Neurologia i neurochirurgia polska最新文献

{"title":"CANVAS as example of genetic and clinical complexity of RFC1-related disorders.","authors":"Filip Tomczuk, Anna Sulek, Piotr Janik","doi":"10.5603/pjnns.103747","DOIUrl":"https://doi.org/10.5603/pjnns.103747","url":null,"abstract":"<p><p>Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a late-onset, autosomal recessive neurodegenerative disorder characterised by the triad of cerebellar ataxia, bilateral vestibular areflexia, and sensory neuropathy. First identified more than 30 years ago, its clinical phenotype has since expanded to include chronic cough, dysautonomia, and pain, with isolated neuronopathy reported in some cases. The discovery of biallelic AAGGG repeat expansions in intron 2 of the RFC1 gene in 2019 established the genetic basis for CANVAS, with the pathogenic expansions disrupting gene function via secondary structures such as G-quadruplexes. Despite this breakthrough, the precise pathophysiological mechanisms behind CANVAS remain elusive, necessitating further research into the molecular, clinical, and genetic aspects of this disease. This review consolidates the current understanding of CANVAS, encompassing the expanding spectrum of RFC1-related disorders, clinical manifestations, molecular underpinnings, and epidemiology, while exploring future directions for diagnostics and therapeutic advancements.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021205","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":"Predictors for long-term incomplete nidus obliteration following stereotactic radiosurgery for brain arteriovenous malformations: a systematic review and meta-analysis.","authors":"Maurycy Rakowski, Natalia A Koc, Samuel D Pettersson, Tomasz Klepinowski, Piotr Zieliński, Tomasz Szmuda","doi":"10.5603/pjnns.103718","DOIUrl":"10.5603/pjnns.103718","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to identify predictive factors for long-term incomplete nidus obliteration following stereotactic radiosurgery (SRS) for brain arteriovenous malformations (AVMs).</p><p><strong>Material and methods: </strong>A systematic search across the PubMed, Web of Science, and Scopus databases identified observational studies reporting such factors. Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. The study protocol was registered through PROSPERO. Each eligible study's quality was assessed using the modified Newcastle-Ottawa Scale. Odds ratios (ORs) were calculated for dichotomous parameters.</p><p><strong>Results: </strong>Two high-quality prospective cohort and three high-quality retrospective cohort studies were included, covering patients with complete (n = 638) and incomplete (n = 297) nidus obliteration. The mean age of the patients was 25.54 ± 12.81 years and the mean follow-up time was 95.98 ± 27.64 months. Predictors for incomplete obliteration of nidus included: AVM classified as Spetzler-Martin (SM) grade ≥ IV (odds ratio (OR) 10.57, 95% confidence interval (CI) 2.00-55.96, p = 0.006), the presence of multiple (> 1) feeding arteries (OR 6.47, 95% CI 2.20-19.10, p = 0.0007), nidus volume > 10 mL (OR 5.08, 95% CI 1.68-15.33, p = 0.004), and the occurrence of intranidal aneurysm (OR 3.33, 95% CI 1.10-10.08, p = 0.03). No statistically significant difference in proportions of patients with incomplete nidus obliteration was found between paediatric (≤ 18 years) and adult (> 18) patient cohorts (p = 0.95).</p><p><strong>Conclusions: </strong>The following factors were found to be predictive for long-term incomplete nidus obliteration post-SRS for brain AVMs: SM grade equal to or higher than IV; the presence of multiple feeding arteries; AVM nidus volume exceeding 10 mL; and the occurrence of intranidal aneurysm. These findings will be beneficial in refining patient selection for radiosurgical treatment.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"153-162"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143616431","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":"Response to: DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome.","authors":"Karol Chojnowski, Kamil Dzwilewski, Magdalena Krygier, Marta Zawadzka, Maria Mazurkiewicz-Bełdzińska","doi":"10.5603/pjnns.103974","DOIUrl":"10.5603/pjnns.103974","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"90-91"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008826","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":"Does botulinum toxin type A treatment influence non-motor symptoms in cervical dystonia patients? A systematic review.","authors":"Małgorzata Dudzic, Anna Pieczyńska, Artur Drużdż, Katarzyna Hojan","doi":"10.5603/pjnns.102672","DOIUrl":"10.5603/pjnns.102672","url":null,"abstract":"<p><p>The effect of botulinum toxin A (BoNTA) on non-motor symptoms (NMS) in patients with cervical dystonia remains an area of significant clinical interest, given the profound impact of these symptoms on patients' quality of life. While the therapeutic efficacy of BoNTA in alleviating motor symptoms of cervical dystonia is well established, its impact on