Neurologia i neurochirurgia polska最新文献

{"title":"The association between smoking and Huntington's disease symptom onset and progression - results from Enroll-HD: The observational cohort study of people with Huntington's disease.","authors":"Grzegorz Witkowski, Daniel Zielonka, Rafał Rola, Halina Sienkiewicz-Jarosz","doi":"10.5603/pjnns.107176","DOIUrl":"10.5603/pjnns.107176","url":null,"abstract":"<p><strong>Aim of the study: </strong>To assess the impact of tobacco smoking on the onset of Huntington's disease (HD) and the progression of its motor and cognitive symptoms.</p><p><strong>Clinical rationale of the study: </strong>HD is an incurable neurodegenerative disorder. Therefore, identifying lifestyle factors with an impact of its progression is of particular interest. Tobacco smoking influences the course of neurodegenerative disorders. It has been shown to be a risk factor for dementia, but, on the contrary, seems to have a protective role in Parkinson's disease.</p><p><strong>Material and methods: </strong>This study used Periodic Dataset 4 of the Enroll-HD database, from which a cohort of 2,438 HD subjects (799 presymptomatic) with four consecutive annual visits (three years of observation) was extracted. Logistic regression models were used to assess the effect of lifetime smoking on progression to the symptomatic phase. In the premanifest, Cox proportional regression model was applied to estimate the hazard ratio of HD diagnosis for smokers and nonsmokers during the three-year observation period. Multivariate linear regression models were used to investigate the relationship between smoking and the progression of HD clinical measures.</p><p><strong>Results: </strong>It was found that current female smokers were at a higher risk of progressing to the symptomatic phase of HD than nonsmokers [hazard ratio (HR): 1.35, p = 0.023, 95% confidence interval (CI): 1.04-1.56]. For the symptomatic HD cohort, regardless of sex, smoking was associated with faster progression of motor symptoms, as measured by the Total Motor Score (p = 0.035, 95% CI: 0.04-0.9), as well as cognitive impairment, as measured by the Stroop Word Reading test (p = 0.04, 95% CI: 0.1-0.9).</p><p><strong>Conclusions and clinical implications: </strong>It was presented that lifetime and current smoking are environmental factors that may be associated with an increased risk of HD progression, particularly in female HD gene carriers. This supports the recommendation that HD mutation carriers avoid smoking.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"83-91"},"PeriodicalIF":2.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145286587","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 Mayo Clinic Faculty Teaching Courses in Poland.","authors":"Joanna Siuda, Grzegorz Opala, Zbigniew K Wszolek","doi":"10.5603/pjnns.110337","DOIUrl":"https://doi.org/10.5603/pjnns.110337","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":"60 2","pages":"121-123"},"PeriodicalIF":2.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147777274","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":"Herpes zoster and multiple sclerosis disease modifying therapies.","authors":"Alicja Kalinowska","doi":"10.5603/pjnns.111290","DOIUrl":"10.5603/pjnns.111290","url":null,"abstract":"<p><p>Not available.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"248-249"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147468592","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":"Adding continuous infusion therapies after bilateral subthalamic deep brain stimulation in advanced Parkinson's disease: clinical outcomes and quality of life assessment in a case series.","authors":"Stanisław Szlufik, Karolina Jaros, Łukasz Milanowski, Tomasz Mandat, Dariusz Koziorowski","doi":"10.5603/pjnns.107157","DOIUrl":"10.5603/pjnns.107157","url":null,"abstract":"<p><p>Parkinson's disease (PD) is a progressive neurodegenerative disorder that primarily presents with motor and non-motor symptoms and significantly affects patients' quality of life (QoL). Although bilateral subthalamic nucleus deep brain stimulation (STN DBS) is recognized as an effective advanced treatment (AT), disease progression may lead to diminished therapeutic outcomes, with recurrence of motor complications, including dyskinesia and fluctuations. This study evaluates the clinical effectiveness and QoL outcomes associated with adding a second advanced therapy (either levodopa-carbidopa intestinal gel [LCIG] or continuous subcutaneous apomorphine infusion [CSAI]) to bilateral STN DBS in six patients experiencing symptom recurrence despite optimized stimulation settings and oral pharmacotherapy. Clinical assessments included motor performance (UPDRS part III), medication dosage (LEDD), electrode positioning using Lead-DBS software, and patient-reported QoL outcomes (EQ- -5D, PDQ-39, PDSS-1, and VAS scales). Four patients demonstrated motor improvement following the introduction of dual therapy. Combined therapies effectively managed refractory symptoms, reduced medication dosages, and significantly enhanced patients' quality of life. This study highlights the clinical potential of integrating multiple advanced therapeutic approaches in managing complex cases of advanced Parkinson's disease.