Publications by authors named "Tumani H"

Objectives: Herpes simplex virus 1 encephalitis (HSE) is the most common infectious encephalitis in developed countries. We aimed to evaluate the association of serum neurofilament light chain (sNfL) with disease severity, outcome and secondary anti-neuronal autoantibodies in a retrospective cohort study.

Methods: We retrospectively identified 30 patients with HSE and 132 controls (bacterial meningoencephalitis BM n = 27, non-bacterial meningitis NBM n = 33, healthy controls = 72).

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Background: Multiple sclerosis (MS) involves a complex interplay between immune-mediated inflammation and neurodegeneration. Recent advances in biomarker research have provided new insights into the molecular underpinnings of MS, including ferritin, neurogranin, Triggering Receptor Expressed on Myeloid cells 2 (TREM2), and neurofilaments light chain.

Objectives: This pilot study aims to investigate the levels of these biomarkers in the cerebrospinal fluid (CSF) of MS patients and explore their associations with clinical, cognitive, and optical coherence tomography (OCT) parameters.

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Background: Recurrent attacks in neuromyelitis optica spectrum disorders (NMOSDs) or myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) can lead to severe disability. We aimed to analyse the real-world use of immunotherapies in patients with NMOSD and MOGAD, focusing on changes in treatment strategies, effects on attack rates (ARR) and risk factors for attacks.

Methods: This longitudinal registry-based cohort study included 493 patients (320 with aquaporin-4 immunoglobulin G (AQP4-IgG) seropositive NMOSD (65%), 44 with AQP4-IgG seronegative NMOSD (9%) and 129 MOGAD (26%)) with 1247 treatments from 19 German and one Austrian centre from the registry of the neuromyelitis optica study group (NEMOS).

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Objective: In this multicentric study, we were interested in the vision-related quality of life and its association with visual impairment in neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) in comparison to multiple sclerosis (MS) and healthy controls.

Methods: We analysed extracted data from the German NEMOS registry including National Eye Institute Visual Function Questionnaire (NEI-VFQ) scores, high and low contrast visual acuity (HCVA, LCVA), visually evoked potentials (VEP) and the scores for the expanded disability status scale (EDSS) and other neurological tests which assessed their disease-related impairment. The mean follow-up time of our patients was 1.

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Background And Objectives: The impact of viral infections on disease susceptibility and progression has predominantly been studied in patients with relapse-onset MS (RMS). Here, we determined immune responses to ubiquitous viruses in patients with primary progressive MS (PPMS).

Methods: Antibody responses to Epstein-Barr virus (EBV), specifically to the latent EBV nuclear antigen 1 and the lytic viral capsid antigen VCA, human herpesvirus 6 (HHV-6), human cytomegalovirus (HCMV), and measles virus were determined in a cohort of 68 PPMS patients with a mean follow-up of 8 years and compared with 66 healthy controls matched for sex and age.

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Article Synopsis
  • Diagnosing multiple sclerosis (MS) is complicated by varied symptoms and lack of specific biomarkers, compounded by the presence of concurrent autoimmune diseases (AID) and non-specific antibodies, which can hinder effective management.* -
  • A study conducted on 315 patients from 2010 to 2017 revealed that 13.7% had concurrent AID, with autoimmune thyroiditis being the most common, but these conditions did not significantly affect MS progression or relapse rates over a median follow-up of 9 months.* -
  • The findings suggest that while AIDs are prevalent at the onset of MS, they do not influence neurofilament light (NfL) levels, indicative of similar disease activity, pointing to a need
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  • * In a study involving 790 ALS patients and 570 control participants, levels of NfL and pNfH were measured, revealing that NfL is more effective than pNfH for diagnostics and prognosis, especially when considering a new population-based ALS Z-score.
  • * The research highlights the importance of factors like age, ALS symptoms, body mass index (BMI), and kidney function in interpreting neurofilament levels, showing that with
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  • Pathogenic variants in the SOD1 gene are found in about 2% of sporadic and 11% of familial ALS cases in Europe, with a focus on three main variants (R116G, D91A, L145F) in a study of 83 patients in Germany.
  • Patients with the R116G variant experienced the most severe disease progression, with a median survival of just 22 months, significantly shorter than those with D91A (198 months) and L145F (87 months).
  • All patients treated with tofersen showed reduced neurofilament light chain levels in their serum, indicating a potential treatment benefit, regardless of their specific SOD1 variant.
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Recent research has suggested a link between multiple sclerosis and the gut microbiota. This prospective pilot study aimed to investigate the composition of the gut microbiota in MS patients, the presence of epsilon toxin in the serum of MS patients, and the influence of disease-modifying drugs (DMDs) on epsilon toxin levels and on the microbiota. Epsilon toxin levels in blood were investigated by two methods, a qualitative ELISA and a highly sensitive quantitative ELISA.

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Virus-associated chronic inflammation may contribute to autoimmunity in a number of diseases. In the brain, autoimmune encephalitis appears related to fluctuating reactivation states of neurotropic viruses. In addition, viral miRNAs and proteins can be transmitted via exosomes, which constitute novel but highly relevant mediators of cellular communication.

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Background And Objectives: The complement system is known to play a role in multiple sclerosis (MS) pathogenesis. However, its contribution to disease progression remains elusive. The study investigated the role of the complement system in disability progression of patients with primary progressive MS (PPMS).