NMS such as depression, anxiety disorder, and sleep disturbance requires further investigation. This systematic review synthesizes the latest evidence on the effects of BoNTA on these selected non-motor symptoms. A comprehensive search of the PubMed, Web of Science, and Scopus databases identified 266 articles, of which eight studies met our strict inclusion criteria. Pre- and post-intervention changes in depression, anxiety, and sleep disturbance were assessed in a total of 280 adult patients with cervical dystonia treated with BoNTA. The results indicate that BoNTA has a positive effect on depressive symptoms, with most studies showing a statistically significant improvement after treatment. Similarly, studies are reporting significant reductions in anxiety scores following BoNTA treatment. However, the effects of this treatment method on sleep disturbances were less conclusive, with none of the reviewed studies showing significant improvements in sleep quality or daytime sleepiness. The results highlight the potential of BoNTA to positively influence non-motor symptoms, particularly depression and anxiety, in patients with cervical dystonia, although its effects on sleep remain unclear. These findings underscore the need for further research to fully understand the mechanisms underlying the non-motor effects of BoNTA and to develop comprehensive treatment strategies.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"144-152"},"PeriodicalIF":2.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414238","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":"John Cunningham virus as cause of progressive multifocal leukoencephalopathy.","authors":"Teresa Wierzba-Bobrowicz, Sylwia Tarka, Paulina Felczak, Marcin Rylski, Tomasz Stępień, Halina Sienkiewicz-Jarosz, Albert Acewicz","doi":"10.5603/pjnns.102395","DOIUrl":"10.5603/pjnns.102395","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"84-87"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066992","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":"From rarity to reality: Poland's first case of neurological Erdheim-Chester Disease with cerebellar manifestations.","authors":"Konrad Kaleta, Kamil Możdżeń, Agnieszka Murawska, Żaneta Chatys-Bogacka, Karolina Porębska, Małgorzata Dec-Ćwiek","doi":"10.5603/pjnns.103976","DOIUrl":"10.5603/pjnns.103976","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"88-89"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008758","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":"Biomarkers of neurodegenerative parkinsonisms: From current clinical to future biological definitions - literature review and our experience.","authors":"Carla Brenlla, Carlos Lazaro-Hernandez, Manel Fernandez, Jesica Perez-Montesino, Lorena de Mena, Nuria Bargallo, Veronica Sanchez, Andres Perissinotti, Aida Niñerola-Baizan, Alexandra Perez-Soriano, Celia Painous, Ana Cámara, Yaroslau Compta","doi":"10.5603/pjnns.104070","DOIUrl":"https://doi.org/10.5603/pjnns.104070","url":null,"abstract":"<p><p>Over recent decades, the search for sensitive and specific biomarkers of degenerative parkinsonisms has intensified. So also has the number of clinical trials aimed at disease modification and the subsequent need for improved recruitment of participants in the earliest possible stages and with the highest diagnostic certainty. Also increasing in number have been searches for ways to determine target engagement and biological effect, along with tracking of disease progression or its modification. With post mortem neuropathological confirmation remaining the most definite diagnostic category for most conditions, the updated diagnostic criteria are slowly introducing some routine biomarkers as supportive tools, mostly related to symptoms such as loss of smell in Parkinson's Disease (PD) or demonstration of REM sleep behaviour disorders in both PD and multiple system atrophy (MSA), or structural or functional (chiefly dopaminergic) imaging, which sometimes lacks either sensitivity or specificity [specific MRI signs for MSA or progressive supranuclear palsy (PSP)]. However, potential new tools such as seed amplification assays (SAAs) and PET imaging of underlying alpha-synuclein and 4R-tau pathologies, while not without their own challenges, are being increasingly seen as the next generation of diagnostic tools. In this setting, proposals to biologically define these conditions, primarily for research purposes (which might eventually include clinical trials) are emerging. In this review, we aimed to overview of the current use of routine biomarkers and any future promise of biological definition by molecular markers tracking underlying pathology.