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"300-309"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147931989","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":"Exploring the phenotypic spectrum of frontotemporal lobar degeneration.","authors":"Jiya Patel, Samantha R Eisenberg-Godsey, Philip W Tipton","doi":"10.5603/pjnns.109796","DOIUrl":"10.5603/pjnns.109796","url":null,"abstract":"<p><p>Frontotemporal lobar degeneration (FTLD) refers to a spectrum of neuropathology preferentially affecting the frontal and temporal lobes manifesting with progressive behavioral, language, and motor impairment. These clinical symptoms linked to FTLD are collectively referred to as frontotemporal spectrum disorders (FTSD) and include behavioral-variant frontotemporal dementia, nonfluent/agrammatic primary progressive aphasia, semantic variant primary progressive aphasia, right temporal variant frontotemporal dementia, corticobasal syndrome, progressive supranuclear palsy, and amyotrophic lateral sclerosis-frontotemporal spectrum disorders. While some patients with FTLD present with a single, well-defined syndrome, others exhibit features of multiple syndromes, and clinical phenotypes frequently evolve over time. Moreover, there is substantial phenotypic overlap between FTSD and other neurological disorders, contributing to frequent misdiagnosis and diagnostic delays. To address these challenges, we provide a practical, clinically oriented framework for the diagnosis of FTSD. We review common and nuanced clinical features, pertinent diagnostic testing, and the role of genetic testing in the context of current understanding of neuropathological correlates. Despite the absence of disease-modifying therapies, we also outline evidence-informed strategies for the symptomatic management of FTSD.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"138-152"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147675339","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":"Epidemiological perspective of Parkinson's disease - possible modifying factors.","authors":"Piotr Alster, Natalia Madetko-Alster","doi":"10.5603/pjnns.112622","DOIUrl":"10.5603/pjnns.112622","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"389-391"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148448374","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 underrated value of non-motor symptoms of Parkinson's disease in making diagnostic and treatment decisions.","authors":"Jarosław Sławek, Jakub Radziwon","doi":"10.5603/pjnns.110793","DOIUrl":"10.5603/pjnns.110793","url":null,"abstract":"<p><p>Parkinson's disease (PD) is identified clinically by the presence of prominent motor signs; however, in recent years there has been growing recognition of non-motor symptoms (NMS) causing a similar or even greater impact on patients' quality of life. Wide spectrum of non-motor problems includes cognitive, neuropsychiatric, sensory, gastrointestinal, urinary, and cardiovascular issues, among others. Some of them are integral parts of the disease, while others may be side effects of applied therapies. Non-motor symptoms like hyposmia, cognitive decline, autonomic symptoms, and sleep disorders may indicate specific PD subtypes or signal prodromal disease before the appearance of motor parkinsonian signs. The burden of NMS increases with disease progression, but early presence of autonomic failure, hallucinations, or cognitive impairment points toward atypical parkinsonian syndromes. Non-motor symptoms significantly limit the possibility of applying certain pharmacological, surgical, and infusion therapies. Orthostatic hypotension (OH), impulse control disorder, or increased sleepiness are contraindications for use of dopamine agonists (DAs) and apomorphine infusion. Medications with anticholinergic properties may exacerbate existing cognitive and gastrointestinal problems. Moreover, neuropsychiatric problems with dementia, depression, and hallucinations may exclude patients from receiving deep brain stimulation (DBS), apomorphine, and levodopa/carbidopa or foslevodopa/ /foscarbidopa (LDp/CDp) infusions. While NMS are not routinely assessed by diagnostic criteria and standard tools during PD therapy, they should be carefully evaluated at every step of PD management. In this review, we summarize the underrated role of NMS in PD diagnosis and therapy planning and discuss potential measures to better address them.