搜索结果：Neurologia i neurochirurgia polska

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). 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. 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.

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.

Corticobasal syndrome (CBS), a heterogeneous clinical phenotype, can be associated with various underlying pathologies. Although neuropathological studies show that CBS cases can be attributed to Alzheimer's disease (AD), in vivo confirmation and subsequent disease-modifying therapy remain rarely reported. In our patients presenting with clinical features consistent with CBS, amyloid positron emission tomography (PET) facilitated the diagnosis of underlying AD pathology and enabled the initiation of anti-amyloid therapy. We retrospectively reviewed patients with probable corticobasal degeneration from two tertiary centers who underwent amyloid PET confirming AD, systematically collecting clinical, imaging, and treatment data. Two patients were identified who fulfilled the inclusion criteria. In both patients, episodic memory was impaired, which was inconsistent with a typical corticobasal syndrome phenotype. Amyloid PET demonstrated widespread cortical and subcortical amyloid deposition, confirming underlying AD pathology. Based on these findings, anti-amyloid therapy was initiated, and clinical improvement was observed in both patients, although causality cannot be inferred from this uncontrolled retrospective observation. Corticobasal syndrome may be an atypical clinical presentation of AD pathology. Importantly, molecular imaging allowed an in vivo diagnosis of AD and facilitated the timely initiation of anti-amyloid therapy. This novel report documents the clinical implementation of amyloid PET guided anti-amyloid therapy in patients presenting with CBS.

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Myasthenia gravis (MG) is a heterogenous autoimmune disease affecting the neuromuscular junction, which in many patients leads to devastating symptoms significantly influencing patients' lives or causing life-threatening episodes. The incidence and prevalence of myasthenia are growing worldwide. By definition, MG is characterized by muscle weakness exacerbated with activity and improving with rest. A total of 15-20% of patients during the course of the disease develop myasthenic crisis (MC), defined as respiratory insufficiency requiring intubation, with a high mortality rate. Approximately 30-50% of patients have unsatisfactory response to the standard treatment. Moreover, the standard of care (SoC), although efficient in most of patients, may be complicated by significant side effects, in most cases resulting from long-term treatment with glucocorticosteroids. In recent decades, new therapies have been approved for MG, including neonatal Fc receptor (FcRn) antagonists and complement component 5 (C5) inhibitors, as add-on to standard therapy. They showed efficacy and safety, even in patients previously considered as resistant MG. In several cases their rapid onset of action led to successful use as rescue treatments in impending crisis. Furthermore, it is noteworthy that new biologics show relevant steroid-sparing effects. This review summarizes new therapeutic approaches already approved for MG and introduces upcoming ones.

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The prevalence of Parkinson's disease (PD) has increased globally, especially in China, and emerged as a critical public health challenge. Based on the Global Burden of Disease (GBD) and the China Health and Retirement Longitudinal Study (CHARLS) databases, this study explores temporal trends in Parkinson's disease (PD) prevalence and its risk factors among middle-aged and older Chinese adults from 1992 to 2021. The age-period-cohort (APC) model was used to analyze the effects of age, period, and birth cohort on PD prevalence. Chi-square tests were used to determine risk and protective factors for PD. The autoregressive integrated moving average (ARIMA) model was used to predict trends in PD prevalence in China and worldwide over the next 10 years, and several machine learning models were used to develop a classifier for the early screening of PD. The results showed that the average annual growth rate of PD prevalence in China was twice the global average, and this high growth rate is projected to continue in the next decade. Analysis of the CHARLS data showed that aging, urban residence, and metabolic diseases such as diabetes, hypertension, and dyslipidemia were significantly associated with the risk of PD, while moderate alcohol consumption may have a protective effect. Among the machine learning models, the random forest model had the best performance for the early screening of PD (sensitivity 0.968), confirming the significant value of artificial intelligence methods in the precise prevention of PD. This study revealed that population aging and advances in diagnostic and treatment systems have led to a heavy burden of PD in China. Public health prevention of PD in China should strengthen the precise screening of high-risk groups and early intervention for risk factors, thereby enabling public health departments to more effectively alleviate the medical and socioeconomic burden of the disease.

