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.
Multiple sclerosis (MS) itself and disease modifying treatment (DMT) used in MS are risk factors of adverse herpes zoster (HZ) infection development. During HZ infection complications might develop, e.g. postherpetic neuralgia or optic neuritis, decreasing patients' quality of life. Data concerning HZ development in MS patients is limited. The authors aimed to assess the number of reports on adverse HZ development in MS patients treated with different DMTs. The EudraVigilance database was analyzed to identify HZ reports among all adverse event reports related to MS disease-modifying therapies from 2003 to 2024. Reporting odds ratios (RORs) for the drugs were calculated, and Fisher's exact test was used. When p < 0.05, results were concluded statistically significant. The authors identified 2,017 reports of HZ associated with MS DMTs. The highest ROR values were noted for fingolimod (4.09), cladribine (3.33), and alemtuzumab (2.27). The lowest ROR values were noted for glatiramer acetate (0.17), interferons (≈ 0.21) and teriflunomide (0.35). The study shows that some DMTs used in MS might significantly increase the risk of HZ development. While treating MS patient with DMTs the risk of adverse HZ should be evaluated. Vaccination against HZ should be recommended for patients to benefit the most from the available treatment.
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Multiple sclerosis (MS) is a disease of the central nervous system (CNS) with a complex pathogenesis characterized by inflammation, demyelination, and progressive neurodegeneration. Cognitive impairment (CI) is a common manifestation of MS, with a prevalence ranging from 40% to 70% of patients. It also appears to be one of the factors involved in deterioration of work ability, which negatively affects patients' independence and carries a substantial socioeconomic burden. We aimed to summarize the most recent findings regarding the relationship between CI and employment status in MS. PubMed and Embase were searched in accordance with PRISMA guidelines, which resulted in the inclusion of the 37 most appropriate studies. Patients with MS scored significantly worse on cognitive assessment tests than healthy controls. Significant correlations were found between worse performance in different cognitive domains and unemployment. Moreover, some studies reported that CI may also predict future vocational deterioration in patients with MS. Cognitive dysfunction may play an important role in the deterioration of employment status among patients with MS. Of the analyzed neuropsychological tests, the Symbol Digit Modalities Test (SDMT) appears to be the most suitable tool for cognitive evaluation in this patient group.
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This study aims to define the clinical and neuropathological features associated with the CSF1R c.2381T > C, p.Ile794Thr variant. Colony-stimulating factor 1 receptor (CSF1R)-related disorder (CSF1R-RD) is a rare, fatal, autosomal dominant leukoencephalopathy caused by mutations in the CSF1R gene, primarily affecting microglial function. The CSF1R c.2381T > C, p.Ile794Thr variant in exon 18 is the most frequently reported pathogenic mutation worldwide. The clinical presentation of carriers of different CSF1R mutations may vary. We analyzed medical records and neuropathology of seven patients from four families evaluated at Mayo Clinic Florida (MCF). We compared them with 74 previously reported p.Ile794Thr cases identified through a systematic literature search (PubMed, Embase, Web of Science, and Google Scholar) up to January 2026. Data on age of onset, clinical symptoms, survival, and imaging findings were analyzed. Haplotype analysis was performed to investigate potential founder effects. Parkinsonism occurred significantly more frequently in the MCF cohort than in the p.Ile794Thr cases reported in the literature (85.7% vs. 40.0%; p = 0.04). Haplotype analysis indicated that the mutation likely arose independently in different lineages rather than from a common ancestor, including a confirmed de novo case. Neuropathological evaluation confirmed classic hallmarks of CSF1R-RD: white matter degeneration, axonal spheroids, and pigmented glia. CSF1R-RD associated with the p.Ile794Thr variant presents a consistent clinical phenotype across cases reported globally, though the prevalence of parkinsonian features may vary by population. The high frequency of this variant across diverse haplotypes suggests a mutational hotspot in exon 18.
