Neurologia i neurochirurgia polska最新文献

{"title":"Cognitive assessment in post-stroke delirium: distinguishing impairment from instability.","authors":"Anna Barczak","doi":"10.5603/pjnns.114442","DOIUrl":"https://doi.org/10.5603/pjnns.114442","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149182566","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":"Cathodal transcranial direct current stimulation in pediatric epileptic syndromes: mechanisms, limitations, and future research horizons.","authors":"Přemysl Vlček","doi":"10.5603/pjnns.112456","DOIUrl":"https://doi.org/10.5603/pjnns.112456","url":null,"abstract":"<p><strong>Introduction: </strong>Drug-resistant epilepsy affects approximately 20 to 30% of children with epilepsy, with particularly devastating outcomes in developmental and epileptic encephalopathies (DEEs). Cathodal transcranial direct current stimulation (c-tDCS) has emerged as a promising noninvasive neuromodulation approach warranting systematic evaluation.</p><p><strong>State of the art: </strong>Recent meta-analyses of randomized controlled trials demonstrate significant reductions in seizure frequency following c-tDCS compared with sham stimulation, corresponding to roughly 3 to 4 fewer seizures per month or a proportional reduction of about 45% at 4 weeks. Evidence supports efficacy in focal epilepsies and selected syndromes, including Lennox-Gastaut syndrome and early-onset epileptic encephalopathies. Standard protocols employ 1 to 2 mA cathodal stimulation for 20 minutes over 5 to 10 consecutive sessions. High-definition tDCS configurations allow more focal current delivery. However, significant inter-individual variability exists, and the relationship between interictal epileptiform discharge suppression and clinical seizure outcomes remains inconsistent. Computational modeling demonstrates substantially higher cortical electric field strengths in children than in adults at equivalent current intensities, raising important dosing considerations. Safety data from over 600 pediatric sessions indicate favorable tolerability with no serious adverse events, although seizure exacerbation has been reported in a minority of participants in open-label studies.</p><p><strong>Clinical implications: </strong>Cathodal tDCS represents a safe, tolerable, and potentially effective adjunct to unchanged antiseizure medication regimens in children with drug-resistant focal epilepsy and should presently be regarded as investigational. Selection criteria, optimal stimulation parameters, and syndrome-specific protocols require further refinement. Particular caution is warranted with transcranial alternating current stimulation in generalized epilepsies.</p><p><strong>Future directions: </strong>Research priorities include closed-loop electroencephalography (EEG)-triggered stimulation systems, biomarker- driven patient selection, age-appropriate dosimetry informed by computational modeling, and adequately powered trials in specific DEE populations including West syndrome, Dravet syndrome, and epileptic encephalopathy with spike-wave activation during sleep.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149167134","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 link between inflammation and autonomic dysfunction in alpha-synucleinopathies - narrative review.","authors":"Karol Kutyłowski, Piotr Alster, Natalia Madetko-Alster","doi":"10.5603/pjnns.112453","DOIUrl":"https://doi.org/10.5603/pjnns.112453","url":null,"abstract":"<p><strong>Introduction: </strong>Alpha-synucleinopathies are a group of disorders characterized by the accumulation of the pathological form of alpha-synuclein. This group comprises Parkinson's disease, Parkinson's disease dementia, multiple system atrophy, dementia with Lewy bodies, pure autonomic failure, and idiopathic REM sleep behavior disorder. Despite sharing a similar molecular basis, these disorders differ in their clinical presentation. Characteristic manifestations include signs of autonomic failure such as orthostatic hypotension, postural orthostatic tachycardia syndrome, constipation, gastroparesis, urinary incontinence, and erectile dysfunction, among others. These symptoms significantly impair patients' daily functioning and are also negative prognostic factors.</p><p><strong>State of the art: </strong>Currently, research is investigating the link between inflammation and dysautonomic symptoms. Elevated levels of pro-inflammatory cytokines, such as IFN-γ, TNF-α, IL-6, IL-1β, and IFN-α, have been found to accompany these symptoms. Notably, in other diseases characterized by chronic inflammation, autonomic dysfunction is also common.</p><p><strong>Clinical implications: </strong>In two human studies of dysautonomic symptoms in other conditions, intravenous immunoglobulin therapy was shown to improve these symptoms. Animal studies have shown that other immunomodulatory agents reduce symptom severity.</p><p><strong>Future directions: </strong>Modulation of inflammation, dietary modification, the use of probiotics and prebiotics, and fecal microbiota transplantation are potential therapeutic approaches for these diseases. These approaches offer hope for improving the quality of life of patients with alpha-synucleinopathies. Further research in this area is needed.