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":"59 2","pages":"97-110"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036629","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":"Levodopa and dopamine agonist phobia in Parkinson's Disease - does it really matter? A survey on treatment patterns in Polish tertiary centres.","authors":"Jakub Kasprzak, Jarosław Dulski, Filip Przytuła, Dariusz Koziorowski, Magdalena Kwaśniak-Butowska, Witold Sołtan, Anna Roszmann, Katarzyna Śmiłowska, Michał Schinwelski, Jarosław Sławek","doi":"10.5603/pjnns.103168","DOIUrl":"10.5603/pjnns.103168","url":null,"abstract":"<p><strong>Aim of study: </strong>To investigate the treatment strategies of Parkinson's Disease (PD) among movement disorder specialists in tertiary centres in Poland, and how literature warnings (levodopa and dopamine agonist phobia) have influenced their practice.</p><p><strong>Material and methods: </strong>The survey was conducted between 30 November, 2020 and 18 October, 2021, in four Polish tertiary referral centres for PD (two in Gdansk, one in Sosnowiec, and one in Warsaw). Movement disorder specialists collected information on the treatment of 494 consecutive patients diagnosed with PD. The questionnaire included information on the age of the patient, the duration of PD, the Hoehn&Yahr (H&Y) stage, comorbidities, pharmacotherapy, and advanced PD therapies i.e. deep brain stimulation (DBS), levodopa/carbidopa intestinal gel (LCIG), and continuous subcutaneous apomorphine infusions (CSAI).</p><p><strong>Results: </strong>Levodopa was the most prescribed medication (n = 465/494), followed by dopamine agonists (n = 292/494). The mean dose of levodopa was 810.58 ± 473.11 mg, and it did not exceed 2,000 mg/d in 98.5% of patients. The mean doses of dopamine agonists used were relatively low (ropinirole 8.64 ± 3.94 mg, pramipexole base 1.76 ± 0.65mg). Amantadine (n = 197/494) and MAO-B inhibitors (n = 202/494) were prescribed less frequently. Catechol-o-methyltransferase (COMT) inhibitors (n = 7/494) and anticholinergics (n = 4/494) were rarely used in the studied population. Complex polytherapy with three or more PD medications was the most often used treatment strategy (n = 223/494).</p><p><strong>Conclusions and clinical implications: </strong>Levodopa remains the gold standard in PD treatment in tertiary movement disorder centres in Poland. Dopamine agonists formed the second most frequently prescribed group of medications; however, the observed low dosages of both levodopa and dopamine agonists may suggest a cautious approach by clinicians. Amantadine and MAO-B inhibitors (mainly rasagiline) constituted important elements of PD pharmacotherapy. The high prevalence of complex polytherapy underlines the complexity of PD management, the cautious use of single medication at high doses, and the need for personalised therapeutic strategies.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"62-69"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143502870","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":"Response to Letter to the Editors entitled 'Neurotoxicity of levodopa/carbidopa intestinal gel preparations can cause polyneuropathy in Parkinson's patients'.","authors":"Petra Havránková, Robert Jech","doi":"10.5603/pjnns.105446","DOIUrl":"10.5603/pjnns.105446","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"191-192"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795805","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 prevention in multiple sclerosis and neuromyelitis optica spectrum disorders.","authors":"Dagmara Mirowska-Guzel, Monika Nojszewska, Jerzy Jaroszewicz, Alicja Kalinowska, Alina Kułakowska, Justyna Ledwoch, Ilona Małecka, Aneta Nitsch-Osuch, Konrad Rejdak, Mariusz Stasiołek, Halina Bartosik-Psujek, Waldemar Brola, Agnieszka Mastalerz-Migas, Sławomir Wawrzyniak, Jacek Wysocki, Beata Zakrzewska-Pniewska, Monika Adamczyk-Sowa","doi":"10.5603/pjnns.102908","DOIUrl":"10.5603/pjnns.102908","url":null,"abstract":"<p><p>A working group convened by the Section of Multiple Sclerosis and Neuroimmunology of the Polish Neurological Society, the Polish Society of Family Medicine, and the Polish Society of Vaccinology has developed a consensus on supplementary data to the recommendations of the expert group of the Polish Society of Vaccinology, the Polish Society of Family Medicine, the Polish Dermatological Society, the Polish Association for the Study of Pain, and the Polish Neurological Society, and ECTRIMS/EAN of 2023 with regard to the currently available in Poland recombinant herpes zoster vaccine (RZV). It is intended for the prevention of herpes zoster and postherpetic neuralgia in individuals aged > 50 and individuals aged ≥ 18 who belong to herpes zoster risk groups. In Poland it is available with 50% reimbursement exclusively for patients aged 65 and older who have an increased risk of developing herpes zoster. This statement is based on the literature available as of 12 July 2024. The guidance will be updated as new data emerges. All data regarding the above-mentioned vaccine comes from clinical trials which have been reviewed, published and approved by the regulatory authorities and an increasing number of recommendations that might have an impact on real world data.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"1-5"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142979286","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}