelli, Luca Gentile, Mariangela Goglia, Luca Leonardi, Simone Longhi, Antonio Lotti, Fiore Manganelli, Anna Mazzeo, Giammarco Milella, Giuseppina Novo, Silvia Fenu, Giovanni Palumbo, Cristina Petrelli, Loris Poli, Luca Guglielmo Pradotto, Massimo Russo, Alessandro Salvalaggio, Maria Ausilia Sciarrone, Luigi Sellitti, Matteo Tagliapietra, Stefano Tozza, Mara Turri, Lorenzo Verriello, Francesca Vitali, Filippo Brighina, Marco Luigetti","doi":"10.1007/s00415-025-12950-3","DOIUrl":"10.1007/s00415-025-12950-3","url":null,"abstract":"<p><strong>Background: </strong>Hereditary amyloid transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, inherited, multisystemic, progressive adult-onset disease, affecting sensorimotor nerves, and various organs. It is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate, forming amyloid fibrils. Patisiran is a small, double-stranded interfering RNA encapsulated in a lipid nanoparticle, designed to enter hepatocytes and selectively target TTR mRNA to reduce both variant TTR and wild-type TTR (wt). This study presents a multicenter, real-life experience of patisiran's effectiveness and safety in ATTRv-PN.</p><p><strong>Methods: </strong>We enrolled genetically confirmed ATTRv-PN patients from 29 specialized Italian centers. All subjects underwent neurological assessments, including familial amyloid polyneuropathy (FAP) staging, the Neuropathy Impairment Score (NIS), quality-of-life assessment using the Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) questionnaire, and the Compound Autonomic Dysfunction Test (CADT). Additional assessments included baseline and follow-up measures of serum NT-proBNP and interventricular septal thickness.</p><p><strong>Results: </strong>A total of 181 ATTRv patients (69% male) were enrolled. Neurological onset was reported in 60.2% of cases. At baseline, 83.4% of patients exhibited multisystemic involvement, while only 16.6% presented isolated polyneuropathy. For approximately 70% of patients, patisiran was the first treatment; the remainder transitioned from tafamidis or inotersen. Following treatment, most patients demonstrated stabilization of neuropathy progression, regardless of baseline disease severity or genotype. The treatment was well-tolerated, with 90% of patients reporting no adverse events.</p><p><strong>Conclusion: </strong>Patisiran can be considered a valid therapeutic option for the management of patients with ATTRv amyloidosis. Considering its mechanism of action, similar outcomes could also be expected with the wider utilization of newly approved gene silencers for ATTRv therapy, such as vutrisiran.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"209"},"PeriodicalIF":4.8,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11829936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425468","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
Cessation of dream enacting behavior in REM sleep behavior disorder (RBD) following posterior cerebral artery infarction: implications for dreaming and RBD mechanisms.
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-02-13 DOI: 10.1007/s00415-025-12943-2
Ki-Young Jung, Seolah Lee, Dae-Sup Shin, Carlos H Schenck
{"title":"Cessation of dream enacting behavior in REM sleep behavior disorder (RBD) following posterior cerebral artery infarction: implications for dreaming and RBD mechanisms.","authors":"Ki-Young Jung, Seolah Lee, Dae-Sup Shin, Carlos H Schenck","doi":"10.1007/s00415-025-12943-2","DOIUrl":"10.1007/s00415-025-12943-2","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"204"},"PeriodicalIF":4.8,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414550","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信