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  • Biomarkers of synaptic damage, specifically SNAP-25 and VILIP-1, were analyzed in patients with severe traumatic brain injury (TBI) to assess their relationship with injury severity and outcomes.* ! -
  • Elevated levels of SNAP-25 and VILIP-1 in cerebrospinal fluid (CSF) shortly after TBI are linked to poorer long-term outcomes, indicating their potential as reliable indicators of synaptic damage.* ! -
  • The study suggests that these synaptic damage markers are more indicative of unfavorable outcomes compared to other traditional neuroaxonal injury markers and correlate with inflammation following TBI.* !
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The integrity of the blood-CSF barrier plays a major role in inflammation, but also in shielding the CNS from external and systemic-potentially toxic-factors. Here we report results of measurements of the albumin quotient-which is thought to mirror the integrity of the blood-CSF barrier-in 1059 patients with amyotrophic lateral sclerosis. The results were compared with groups of patients suffering from Alzheimer's disease, facial palsy and tension headache.

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Background And Purpose: The predictive value of serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein (sGFAP) for apheresis outcome in steroid-refractory multiple sclerosis (MS) relapse has not yet been evaluated.

Methods: We used pre- and postapheresis serum samples from 38 participants of the IAPEMS trial (clinicaltrials.gov: NCT02671682), which investigated the use of immunoadsorption versus plasma exchange for the treatment of steroid-refractory MS attacks.

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Narcolepsy is a rare cause of hypersomnolence and may be associated or not with cataplexy, i.e. sudden muscle weakness.

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Neurofilament proteins have been validated as specific body fluid biomarkers of neuro-axonal injury. The advent of highly sensitive analytical platforms that enable reliable quantification of neurofilaments in blood samples and simplify longitudinal follow-up has paved the way for the development of neurofilaments as a biomarker in clinical practice. Potential applications include assessment of disease activity, monitoring of treatment responses, and determining prognosis in many acute and chronic neurological disorders as well as their use as an outcome measure in trials of novel therapies.

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Introduction: In Multiple Sclerosis (MS), patients´ characteristics and (bio)markers that reliably predict the individual disease prognosis at disease onset are lacking. Cohort studies allow a close follow-up of MS histories and a thorough phenotyping of patients. Therefore, a multicenter cohort study was initiated to implement a wide spectrum of data and (bio)markers in newly diagnosed patients.

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Background: Validation of the 2020 consensus criteria for primary lateral sclerosis (PLS) is essential for their use in clinical practice and future trials.

Methods: In a large cohort of patients diagnosed with PLS by expert opinion prior to the new criteria with detailed clinical baseline evaluation (n=107) and longitudinal follow-up (n=63), we applied the new diagnostic criteria and analysed the clinical phenotype, electromyography (EMG), diagnostic accuracy and prognosis, adding neurofilaments and MRI as potential biomarkers.

Results: The criteria for definite PLS were met by 28% and those for probable PLS by 19%, whereas 53% did not meet the full criteria at baseline, mainly due to the time, EMG and region criteria.

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Article Synopsis
  • - In April 2023, tofersen, an antisense oligonucleotide, was FDA-approved for treating ALS after it significantly reduced levels of neurofilament light chain (NfL), a marker of neurodegeneration.
  • - A follow-up study involving 24 ALS patients in Germany showed that while ALS functional scores declined, there was a notable reduction in both serum NfL and phosphorylated neurofilament heavy chain (pNfH) levels in the cerebrospinal fluid (CSF).
  • - The therapy was considered safe, with no ongoing symptoms, despite some patients showing signs of immune response in the CSF, pointing to potential autoimmune reactions.
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Objectives: Increased levels of glial fibrillary acidic protein (GFAP) in blood have been identified as a valuable biomarker for some neurological disorders, such as Alzheimer's disease and multiple sclerosis. However, most blood GFAP quantifications so far were performed using the same bead-based assay, and to date a routine clinical application is lacking.

Methods: In this study, we validated a novel second-generation (2nd gen) Ella assay to quantify serum GFAP.

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C-X-C-motif chemokine ligand 13 (CXCL13) in cerebrospinal fluid (CSF) is increasingly used in clinical routines, although its diagnostic specificity and divergent cut-off values have been defined so far mainly for neuroborreliosis. Our aim was to evaluate the value of CSF-CXCL13 as a diagnostic and treatment response marker and its role as an activity marker in a larger disease spectrum, including neuroborreliosis and other neuroinflammatory and malignant CNS-disorders. Patients who received a diagnostic lumbar puncture (LP) ( = 1234) between July 2009 and January 2023 were included in our retrospective cross-sectional study.

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Article Synopsis
  • The study focuses on predictive markers for progression in people with progressive multiple sclerosis (pwPMS), specifically examining serum glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL).
  • Researchers analyzed data from 243 pwPMS participants, finding that high GFAP levels, especially in those with low NfL, were linked to increased disability progression risk over time.
  • The findings suggest that measuring GFAP in blood could be useful for identifying pwPPMS patients who are at a higher risk for disease progression, potentially aiding in more tailored treatment approaches.
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  • The study focused on understanding how disability accumulates in patients with neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein-antibody-associated disease (MOGAD), examining factors like disease duration, attack frequency, and age.* -
  • Data from 483 patients indicated that NMOSD patients reached significant disability milestones much sooner than MOGAD patients, despite similar attack rates; older age at symptom onset was linked to higher disability risk.* -
  • Overall, NMOSD and MOGAD exhibit different patterns of disability progression, with MOGAD being less severe, and recent research has enhanced awareness and treatment strategies, positively impacting patient outcomes.*
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Objectives: Detection and prediction of disability progression is a significant unmet need in people with progressive multiple sclerosis (PwPMS). Government and health agencies have deemed the use of patient-reported outcomes measurements (PROMs) in clinical practice and clinical trials a major strategic priority. Nevertheless, data documenting the clinical utility of PROMs in neurological diseases is scarce.

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