Publications by authors named "Franziska Di Pauli"

Background: No standardized strategy for integrating κ-free light chain (κ-FLC) index into routine cerebrospinal fluid (CSF) diagnostics has yet been established.

Objective: To determine agreement between κ-FLC index and CSF-restricted oligoclonal bands (OCB), and to identify κ-FLC index range where second-line OCB testing is needed.

Methods: A retrospective analysis was conducted in patients who had κ-FLC measurement between December 2023 and December 2024 at the Medical University of Innsbruck.

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Objective: To investigate whether the VIAADISC score predicts disease reactivation in relapsing multiple sclerosis (RMS) after de-escalation/discontinuation of disease-modifying-therapy (DMT) METHODS: We included RMS patients who i) received any DMT other than interferon-beta or glatiramer-acetate ≥12 months, ii) de-escalated/discontinued DMT, iii) had MRI before de-escalation/discontinuation, and iv) had ≥12 months of follow-up. VIAADISC score (0-6; age <45/45-54/≥55 = 2/1/0 points, MRI activity = 2 points, duration without clinical disease activity <4/4-8/>8 years = 2/1/0 points) was calculated. The primary endpoint was disease reactivation (relapse and/or disability progression).

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Background: Erythropoietin (EPO) plays a crucial role in the early adaption to high altitude and is possibly involved in neuroprotection. Neurofilament light chain (NfL) is an established marker of neuroaxonal damage.

Objective: To investigate whether EPO dynamics in simulated high altitude are linked to neuroaxonal damage as measured by NfL.

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Background: The diagnosis of Varicella-zoster virus related neurological disease (VZD) and Lyme neuroborreliosis (LNB) is based on clinical presentation as well as cerebrospinal fluid (CSF) results.

Objectives: To evaluate and compare the diagnostic utility of oligoclonal bands (OCB) and the κ-free light chain (FLC) index in patients with VZD and LNB.

Methods: Patients with the diagnosis of VZD or LNB at the Department of Neurology of the Medical University of Innsbruck between 2008 to 2020 were included.

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Objective: To investigate whether the rs10191329 risk allele in the DYSF-ZNF638 locus, which is implicated in central nervous system resilience rather than immune-mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS).

Methods: From a prospective observational study, we included RMS patients with ≥ 2 optical coherence tomography (OCT) scans, excluding eyes with optic neuritis during the observation period. DNA samples were genotyped using the Illumina Infinium Global Screening Array-24 and variants imputed using the Haplotype Reference Consortium panel and Minimac4.

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Huntington´s Disease (HD) is an autosomal dominant, neurodegenerative disorder with characteristic motor, behavioural, and cognitive impairment. Mutant Huntingtin may also affect peripheral tissue. We aimed to assess skeletal muscle (SMM) and fat mass, sarcopenia (EWGSOP2), and malnutrition in HD patients in early disease stages compared to age- and sex-matched healthy subjects.

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Objectives: This study aims to assess the efficacy of de-escalating from natalizumab (NTZ) to cladribine (CLAD), dimethyl fumarate (DMF), fingolimod (FTY), ponesimod (PONE), siponimod (SIPO) and teriflunomide (TERI).

Material And Methods: We analyzed data from 388 patients in the Austrian MS Treatment Registry who initiated NTZ treatment and remained on therapy for at least 3 months before switching to one of the moderately effective therapies within 1 year. Patients were required to remain on the de-escalation therapy for at least 3 months.

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Background: The prognostic value of κ-free light chain (κ-FLC) index over the long term is unknown.

Objectives: The objective of the study was to determine whether κ-FLC index determined at disease onset predicts relapse activity and disability accrual during long-term follow-up.

Methods: Patients with a first demyelinating event of the central nervous system who had cerebrospinal fluid and serum sampling were eligible for inclusion.

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Objectives: To investigate whether frozen storage duration influences κ-FLC index.

Methods: CSF and serum samples of patients with multiple sclerosis collected for routine diagnostic purposes had been stored at -20 °C. κ-FLC and albumin concentrations were measured at two different timepoints, i.

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Background: Reduced bone mass and increased osteoporosis risk are common in people with multiple sclerosis (pwMS). The aim of the study was to identify risk factors for short-term bone loss in MS.

Methods: This prospective study included 139 pwMS (ages 18-65).

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Background: Demyelinating acute transverse myelitis (ATM) may occur as part of the clinical presentation in multiple sclerosis (MS) as well as neuromyelitis optica spectrum disorder (NMOSD) and myelin-oligodendrocyte-glycoprotein antibody associated disease (MOGAD). However, some patients with demyelinating ATM do not fulfill diagnostic criteria of MS, NMOSD or MOGAD and some of these even experience more than one spinal relapse. As double-AQP4/MOG-seronegative demyelinating ATM (DSD-ATM) is poorly investigated so far and treatment recommendations for these patients are lacking, we aimed to investigate clinical features and outcome of these patients.

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Introduction: Prognostication after subarachnoid hemorrhage (SAH) is essential to guide clinical management and improve patient care.

Objective: To investigate whether decay rates of cerebrospinal fluid (CSF) red blood cells (RBC) and total protein (TP) after SAH predict functional outcome at 3 months.

Methods: Patients with SAH treated at the Neurological Intensive Care Unit Innsbruck with a first CSF sample (CSFfirst) within 72 h after admission and at least one subsequent sample were eligible for inclusion.

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We report an exceptional case of immune-mediated necrotizing myopathy (IMNM) associated with anaplastic large cell lymphoma (ALCL). A 26-year-old female patient presented with subacute bilateral proximal muscle weakness and myalgia, highly elevated creatin kinase (CK), and seropositivity for anti-SRP antibodies. Tumor screening by FDG-PET/CT detected an enlarged axillary lymph node with high FDG uptake.