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149167271","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":"Associations of serum BDNF and Val66Met (rs6265) BDNF gene polymorphism with depressive symptoms and cognitive performance after ischemic stroke: a prospective cohort study.","authors":"Dariusz Kotlęga, Barbara Peda, Agnieszka Zembron-Lacny, Katarzyna Baldy-Chudzik, Malgorzata Szczuko","doi":"10.5603/pjnns.110718","DOIUrl":"https://doi.org/10.5603/pjnns.110718","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Aim of the study: &lt;/strong&gt;To assess the association between serum brain-derived neurotrophic factor (BDNF) levels and depressive symptoms and cognitive performance after ischemic stroke, and to evaluate the impact of the BDNF Val66Met (rs6265) gene polymorphism on these relationships.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Clinical rationale for the study: &lt;/strong&gt;Post-stroke depression (PSD) and post-stroke cognitive impairment (PSCI) are frequent and often coexisting complications that markedly worsen quality of life and functional outcome in stroke survivors. BDNF is a key mediator of neuroplasticity, neuroprotection and mood regulation, and the Val66Met polymorphism has been implicated in vulnerability to depression and cognitive decline. However, data integrating BDNF, detailed neuropsychological profiles and genetic variability in stroke cohorts remain limited.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Material and methods: &lt;/strong&gt;In this prospective cohort study, 110 patients with ischemic stroke and 33 age- and sex-matched controls were enrolled. Serum BDNF concentration was measured once at 7 days post-stroke (early subacute phase). Depressive symptoms were assessed with the Beck Depression Inventory-II (BDI-II) at 7 days and at 6 months after stroke. A comprehensive neuropsychological battery was applied at baseline and follow-up, including California Verbal Learning Test, Trail Making Test A and B, Stroop Color and Word Test, Digit Span, Verbal Fluency Tests and Montreal Cognitive Assessment. BDNF Val66Met genotype was determined in all stroke patients. Correlations and adjusted multivariable models were performed.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Baseline serum BDNF was inversely associated with baseline BDI-II score (adjusted Spearman rho = -0.256, p = 0.007), corresponding to an approximate 1.86-point reduction in BDI-II per 10,000 pg/mL increase in BDNF. No significant association was found with BDI-II at 6 months. Higher BDNF levels were consistently related to better cognitive performance, particularly faster processing speed and attention (shorter Stroop1 and Trail Making Test A times) at baseline and follow-up in adjusted analyses. BDNF concentrations and Val66Met genotype distributions did not differ between stroke and control groups. The Val66Met polymorphism did not modify BDNF-depression or BDNF-cognition associations, although Val/Val carriers showed higher baseline CVLT semantic clustering scores.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Higher serum BDNF levels are associated with less severe depressive symptoms and better cognitive performance after ischemic stroke, independent of major vascular risk factors. In this cohort, the BDNF Val66Met polymorphism had a limited impact, with only a modest association with a specific memory clustering measure. These findings support the clinical relevance of BDNF as a potential biomarker of mood and cognitive outcomes in stroke survivors and justify further studies incorporating longitudinal BDNF measurements and larger gen","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149137552","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 hidden dangers of functional status: a case series.","authors":"Tomasz Kałużny, Katarzyna Bosak, Maria Michalska, Agnieszka Słowik, Magdalena Bosak","doi":"10.5603/pjnns.112592","DOIUrl":"https://doi.org/10.5603/pjnns.112592","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149137576","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":"Comparative diagnostic accuracy and clinical utility of the Mini-Addenbrooke's Cognitive Examination, ACE-III, and MMSE for functional staging across the Alzheimer's disease continuum.","authors":"Anna Barczak, Maciej P Golan, Beata Hintze","doi":"10.5603/pjnns.113649","DOIUrl":"https://doi.org/10.5603/pjnns.113649","url":null,"abstract":"<p><strong>Introduction: </strong>The advent of disease-modifying therapies has heightened the demand for cognitive screening instruments capable of detecting cognitive impairment and supporting both functional staging and longitudinal monitoring of Alzheimer's disease (AD). Although the Addenbrooke's Cognitive Examination III (ACE-III) offers a comprehensive multidomain assessment, the Mini-Addenbrooke's Cognitive Examination (M-ACE) may be more practical for routine clinical use. However, the extent to which M-ACE supports disease staging remains insufficiently established.</p><p><strong>Objective: </strong>To compare the diagnostic accuracy and functional staging capabilities of M-ACE, ACE-III, and the Mini-Mental State Examination (MMSE) across the AD continuum.