A5056843435- Myasthenia Gravis and Thymoma
- Peripheral Neuropathies and Disorders
- Amyotrophic Lateral Sclerosis Research
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Ion channel regulation and function
- Antifungal resistance and susceptibility
- Cellular transport and secretion
- Prion Diseases and Protein Misfolding
- Cardiomyopathy and Myosin Studies
- Information and Cyber Security
- Hereditary Neurological Disorders
- Nicotinic Acetylcholine Receptors Study
- Autoimmune Neurological Disorders and Treatments
- Genomics and Rare Diseases
- Pharmaceutical Practices and Patient Outcomes
- Platelet Disorders and Treatments
- Parkinson's Disease and Spinal Disorders
- Monoclonal and Polyclonal Antibodies Research
- Education Practices and Challenges
- Multiple Sclerosis Research Studies
- Dementia and Cognitive Impairment Research
- Neurological diseases and metabolism
- Values and Moral Education
Medical University of Vienna
2015-2024
Dicle University
2023
Siirt Üniversitesi
2020-2022
University of Oxford
2017-2020
Innsbruck Medical University
2020
Universität Innsbruck
2020
John Radcliffe Hospital
2017-2019
Van Yüzüncü Yıl Üniversitesi
2017
Akdeniz University
2015-2016
State Planning Organization
2016
Valosin-containing protein (VCP) disease, caused by mutations in the
<b><i>Objectives:</i></b> To assess the epidemiology of ALS in Austria and to evaluate long-term effect riluzole treatment on survival. <b><i>Methods:</i></b> Hospital discharge prescription databases were used identify cases from January 2008 June 2012. Using capture-recapture method we evaluated incidence prevalence patients' survival dependence age, gender treatment. <b><i>Results:</i></b> The corrected 3.13/100,000...
The efficacy of anticholinesterase medication may diminish over time. Vanhaesebrouck et al. use an animal model acetylcholine receptor deficiency syndrome to show that beta-2 adrenergic agonists ameliorate the damage neuromuscular junction structure caused by prolonged medication, and thereby counteract decline in efficacy.
Abstract Repetitive nerve stimulation (RNS) is a standard test for the diagnosis of myasthenia gravis (MG), where decrement compound muscle action potentials (CMAP) corresponds to clinical fatigability. Our aim was ascertain diagnostic and prognostic utility RNS in MG patients. This study included patients treated between 01/2000 12/2016, with an observational period at least one year minimum two neurological examinations. Clinical electrophysiological data were retrospectively gathered from...
To describe disease outcomes of myasthenia gravis (MG) subgroups and which factors influence by reviewing individual patient records a representative cohort.We performed retrospective analysis 199 patients with generalized MG onset after the year 2000 who were treated at 2 tertiary referral centers in Austria. We stratified as early- late-onset acetylcholine receptor antibody-positive, muscle-specific tyrosine kinase (MuSK) seronegative thymoma regardless antibody status. evaluated patients'...
Abstract Introduction/Aims The clinical presentation of multifocal motor neuropathy (MMN) may mimic early amyotrophic lateral sclerosis (ALS) with predominant lower neuron (LMN) involvement, posing a diagnostic challenge. Both diseases have specific treatments and prognoses, highlighting the importance diagnosis. aim this study was to assess value serum neurofilament light chain (NfL) in differentiating MMN from LMN dominant ALS. Methods NfL measured n = 37 patients age‐ sex‐matched ALS,...
Background and purpose Several small retrospective studies have observed that patients with a purely ocular manifestation of myasthenia gravis (MG) are significantly less likely to convert generalized disease when treated early on corticosteroids. However, given the limited number reported in literature these findings still remain controversial. Methods In order increase published cases, we performed analysis 44 newly diagnosed MG who were subsequently either corticosteroids or received no...
Abstract Background To investigate the frequency and characterize clinical features of treatment-refractory myasthenia gravis in an Austrian cohort. Methods Patient charts 126 patients with generalized onset between 2000 2016 were analyzed retrospectively. Patients classified as according to strict, predefined criteria. These mandated being at least moderately symptomatic (i.e., MGFA class III) or needing either maintenance immunoglobulins plasma exchange therapy for 1 year spite two...