The authors aimed to characterize the population with myasthenia gravis (MG), focusing on their eligibility for a therapeutic program with terminal complement protein C5 inhibition (ravulizumab), neonatal Fc receptor (FcRn) modulation (efgartigimod), and with anti-cluster of differentiation 20 (anti-CD20) monoclonal antibody rituximab reimbursed by the Polish National Health Fund (NFZ), and also to create a database with clinical and epidemiological details of a large MG population. Myasthenia gravis is a rare, life-threatening autoimmune neurological disease and, as such, is usually treated with traditional immunosuppressants. The therapeutic program enables the use of advanced agents, but the eligibility criteria are highly restrictive. It is not known how many patients may be eligible for treatment with advanced therapies since the available data is sparse. The authors reviewed the clinical files of all 82 hospitalizations (of 65 patients) due to MG at the Department of Neurology of Poznan University Hospital between January 2023 and May 2025. Collected data included: age, gender, reason for admission, treatment before and after hospitalization with doses, The Myasthenia Gravis-Activities of Daily Living scale (MG-ADL), and Myasthenia Gravis Foundation of America (MGFA) scores on admission, treatment with intravenous immunoglobulin (IVIG)/plasmapheresis during hospitalization, data describing the autoimmunologic and comorbidities profile of each patient. Furthermore, the authors explored whether patients fulfilled the therapeutic program enrollment criteria: 1) history of glucocorticoids (GCS) therapy for at least 6 months (at least 3 months of 30 mg of prednisone daily); 2) history of using two drugs from the class of non-steroidal immunosuppressive drugs, including one for at least 12 months and the other for at least 6 months. Statistical analyses were conducted using JASP software (University of Amsterdam, the Netherlands). Among 65 patients, the median age was 64 years, 57% were women, and 94% had at least one comorbidity. During 82 hospitalizations, the authors used IVIG 23 times, plasmapheresis 8 times, and a combination of these therapies 3 times. In only 6.1% of hospitalized patients, there was a proven history of adequate oral steroid therapy, and no patient fulfilled definitively the criterion for a history of treatment with two non-steroidal immunosuppressive drugs. Only a small percentage of patients are eligible for the therapeutic program as an indication of insufficient immunosuppressive treatment of MG before hospitalization.
Toxoplasma gondii (T. gondii) remains the primary pathogen causing focal cerebral lesions in human immunodeficiency virus (HIV)-positive persons, despite the general reduction of the incidence of opportunistic infections with the wide rollout of antiretroviral therapy. Therefore, serology testing at baseline remains a standard of HIV care. The aim of our study was to investigate the prevalence of T. gondii immunoglobulin G (IgG) and IgM antibodies among people who have been newly diagnosed with HIV. A retrospective analysis of medical records of individuals newly registered in Warsaw's HIV Outpatient Clinic from January 1, 2021, to April 4, 2023, was performed. Demographics, transmission mode, and HIV status data were analyzed. Toxoplasma IgM and IgG antibodies were assessed using VIDAS® (bioMérieux, Lyon, France). Stratification was based on IgG antibody presence and chi-square test used for group comparison using Quick Statistics Calculators (https://www.socscistatistics. com/, accessed on November 10, 2023). Among 464 healthcare clients, 92.0% were male, with men who have sex with men (MSM) as the main HIV transmission mode (76.1%). Toxoplasma IgM antibodies were present in one (0.2%) and IgG antibodies were present in 142 (30.6%) persons. The median age was 32 years [interquartile range (IQR): 26.25-40.0], median CD4+ count was 365.5 cells/μL (IQR: 263-506), and median HIV viral load 46,576 copies/mL (IQR: 8,762.25-187,585.25). Persons with Toxoplasma IgG present were more likely to be female (13.4% vs. 5.6%, p = 0.0043), ≥ 30 years old (69.0% vs. 56.5%, p = 0.0112), acquiring HIV through heterosexual contacts (23.9% vs. 11.8%, p = 0.0013), and through intravenous drug injections (2.8% vs. 0.0%, p = 0.0085). No significant differences in T. gondii IgG prevalence were observed in persons regarding CD4 count and HIV viral load. Positive T. gondii IgG antibodies were present in 30.6% of newly registered healthcare clients and IgM in one person. This reflects trends in the general population. Factors correlated with positive T. gondii IgG antibodies were female sex, older age, heterosexual contacts, and intravenous drug injection modes of HIV acquisition.
Multiple Sclerosis (MS) is a highly heterogenic disorder, including radiologically isolated syndrome (RIS) with no clinical symptomatology, clinically isolated syndrome (CIS), typical relapsing-remitting or progressive course, aggressive, and even tumefactive cases. The latest version of the diagnostic McDonald criteria (2024) enables MS diagnosis as early as in RIS if specific conditions are fulfilled. New magnetic resonance imaging (MRI) biomarkers, namely central vein sign (CVS) and paramagnetic rim lesions (PRLs), have been included in the criteria to prevent false positive diagnoses. However, CVS and PRLs are not definitive MS biomarkers, lacking complete specificity (because CVS may occur, albeit less frequently, in lesions associated with small vessel disease or Behçet's disease) or sensitivity (because only half of MS patients will have at least one PRL per scan). Early diagnosis prompts early disease-modifying treatment (DMT). Therefore, now more than ever, clinicians should focus on careful exclusion of other pathologies that may mimic MS, to ascertain appropriate treatment. This review focuses on a selection of non-infectious MS mimics that must be considered when applying the 2024 McDonald criteria to patients with MRI or clinical findings suggestive of MS. Differentiating characteristics are updated and discussed in the context of MRI biomarkers and, as with diseases with optic nerve involvement, in the context of the newly added fifth typical MS topography (optic nerve).
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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.