</p><p><strong>Material and methods: </strong>This retrospective study included 1,834 consecutive individuals seeking clinical evaluation, classified as having subjective cognitive decline (Functional Assessment Staging Tool [FAST] stage 2), mild cognitive impairment (FAST stage 3), or AD dementia (FAST stages 4-6). Analyses included assessments of internal consistency, convergent validity, receiver operating characteristic (ROC) analyses, determination of optimal cutoff values, and multivariable logistic regression. Diagnostic accuracy was compared using DeLong's test.</p><p><strong>Results: </strong>M-ACE exhibited good internal consistency (McDonald's ω = 0.835; Cronbach's α = 0.731) and strong convergent validity with ACE-III (ρ = 0.822). ACE-III demonstrated the most consistently high diagnostic accuracy across FAST transitions. M-ACE performed nearly as well as ACE-III at earlier stages and significantly outperformed MMSE at the FAST 2-3 transition, whereas its discriminative performance declined at later stages. MMSE yielded the highest area under the receiver operating characteristic curve (AUC) at FAST 4-5, although its performance did not differ significantly from ACE-III. Optimal M-ACE cutoff values were ≤ 25 (FAST 2-3), ≤ 19 (FAST 3-4), ≤ 13 (FAST 4-5), and ≤ 7 (FAST 5-6). M-ACE remained independently associated with disease stage after adjusting for age, sex, and education. Exploratory analyses revealed that Memory Recall exhibited a floor effect from FAST stage 4, accounting for the increasing advantage of ACE-III in later disease stages.</p><p><strong>Conclusions: </strong>M-ACE offers an optimal balance between diagnostic accuracy and administration time, positioning it as a practical alternative to MMSE for routine cognitive screening and longitudinal monitoring. The findings support ACE-III as the preferred instrument for comprehensive baseline characterization, while M-ACE is particularly suitable for rapid follow-up assessments.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128200","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":"Alternating hemiplegia of childhood - a systematic review.","authors":"Malwina Brzozowska, Aleksandra Tobiasz, Agata Jaunich, Justyna Paprocka","doi":"10.5603/pjnns.110110","DOIUrl":"https://doi.org/10.5603/pjnns.110110","url":null,"abstract":"<p><strong>Introduction: </strong>Alternating hemiplegia of childhood (AHC) is a rare ATP1A3-related neurodevelopmental disorder characterized by recurrent hemiplegic episodes, paroxysmal neurological symptoms, and progressive motor and cognitive impairment. This systematic review summarizes current evidence on its clinical course, comorbidities, diagnostic findings, and treatment options.</p><p><strong>Material and methods: </strong>A PubMed search (2015-2025) identified 233 records. Following PRISMA-guided screening, 31 original studies on human subjects were included.</p><p><strong>Results: </strong>Alternating hemiplegia of childhood typically presents in infancy and evolves into persistent interictal motor dysfunction, including impaired balance and reduced coordination. Behavioral and social impairments, such as aggression, self-injury, and severe autism spectrum traits, occur in more than half of patients. Epilepsy affects approximately 50-60%, with p.Glu815Lys variants linked to higher risk of status epilepticus. Sleep disturbances, including frequent arousals and central or obstructive apnea, are common and contribute to morbidity. Neuroimaging frequently demonstrates white matter loss and cerebellar volume reduction, occasionally accompanied by hippocampal or insular atrophy. Cardiac abnormalities, especially QTc shortening in ATP1A3-D801N carriers, represent an emerging risk factor for ventricular arrhythmias and SUDEP. Flunarizine remains the primary treatment, while cannabidiol shows additional benefit for seizures and behavioral symptoms.</p><p><strong>Conclusions: </strong>Alternating hemiplegia of childhood is a complex multisystem disorder requiring early diagnosis, continuous monitoring, and multidisciplinary care. Disease-modifying treatments remain urgently needed.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128132","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":"Cerebral collision tumor vs. tumor-to-tumor metastasis. Case series with a literature review.","authors":"Wiktoria Suchcicka, Julia B Olszewska, Natalia Skrzat, Albert Acewicz, Wiesława Grajkowska, Michał Sobstyl, Karol Karamon","doi":"10.5603/pjnns.109154","DOIUrl":"https://doi.org/10.5603/pjnns.109154","url":null,"abstract":"<p><strong>Aim of the study: </strong>In this paper, we aim to provide a comparative analysis of collision tumors and tumor-to-tumor metastases (TTM).</p><p><strong>Material and methods: </strong>We present 3 patients with suspected meningiomas who were later found to have dual tumors - two of whom presented with TTM and a third with a collision tumor. Clinical history, imaging, surgical findings, and histopathological evaluation were analyzed and compared with the literature.</p><p><strong>Results: </strong>Patient 1, a 65-year-old woman, was diagnosed with a collision tumor comprising a meningothelial meningioma and metastatic lung adenocarcinoma. Patient 2, a 66-year-old woman, had a TTM of a meningioma infiltrated by neuroendocrine carcinoma. Patient 3, a 64-year-old man, had a TTM of glioblastoma multiforme and meningioma.