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments available, CMS is probably underdiagnosed, and systematic clinico-genetic investigations warranted.We used nationwide approach to collect Austrian patients with genetically confirmed CMS. We provide clinical molecular characterization this cohort aimed ascertain the current frequency Austria.Twenty-eight cases...
The neuromuscular junction (NMJ) is the synapse between motoneurons and skeletal muscle, responsible for eliciting muscle contraction. Neurotransmission at synapses depends on release of synaptic vesicles sites called active zones (AZs). Various proteins extracellular matrix are crucial NMJ development; however, little known about identity functions receptors that mediate their effects. Using genetically modified mice, we find integrin-α3 (encoded by
To assess the incidence rate and prevalence ratio of multiple sclerosis (MS) in Austria.Hospital discharge diagnosis MS-specific immunomodulatory treatment prescriptions from public health insurances, covering 98% Austrian citizens with insurance were used to extrapolate numbers based on capture-recapture method.A total 1,392,629 medication 40,956 hospitalizations extracted 2 data sources, leading a 13,205 patients. The MS Austria method 19.5/100,000 person-years (95% CI 14.3-24.7)...
Background and purpose Next‐generation sequencing has greatly improved the diagnostic success rates for genetic neuromuscular disorders ( NMD s). Nevertheless, most patients still remain undiagnosed, there is a need to maximize yield. Methods A retrospective study was conducted on 72 with s who underwent exome ES ), partly followed by genotype‐guided reassessment secondary investigations. The yields that would have been achieved appropriately chosen narrow comprehensive gene panels were also...
Albuminocytologic dissociation in cerebrospinal fluid (CSF) is a diagnostic hallmark of Guillain-Barré syndrome (GBS). Compared to CSF total protein (TP), the CSF/serum albumin quotient (Qalb) has advantage method-independent reference ranges. Whether yield differs between Qalb and CSF-TP currently unknown.We retrospectively analyzed (i.e., value above URL indicating blood-nerve barrier dysfunction) levels patients with GBS. We evaluated two different equations (Reiber's Hegen's) for...
This study was undertaken to investigate short- and long-term outcome following thymectomy in patients with acetylcholine receptor antibody (AChR-Ab)-positive myasthenia gravis (MG).Rates of clinical response (defined as minimal manifestation, pharmacological remission, or complete stable remission) lasting for at least 1 year were retrospectively analyzed using Cox proportional hazard models. The occurrence relapses recorded during follow-up. Clinical factors associated achieving an initial...
Multifocal motor neuropathy (MMN) is a rare and detailed descriptions of larger patient cohorts are scarce. The objective this study was to evaluate epidemiological, clinical, laboratory features MMN patients their response treatment in Austria compare these data with those from the literature.Anonymized demographic clinical about until 31.12.2017 were collected registered Austrian neurologists. Exploratory statistics on as well regimens responses performed.57 Patients identified, resulting...
ObjectiveNerve conduction studies (NCS) are essential to differentiate between demyelinating and axonal subtypes in Guillain-Barré syndrome (GBS). However, it is debated which extent the delay of NCS after symptom onset repeated measurements during disease course influence diagnostic accuracy.MethodsWe evaluated 93 patients with a classical GBS applying two widely used criteria (Hadden's Rajabally's). The initial were compared follow-up where available (n = 43). We analyzed timing clinical...
Abstract We report here the sequence and functional characterization of a recombinantly expressed autoantibody (mAb 131) previously isolated from myasthenia gravis patient by immortalization thymic B cells using Epstein-Barr virus TLR9 activation. The antibody is characterized high degree somatic mutations as well 6 amino acid insertion within VHCDR2. recombinant mAb 131 specific for γ-subunit fetal AChR to which it bound with sub-nanomolar apparent affinity, detected presence on number...
Direct inhibition of acetylcholine receptor (AChR) function by autoantibodies (Abs) is considered a rare pathogenic mechanism in myasthenia gravis (MG), but usually studied on AChRs expressed cell lines, rather than tightly clustered the intracellular scaffolding protein, rapsyn, as at intact neuromuscular junction. We hypothesised that would provide better target for investigating functional effects AChR-Abs.Acetylcholine-induced currents were measured using whole-cell patch clamping and...