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"179-187"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147284593","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":"Revised recommendations of the Polish Medical Society of Radiology and the Polish Neurological Society for a protocol concerning routinely used magnetic resonance imaging in patients with multiple sclerosis.","authors":"Malgorzata Siger, Marcin Hartel, Agata Majos, Alicja Kalinowska, Monika Adamczyk-Sowa, Jerzy Walecki, Joanna Bladowska, Mariusz Stasiołek, Elżbieta Jurkiewicz, Barbara Steinborn, Ewa Kluczewska, Zbigniew Serafin, Edyta Szurowska, Waldemar Brola, Sławomir Wawrzyniak, Bartosz Karaszewski, Dagmara Mirowska-Guzel, Monika Nojszewska, Alina Kułakowska, Halina Bartosik-Psujek, Katarzyna Karmelita Katulska","doi":"10.5603/pjnns.111496","DOIUrl":"10.5603/pjnns.111496","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a chronic immune-mediated inflammatory demyelinating disease of the central nervous system (CNS), the exact etiology of which remains unknown. The pathological hallmark of MS involves CNS tissue damage characterized by dissemination in space (DIS) and dissemination in time (DIT). Magnetic resonance imaging (MRI) represents the most sensitive paraclinical tool for detection, diagnosis, and longitudinal monitoring of MS, playing a crucial role in treatment decision-making. The recently published 2024 McDonald criteria, incorporating advances in MR acquisition and post-processing techniques, necessitate revision of current MRI protocols used in routine clinical practice. These updated criteria expand the definition of typical MS lesion locations to include the optic nerves and introduce novel MRI biomarkers - the central vein sign (CVS) and paramagnetic rim lesions (PRLs) - which enhance diagnostic specificity and differential diagnosis. This manuscript presents the third version of recommendations developed by the Polish Medical Society of Radiology and the Polish Neurological Society for standardized MRI examination protocols in patients with MS. These evidence-based recommendations incorporate contemporary technical advances, provide practical guidance for radiographers and radiologists, and aim to standardize imaging procedures across all MRI departments in Poland. Implementation of this protocol is essential for establishing reliable diagnoses, ensuring adequate disease monitoring, and supporting critical clinical decisions regarding treatment initiation and modification.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"273-280"},"PeriodicalIF":3.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147691286","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":"A first report of successful transition from foslevodopa/foscarbidopa infusion to levodopa/carbidopa intestinal gel therapy after severe psychosis: a gateway opened by continuous dopaminergic stimulation.","authors":"Khin Chew Chew Naing, Kiku Uwatoko, Hiromu Minagawa, Yukiko Nagaishi, Motohiro Yukitake, Shinsuke Fujioka","doi":"10.5603/pjnns.110254","DOIUrl":"10.5603/pjnns.110254","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"100-102"},"PeriodicalIF":2.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113814","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":"Uncommon yet impactful - case-based reflections on rare neurologic disorders.","authors":"Tomasz Chmiela, Zbigniew K Wszolek","doi":"10.5603/pjnns.108495","DOIUrl":"10.5603/pjnns.108495","url":null,"abstract":"<p><p>Rare diseases (RDs) are a heterogeneous group of disorders defined by their low prevalence - affecting fewer than 1 in 2,000 individuals in Europe and fewer than 200,000 people in the US. Although individually uncommon, rare diseases collectively impact an estimated 263 to 446 million people worldwide. Early recognition and diagnosis remain major challenges, particularly in neurology, where overlapping phenotypes and limited awareness often delay appropriate management. We present 3 illustrative case studies highlighting the diagnostic and therapeutic complexities associated with rare neurologic disorders. The first case describes a patient with CSF1R-related disorder; diagnosis was significantly delayed due to initial misattribution of symptoms to traumatic brain injury. This delay ultimately precluded timely intervention with disease-modifying therapies such as hematopoietic stem cell transplantation. The second case involves a patient with frontotemporal dementia and parkinsonism linked to chromosome 17 with a pathogenic c.837T>G, p.N279K variant in the MAPT gene, also known as pallidopontonigral degeneration. Although a strong family history facilitated early diagnosis, the case underscores the broader challenges of managing hereditary neurodegenerative diseases within affected families. The third case presents an exceptionally rare scenario of dual pathogenic mutations in ATXN3 and ATXN8OS, resulting in concurrent diagnoses of spinocerebellar ataxia types 3 and 8. This case exemplifies the clinical ambiguity and interpretive difficulty posed by co-occurring rare variants with overlapping symptomatology. Collectively, these 3 cases emphasize the importance of accurate, timely diagnosis to avoid unnecessary testing in rare neurologic diseases. Timely recognition enables access to emerging personalized therapies and support systems.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"188-194"},"PeriodicalIF":2.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145505955","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}