</p><p><strong>Conclusions and clinical implications: </strong>Collision tumors consist of two adjacent, separate lesions, whereas TTM occurs when one tumor metastasizes into another. Neuroimaging alone cannot reliably distinguish collision tumors from TTM; histopathological and immunohistochemical evaluations are essential, as differentiating between the two has implications for staging, treatment, and prognosis. Even when a single lesion is suspected, neuropathologists should examine brain tumors meticulously, as identifying a hidden component can fundamentally alter diagnosis and clinical management.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128095","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":"Spinal cord stimulation in the treatment of chronic pain: from evidence to clinical practice - part 1.","authors":"Tomasz Mandat, Katarzyna Kotfis, Paweł Sokal, Dariusz Kosson, Ewelina Kamińska, Piotr Przygodzki, Jan Cybulski, Izabela Łach, Michał Jakubczyk, Maciej Niewada, Jarosław Sławek","doi":"10.5603/pjnns.111689","DOIUrl":"https://doi.org/10.5603/pjnns.111689","url":null,"abstract":"<p><strong>Introduction: </strong>Neuropathic pain is caused by a lesion or disease of the somatosensory nervous system. Pharmacotherapy remains the primary treatment for this condition, although non-pharmacological modalities such as physical and psychological therapy are also recommended.</p><p><strong>State of the art: </strong>Due to the limited efficacy of conventional therapies, interventional modalities such as spinal cord stimulation (SCS) are increasingly used. Several theories have been formulated to explain the analgesic mechanism of SCS. These include the gate control theory, neurochemical and immunological mechanisms, synaptic plasticity, and cortical reorganization.</p><p><strong>Clinical implications: </strong>Clinical data were analyzed in a systematic review of the literature that identified eight systematic reviews with meta-analyses. Most of the meta-analyses indicate that SCS provides statistically superior outcomes compared with conventional therapy or placebo in terms of pain intensity, degree of disability, and quality of life. Safety was evaluated in one systematic review, in which the estimated risks of lead or wire displacement/breakage and infection were significantly higher in the SCS arm than in the conventional therapy arm.</p><p><strong>Future directions: </strong>The benefits of earlier implementation of SCS in the therapeutic regimen are becoming recognized. It is necessary to clearly define the role of SCS in the multidisciplinary treatment of patients with neuropathic pain.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128224","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 insights into multiple sclerosis: exploring mitochondrial DNA and nuclear POLG gene variation in a Polish single-center RRMS cohort.","authors":"Agnieszka Piotrowska-Nowak, Biruta Kierdaszuk, Ada M Dziedzicka, Magdalena Kaliszewska, Aleksandra Podlecka-Piętowska, Katarzyna Tońska","doi":"10.5603/pjnns.113007","DOIUrl":"https://doi.org/10.5603/pjnns.113007","url":null,"abstract":"<p><strong>Aim of the study: </strong>To evaluate the contribution of mitochondrial DNA (mtDNA) variation and four POLG mutations to disease susceptibility and course in Polish patients with relapsing-remitting multiple sclerosis (RRMS).</p><p><strong>Clinical rationale for the study: </strong>Mitochondrial dysfunction is increasingly implicated in the pathogenesis of multiple sclerosis (MS), yet its precise role remains unclear. Determining the impact of mtDNA variation and POLG mutations may improve understanding of factors influencing disease onset and progression.</p><p><strong>Material and methods: </strong>Whole mtDNA was sequenced in 100 RRMS patients using next-generation sequencing and compared with previously generated mtDNA data from 212 Polish individuals without MS. The presence of pathogenic variants, distribution of haplogroups, rare variants, and heteroplasmy were assessed. Absolute mtDNA copy number was measured by real-time PCR. Additionally, RRMS patients were screened for four common POLG mutations (p.Gly268Ala, p.Ala467Thr, p.Pro587Leu, and p.Trp748Ser).</p><p><strong>Results: </strong>No pathogenic mtDNA variants or any of the four screened POLG variants were detected. No significant associations were found between major mtDNA haplogroups, copy number, heteroplasmy, or rare variants and MS risk or progression. Exploratory analyses identified nominal associations between several mtDNA variants and relapse occurrence, disability level, age at symptom onset, and sex in the RRMS cohort.</p><p><strong>Conclusions and clinical implications: </strong>Pathogenic mtDNA variants, major haplogroups, mtDNA copy number, rare variant burden, and the four screened POLG variants do not appear to play a major role in RRMS susceptibility or clinical course in the analyzed cohort. Several associations involving individual mtDNA variants were identified, but these findings are exploratory and require independent replication in larger cohorts before their biological or clinical relevance can be established.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112691","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}