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Objectives: To investigate whether renal function impacts CSF κ-FLC concentration and/or κ-FLC index.

Methods: Patients with non-inflammatory neurological diseases were eligible. κ-FLC index was calculated as (CSF κ-FLC/serum κ-FLC)/albumin quotient.

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Background: Recognizing familiar faces and identifying emotions through facial expressions are essential for social functioning. This study aimed to examine whether people with relapsing-remitting multiple sclerosis (PwMS) differ from healthy control individuals (HC) in their performance on different tasks related to facial emotion processing.

Methods: In a cross-sectional controlled study, 30 PwMS and 35 HC completed a baseline neuropsychological evaluation and experimental tasks assessing visual exploration of facial stimuli through eye tracking, facial emotion recognition, and facial memory recognition.

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Introduction: Lumbar puncture (LP) is a routine clinical procedure and, in some cases, is repeatedly performed for diagnostic or therapeutic reasons. The impact of repeated LP on cerebrospinal fluid (CSF) findings is not clear.

Objective: To investigate whether repeated LP is associated with reactive pleocytosis and disruption of blood-CSF barrier function and to determine the role of interval between repeated LP.

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The development of disease-modifying therapies (DMTs) for the treatment of multiple sclerosis (MS) has been highly successful in recent decades. It is now widely accepted that early initiation of DMTs after disease onset is associated with a better long-term prognosis. However, the question of when and how to de-escalate or discontinue DMTs remains open and critical.

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Objective: To investigate retinal layer thinning as a biomarker of disease-modifying treatment (DMT) effects in relapsing multiple sclerosis (RMS).

Methods: From an ongoing prospective observational study, we included patients with RMS, who (i) had an optical coherence tomography (OCT) scan within 6 to 12 months after DMT start (rebaseline) and ≥1 follow-up OCT ≥12 months after rebaseline and (ii) adhered to DMT during follow-up. Differences between DMT in thinning of peripapillary-retinal-nerve-fiber-layer (pRNFL) and macular ganglion cell-plus-inner plexiform-layer (GCIPL) were analyzed using mixed-effects linear regression.

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Objective: To investigate the impact of transition interval length when switching from natalizumab (NTZ) to anti-CD20 monoclonal antibodies (antiCD20) on recurrent disease activity and safety in relapsing multiple sclerosis (RMS).

Methods: Aggregating data from 8 MS centres in Austria, Switzerland, and Germany, we included RMS patients who (i) continuously received NTZ for ≥3 months, (ii) were switched to antiCD20, and (iii) had ≥12 months follow-up after switch. The primary endpoint was occurrence of relapse after switch, secondary endpoints included severe infections (CTCAE grade ≥3).

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Background: Different definitions of disability progression by Expanded Disability Status Scale (EDSS) may influence frequency and/or time to event.

Methods: In this multicenter cohort study, we included PPMS patients with follow-up ≥24 months and ≥3 available EDSS scores overall (≥1 per year). We applied 672 definitions of disability progression including different minimal EDSS increase, required confirmation and fixed/roving-baseline score.

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Background: Neurological symptoms are common in acute mountain sickness (AMS); however, the extent of neuroaxonal damage remains unclear. Neurofilament light chain (NfL) is an established blood biomarker for neuroaxonal damage.

Objective: To investigate whether plasma (p) NfL levels increase after simulated altitude exposure, correlate with the occurrence of AMS, and might be mitigated by preacclimatization.

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Background And Purpose: Prognostication in patients with spontaneous subarachnoid hemorrhage (SAH) can be challenging. The aim of this study was to assess whether cerebrospinal fluid (CSF) red blood cell (RBC) count and total protein (TP) concentration are associated with SAH prognosis.

Methods: Patients with SAH treated at the neurological intensive care unit (ICU) in Innsbruck were included in this real-world, observational study.

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Background And Objectives: Isolated value of MRI metrics in relapsing multiple sclerosis (RMS) as a surrogate marker of response to disease-modifying treatment (DMT) and, thus, as decision criteria for DMT escalation in the absence of clinical signs of disease activity is still a matter of debate. The aim of this study was to investigate whether DMT escalation based on isolated MRI activity affects clinical outcome.

Methods: Combining data from 5 MS centers in Austria and Switzerland, we included patients with RMS aged at least 18 years who (1) had initiated first-line, low-to-moderate-efficacy DMT (interferon β, glatiramer acetate, teriflunomide, or dimethyl fumarate) continued for ≥12 months, (2) were clinically stable (no relapses or disability progression) on DMT for 12 months, (3) had MRI at baseline and after 12 months on DMT, and (4) had available clinical follow-up for ≥2 years after the second MRI.

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Article Synopsis
  • Using a rebaselining concept can help reduce measurement noise in retinal layer thinning in patients with relapsing multiple sclerosis (RMS) by recalibrating assessments after treatment begins.
  • In a study involving 173 RMS patients, significant increases in retinal layer thinning were associated with relapses and worsening disability before treatment, but not with the type of disease-modifying treatment (DMT) used.
  • The findings suggest that rebaselining enhances the ability to distinguish the effects of different DMTs on retinal layer thinning by minimizing the influence of prior disease activity.
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Background/objective: Observational real-world study to analyze the clinical effects of alemtuzumab (ALEM) and subsequent disease-modifying therapy (DMT) usage in multiple sclerosis (MS).

Methods: Data retrieved from the Austrian MS treatment registry (AMSTR) included baseline (BL) characteristics (at ALEM start), annualized relapse rate (ARR), 6-month confirmed progression independent of relapse activity (PIRA; ≥ 0.5-point Expanded Disability Status Scale (EDSS) score increase), 6-month confirmed disability improvement (CDI; ≥ 0.

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