Neurologia i neurochirurgia polska最新文献

{"title":"Successful mechanical thrombectomy for massive cerebral venous sinus thrombosis.","authors":"Milena Polewka, Aleksandra Krzan-Bosaczyk, Michał Borończyk, Witold Tomalski, Łukasz Binek, Anetta Lasek-Bal","doi":"10.5603/pjnns.108559","DOIUrl":"10.5603/pjnns.108559","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"376-378"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145990170","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":"Clinical and genetic characteristics of CANVAS patients: a single-center experience.","authors":"Pavol Skacik, Egon Kurca, Stefan Sivak","doi":"10.5603/pjnns.110088","DOIUrl":"10.5603/pjnns.110088","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"386-387"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147390576","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":"Optic nerve pathologies in multiple sclerosis based on the new McDonald criteria 2024.","authors":"Barbara Gębka-Kępińska, Jan Majchrzak, Joanna Bączyk, Dorota Gębka, Natalia Morawiec, Monika Adamczyk-Sowa","doi":"10.5603/pjnns.109311","DOIUrl":"10.5603/pjnns.109311","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system (CNS) characterized by demyelination, gliosis, and neurodegeneration. One of the most frequent and often initial manifestations of MS is optic neuritis (ON), occurring in about 25% of patients as the first symptom and in up to 50% during the disease course. The 2024 revision of the McDonald criteria introduced a major change by including the optic nerve as the fifth anatomical location demonstrating dissemination in space (DIS), thereby enhancing the diagnostic sensitivity of MS. Optic nerve involvement can now be confirmed through structural (magnetic resonance imaging [MRI], optical coherence tomography [OCT]) and functional tests (visual evoked potentials [VEP]), which allow detection of both clinical and subclinical demyelinating lesions. The diagnostic and classification framework proposed by Petzold et al. (2022) integrates clinical presentation, paraclinical evidence, and serological biomarkers, improving differentiation between autoimmune etiologies such as MS, neuromyelitis optica spectrum disorder (NMOSD), and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). The recognition of ON as an independent diagnostic region in the 2024 McDonald criteria represents a significant step forward in early MS diagnosis and in the initiation of disease-modifying therapies, ultimately improving long-term prognosis and patients' quality of life.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"346-354"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147593404","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":"Highlighting the CSF1R mutational spectrum: c.2549C>T variant in late-onset leukoencephalopathy mimicking multiple sclerosis.","authors":"Valeria Babak-Jeziorska, Magdalena Badura-Stronka, Joanna Pawlak, Karolina Kania, Kamila Żur-Wyrozumska, Elżbieta Tokarz-Kupczyk","doi":"10.5603/pjnns.112818","DOIUrl":"10.5603/pjnns.112818","url":null,"abstract":"<p><strong>Introduction: </strong>Late-onset CSF1R-related disorder is an ultra-rare neurogenetic disorder caused by pathogenic variants in the colony-stimulating factor 1 receptor (CSF1R) gene. Due to the rapid disease progression and rapid deterioration of neuropsychological status of affected individuals, prompt and accurate diagnosis is essential. This report aims to highlight the need for clinicians to consider this differential diagnosis in patients with a rapidly progressive clinical course of multiple sclerosis (MS).</p><p><strong>Material and methods: </strong>We report the case of an adult male presenting with rapidly progressive neurological deficits initially attributed to MS. Serial neuroimaging demonstrated progressive enlargement of hyperintense white matter lesions, correlating with marked clinical deterioration despite ongoing treatment. Genetic evaluation performed because of the aggressive disease course revealed a previously reported in a single patient variant in the CSF1R gene (c.2549C > T; p.Ser850Leu), located within the critical tyrosine kinase domain (TKD) of the receptor. In silico analysis, together with the patient's clinical phenotype, supported classification of this variant as likely pathogenic.