Multiple sclerosis (MS) is a chronic, immune-mediated disease of the central nervous system and the leading cause of non-traumatic disability in young adults. In Poland, MS represents a significant neurological and public health challenge. Although treatment principles for MS are largely based on international guidelines, their implementation varies across countries due to differences in healthcare organization and access to therapies. Current treatment algorithms in Poland include both platform agents, such as interferon beta, glatiramer acetate, fumarates, and teriflunomide, as well as high-efficacy therapies, including monoclonal antibodies (e.g., ocrelizumab, ofatumumab, ublituximab, alemtuzumab, natalizumab) and oral agents (e.g., fingolimod, cladribine, ozanimod, ponesimod). Therapeutic decisions typically follow either an escalation strategy or an early intensive approach, depending on disease activity, prognostic factors, and reimbursement criteria. In addition, treatment priorities vary depending on the disease phenotype: in relapsing-remitting MS (RRMS), the aim is to reduce relapse rates and delay disability progression, whereas in progressive forms, such as primary progressive MS (PPMS) and secondary progressive MS (SPMS), the goal is to slow disease progression and preserve daily functioning. With an expanding range of therapeutic options, European clinical experience in the management of different MS phenotypes, particularly RRMS, reflects an individualized treatment approach. In routine practice, therapeutic decisions are primarily guided by disease activity, with high-efficacy therapies considered early in selected patients; similar principles inform real-world clinical practice in Poland. This review offers practical guidance for clinicians and provides therapeutic algorithms designed to support the management of patients with MS. The future development of MS management in Poland will depend on expanding access to innovative therapies, advancing biomarker research, and implementing the latest diagnostic criteria for MS. European treatment recommendations will continue to provide an important framework supporting high-quality care and early intervention for people with MS.
Migraine is the most common neurological disorder worldwide. However, despite its high prevalence and clear diagnostic criteria, migraine is frequently underdiagnosed or misidentified as other primary or secondary conditions. Migraine remains one of the greatest diagnostic challenges due to its remarkable clinical diversity and tendency to mask other conditions. One major challenge in diagnosing primary headaches is the lack of available biomarkers, and diagnosis is largely based on criteria and patient self-reporting. This article discusses different and often atypical clinical presentations of migraine and the most common diagnostic challenges encountered in clinical practice. The diagnostic difficulties of migraine with aura will be discussed, with particular emphasis on retinal migraine, migraine aura without headache, and vestibular migraine, as well as the most common misdiagnoses, including sinus headache, facial pain, neuralgias, and other primary headaches. Future directions in headache medicine will include the accurate clinical characterization of primary headaches and facial pain. This will require detailed clinical observation, the identification of migraine-specific biomarkers, and precise phenotyping using the latest technologies.
Cerebral small vessel disease (SVD) is commonly observed on neuroimaging among elderly individuals and is recognized as a risk factor for stroke, cognitive decline, gait impairment, and mood disturbance. Clinical features often vary in severity and presentation even among patients with similar SVD findings on brain imaging. The Standards for Reporting Vascular Changes on Neuroimaging (STRIVE) initiative (STRIVE 1 and 2) established standardized terminology for the radiological features of SVD and clarified their interrelationships. This article presents current knowledge about the effects of SVD on structural and functional brain connectivity, as well as the radiological and clinical implications of SVD, with particular attention to cognitive and behavioral disturbances.
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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. 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. 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. 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. 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.
Bilateral subthalamic nucleus deep brain stimulation (DBS STN) is a very effective surgical method of treating motor symptoms in Parkinson's disease (PD) patients. The long-term cognitive outcome after the surgery is still discussed. This study compared the impact of DBS STN to best medical treatment (BMT) in patients with PD on cognitive function and mood over a 36-month observation period. The study included PD patients divided into two groups: the BMT group (n = 17), receiving pharmacotherapy alone throughout the entire 36-month observation period, and the DBS group (n = 20), which underwent DBS STN after the baseline visit, and was subsequently observed for the next 36 months. Both groups were examined at Baseline, 9 months, 18 months and 36 months using neuropsychological assessment and the Unified Parkinson's Disease Rating Scale (UPDRS) motor examination. At 36 months, neither group demonstrated a significant decline in visuospatial abilities, executive functions, or memory. Both groups showed longitudinal deterioration in attention/working memory measures; however, these changes were not associated with significant between-group differences. Language performance [Wechsler Adult Intelligence Scale - Revised (WAIS-R similarities)] improved over follow-up in the DBS group relative to BMT, and DBS was associated with a marked reduction in medication across all follow-up timepoints (p < 0.05). The study suggests that DBS STN does not have a significant additional impact on cognition performance in PD patients. Our results also suggest that while active DBS STN continues to improve motor symptoms, it did not prevent the longitudinal worsening of OFF-motor severity (UPDRS III OFF), which progressed similarly in both groups.