CSF1R-related disorder (CSF1R-RD) is a rare, autosomal dominant microgliopathy characterized by leukoencephalopathy. While extrapyramidal symptoms are common, the underlying integrity of the presynaptic dopaminergic system in these patients remains poorly understood. The aim of our study was to analyze dopamine transporter availability using single-photon emission computed tomography (SPECT) 123I-ioflupane in patients with CSF1R mutations to differentiate the pathophysiology of their parkinsonism. We conducted a retrospective review of 112 electronic medical charts from a large tertiary referral medical center. Four patients (3.6%) with CSF1R variants underwent SPECT 123I-ioflupane imaging. Clinical data, MRI findings, and genetic pathogenicity were assessed. SPECT 123I-ioflupane results were normal i n 3 patients, despite t he presence of parkinsonian symptoms, i ncluding tremor, rigidity, and bradykinesia. The only patient with an abnormal SPECT 123I-ioflupane result was a 70-year-old with a pathogenic CSF1R c.1924C > T, p.Gln642* variant and a clinical phenotype of classic Parkinson disease. Parkinsonism in CSF1R-RD may present with a normal SPECT 123I-ioflupane results, suggesting that motor deficits arise from white matter degradation and disrupted connectivity rather than primary nigrostriatal loss.

To evaluate the diagnostic accuracy of the Warsaw Cognitive Assessment Scale (Warszawska Skala Oceny Poznawczej, WSOP) for detecting mild cognitive impairment (MCI) and dementia, and to compare its performance with the Addenbrooke's Cognitive Examination III (ACE-III) and the Mini-Mental State Examination (MMSE). Early detection of cognitive impairment remains challenging in clinical practice. Existing screening tools are limited by administration time, sensitivity to early deficits, and reliance on auditory input. The WSOP was developed as a brief, multidomain screening instrument tailored to the Polish population, aiming to balance diagnostic accuracy with clinical efficiency. A total of 370 participants (111 Controls, 138 with MCI, 121 with mild dementia) were assessed using WSOP, ACE-III, and MMSE. Group differences were analyzed using non-parametric tests, and convergent validity was evaluated with Spearman's correlations. Diagnostic accuracy was assessed using receiver operating characteristic (ROC) analysis, including area under the curve (AUC), sensitivity, specificity, and optimal cut-off values. Additional analyses controlled for age, education, and sex. WSOP demonstrated high diagnostic accuracy comparable to ACE-III. For distinguishing Controls from MCI, AUC values were 0.945 (WSOP) and 0.951 (ACE-III), both exceeding MMSE (0.80). For MCI versus dementia, AUC values were 0.943 and 0.964, respectively. The optimal WSOP cut-offs were 67.5 for MCI and 53.5 for dementia. Diagnostic performance remained stable after adjusting for demographic variables. WSOP scores showed moderate to strong correlations with ACE-III, providing initial evidence of convergent validity. WSOP is a brief, reliable multidomain cognitive screening tool with diagnostic accuracy comparable to ACE-III. Its balance of comprehensiveness and efficiency supports its potential use in clinical screening settings, pending further validation in broader populations.

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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.

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.

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.

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.

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.

This study aimed to analyze the most established genetic causes of Parkinson's disease (PD) in a cohort of patients from Czechia. PD is the second most common neurodegenerative disorder, with both genetic and environmental factors contributing to its pathogenesis. We examined 214 patients with PD and 186 controls. Each patient underwent an examination using the Montreal Cognitive Assessment to assess the severity of cognitive impairment. Genetic analysis was performed using next- -generation sequencing and multiplex ligation-dependent probe amplification, focusing on mutations in GBA1, LRRK2, PINK1, PRKN, and SNCA genes. Clinically relevant mutations in GBA1 (pathogenic/likely pathogenic or severe/mild/risk variants) were the most frequently observed variants (n = 30; 14.0% of the PD cohort in total), including both known pathogenic mutations and the mild risk allele p.Glu365Lys (n = 12; 5.6% of cases), which was associated with earlier disease onset. Pathogenic mutations were also detected in LRRK2 (n = 2; 0.9%), SNCA (n = 1; 0.5%), and compound heterozygous mutations in PRKN (n = 2; 0.9%). Carriers of heterozygous mutations in PRKN were equally represented in patients and controls. No pathogenic PINK1 mutations were identified. Cognitive impairment was not significantly more frequent in GBA1 mutation carriers (p = 0.320). A positive family history of PD was more common in patients than in healthy controls (n = 51; 24% vs. n = 6; 3%, p < 0.001). Our findings highlight notable genetic variability in Czech PD patients, particularly involving GBA1 mutations. However, these variants were not associated with early cognitive decline. The study underscores the value of genetic screening in PD and the need for further research into genotype-phenotype correlations.

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