</p><p><strong>Conclusion: </strong>This case underscores the importance of considering CSF1R-related disorder not only in the differential diagnosis of adult-onset leukoencephalopathies but also in patients with rapidly progressive MS-like disease. Identification and characterization of novel variants contribute to expanding genotype-phenotype correlations in late-onset CSF1R-related disorder and highlight the crucial role of genetic testing in atypical MS cases.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"252-260"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148308899","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":"Aseptic meningitis as a rare adverse event associated with concurrent nivolumab and ipilimumab therapy.","authors":"Klaudia Nowak, Julia Nicińska, Małgorzata Żurek, Grzegorz Chmielewski, Rafał Stando","doi":"10.5603/pjnns.113267","DOIUrl":"https://doi.org/10.5603/pjnns.113267","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":"60 4","pages":"502-504"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840668","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":"Headaches in Parkinson's disease: a comprehensive review.","authors":"Magdalena Boczarska-Jedynak","doi":"10.5603/pjnns.110865","DOIUrl":"10.5603/pjnns.110865","url":null,"abstract":"<p><p>Headaches are common but underrecognized non-motor symptoms in Parkinson's disease (PD). They may appear as primary headaches, secondary headaches or as a part of PD-related nociceptive and neuroplastic pain syndromes. The prevalence of headaches in PD varies widely, with observational studies suggesting that up to 49% of patients report headaches, including tension-type headaches (TTH) and migraines. Headaches related to PD may present prodromally, occur during motor fluctuations or as a side effect of dopaminergic therapy. This review summarizes the epidemiology, classification, pathophysiology and clinical management of headaches in PD, with an emphasis on evidence from population-based cohort studies, imaging research, and clinical observations.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"394-398"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147593424","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":"Myasthenia gravis and myocarditis induced by immune checkpoint inhibitors: a case report.","authors":"Paulina Świętoń, Jakub Słoń, Paulina Matys, Dominika Jakubowicz-Lachowska, Monika Chorąży, Jan Kochanowicz, Alina Kułakowska, Katarzyna Kapica-Topczewska","doi":"10.5603/pjnns.112009","DOIUrl":"10.5603/pjnns.112009","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"499-501"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147948888","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":"Genetic screening for CSF1R variants in patients with dementia, parkinsonism, and multiple sclerosis.","authors":"Paweł Tacik, Tomasz Chmiela, Matthew Baker, Audrey J Strongosky, Eunmi Lee, Yonghe Li, Takahisa Kanekiyo, Neill R Graff-Radford, Sean J Pittock, Zbigniew K Wszolek","doi":"10.5603/pjnns.111537","DOIUrl":"10.5603/pjnns.111537","url":null,"abstract":"<p><strong>Aim of the study: </strong>To determine the frequency of colony-stimulating factor 1 receptor gene (CSF1R) variants in a cohort of Mayo Clinic patients with different neurodegenerative disorders.</p><p><strong>Material and methods: </strong>Blood samples collected from patients diagnosed in the past five years with early-onset (18-60 years) cognitive impairment, atypical parkinsonism and primary progressive multiple sclerosis (PPMS) were screened for variants in the CSF1R gene using Sanger sequencing. For individuals with CSF1R variants, clinical data were analyzed. An online tool, SIFT (https://sift.bii.a-star.edu.sg/), was applied to predict possible impact of CSF1R variants. Moreover, the identified CSF1R variants were expressed in HEK293 cells, and their effects on CSF1R phosphorylation were assessed by western blotting.</p><p><strong>Results: </strong>Samples from 310 patients with dementia (n = 135), PPMS (n = 96) and atypical parkinsonism (n = 79) were analyzed. Two novel CSF1R variants in the heterozygous state were identified: p.G872V (c.2615G > T) in a 60-year-old male with atypical parkinsonism and moderate microangiopathic leukoencephalopathy on MRI and p.K864Q (c.2590A > C) in a 45-year-old female with behavioral variant of frontotemporal lobar degeneration with extensive tau pathology who died by suicide. The latter patient was also a carrier of a MAPT gene mutation: p.N279K; c.837T > G. SIFT analysis predicted both CSF1R variants to be deleterious. Both patients had a positive family history for dementia. In vitro studies confirmed that both CSF1R p.K864Q and p.G872V variants disturbed CSF1R phosphorylation with a stronger effect for CSF1R p.G872V.</p><p><strong>Conclusions and clinical implications: </strong>CSF1R-related disorder (RD) is often mis- and underdiagnosed. Genetic testing for CSF1R-RD should be applied more often in cases of early-onset neurodegenerative disorders with a combination of cognitive, psychiatric, and motor symptoms and a positive family history.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"360-365"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148218888","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":"Diagnostics and treatment advancements in neurodegenerative, neuroimmunological disorders and migraine - proceedings of the 9th Mayo Clinic Neurology Faculty Teaching Course.","authors":"Joanna Siuda","doi":"10.5603/pjnns.112174","DOIUrl":"https://doi.org/10.5603/pjnns.112174","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":"60 2","pages":"124-127"},"PeriodicalIF":2.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147777346","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":"Genotype-associated outcomes after deep brain stimulation in Parkinson's disease: a systematic review, meta-analysis and epigenetic implications.","authors":"Bartosz Limanówka, Dagmara Lisman, Leszek Sagan","doi":"10.5603/pjnns.110289","DOIUrl":"10.5603/pjnns.110289","url":null,"abstract":"<p><strong>Introduction: </strong>Deep brain stimulation (DBS) is an established treatment for advanced Parkinson's disease (PD), but outcomes in genotype-defined PD remain debated. GBA1 variants are associated with faster cognitive decline, while their impact on DBS motor benefit is less clear.</p><p><strong>State of the art: </strong>To assess whether DBS motor response differs by genotype in PD by pooling change in Unified Parkinson's Disease Rating Scale III (UPDRS III) (medication-OFF) from baseline to the first postoperative follow-up (T1, ~12 months). Secondary objectives were to summarise cognitive and quality-of-life outcomes after DBS across genotypes using structured narrative synthesis and to determine whether any clinical evidence links epigenetic biomarkers to DBS outcomes.</p><p><strong>Material and methods: </strong>PubMed and Embase were searched (1 January 2000 to 3 November 2025). Eligible studies reported pos toperative outcomes stratified by GBA1, LRRK2 or PRKN carrier status in DBS-treated PD (any target). The primary endpoint was change in UPDRS III in the medication-OFF state from baseline to T1. A random-effects meta-analysis pooled genotype- -defined comparisons of variant carriers vs. non-carriers; because evidence was dominated by GBA1 cohorts, LRRK2/PRKN findings were summarised descriptively. A scoping search was performed for clinical epigenetic biomarker studies in DBS-treated PD.</p><p><strong>Results: </strong>Eleven studies were included. Quantitative synthesis of five datasets (UPDRS III medication-OFF) showed no significant difference in motor improvement between variant carriers and non-carriers [standardised mean difference (SMD) = -0.124, 95% confidence interval (CI): -0.331 to 0.083; I2 = 22.3%). Similar non-significant results were observed for the medication-ON state. Cognitive and quality-of-life outcomes could not be pooled due to heterogeneous reporting; narrative synthesis suggested earlier cognitive decline in GBA1 carriers vs. non-carriers despite comparable short-term motor benefit. No clinical studies linking epigenetic biomarkers to DBS outcomes were identified.</p><p><strong>Conclusions: </strong>At approximately 12 months, motor improvement after DBS appears broadly comparable between genotype- -defined variant carriers and non-carriers, with the most consistent evidence available for GBA1. Inference - particularly for cognition and quality of life - is constrained by gene/variant heterogeneity, observational study design, and the predominance of subthalamic nucleus-DBS (STN-DBS) cohorts. Clinical epigenetic predictors of DBS response remain unstudied, supporting the need for hypothesis-driven, genotype-stratified biomarker cohorts.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"410-419"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147444435","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}