A5054809575- Neurogenetic and Muscular Disorders Research
- Epilepsy research and treatment
- Congenital Anomalies and Fetal Surgery
- Neuroscience and Neuropharmacology Research
- Pharmacological Effects and Toxicity Studies
- Amyotrophic Lateral Sclerosis Research
- RNA modifications and cancer
- Receptor Mechanisms and Signaling
- Spinal Dysraphism and Malformations
- Neurotransmitter Receptor Influence on Behavior
- Parkinson's Disease Mechanisms and Treatments
- Amino Acid Enzymes and Metabolism
- Bipolar Disorder and Treatment
- Data-Driven Disease Surveillance
- Muscle Physiology and Disorders
- Drug Transport and Resistance Mechanisms
- Pharmacovigilance and Adverse Drug Reactions
- Poisoning and overdose treatments
- Peripheral Neuropathies and Disorders
- Electroconvulsive Therapy Studies
- Respiratory and Cough-Related Research
- Metabolism and Genetic Disorders
- Cellular transport and secretion
- Herbal Medicine Research Studies
- Amyloidosis: Diagnosis, Treatment, Outcomes
Universität Ulm
2015-2025
University and Rehabilitation Clinics Ulm
2018-2025
University Hospital Ulm
2015-2024
SMART Reading
2024
University of Lausanne
2022
Goethe University Frankfurt
2022
Klinikum Osnabrück
2022
University Hospital of Lausanne
2022
Medical University of Vienna
2011-2014
In April 2023, the antisense oligonucleotide tofersen was approved by U.S. Food and Drug Administration (FDA) for treatment of
Evidence for the efficacy of nusinersen in adults with 5q-associated spinal muscular atrophy (SMA) has been demonstrated up to a period 16 months relatively large cohorts but whereas patients reach plateau over time is still be demonstrated. We investigated and safety SMA 38 months, longest date cohort from multiple clinical sites. Our prospective, observational study included adult Germany, Switzerland, Austria (July 2017 May 2022). All participants had genetically-confirmed, were treated...
Objective To investigate the initial termination rate of status epilepticus (SE) in a large observational study and explore associated variables. Methods Data adults treated for SE were collected prospectively centers Germany, Austria, Switzerland, during 4.5 years. Incident episodes 1,049 patients analyzed using uni‐ multivariate statistics to determine factors predicting cessation within 1 hour (for generalized convulsive [GCSE]) 12 hours non‐GCSE) initiating treatment. Results Median age...
Serotonin (5-HT) uptake by the human serotonin transporter (hSERT) is driven ion gradients. The stoichiometry of transported 5-HT and ions predicted to result in electroneutral charge movement. However, hSERT mediates a current when challenged with 5-HT. This discrepancy can be accounted for an uncoupled flux. Here, we investigated mechanistic basis currents its relation conformational cycle hSERT. Our observations support conclusion that conducting state underlying flux equilibrium inward...
Dopaminergic signaling and plasticity are essential to numerous CNS functions pathologies, including movement, cognition, addiction. The amphetamine- cocaine-sensitive dopamine (DA) transporter (DAT) tightly controls extracellular DA concentrations half-life. DAT function surface expression not static but dynamically modulated by membrane trafficking. We recently demonstrated that the C terminus encodes a PKC-sensitive internalization signal also suppresses basal endocytosis. However,...
There is limited information on neurochemical markers being used to support and monitor the affection of motoneurons in patients with spinal muscular atrophy (SMA). The objective this study was examine cerebrospinal fluid (CSF) under treatment antisense-oligonucleotide (ASO), nusinersen.We measured axonal degeneration [neurofilament light chain (NfL) phosphorylated neurofilament heavy (pNfH)] along basic CSF parameters 25 adolescent adult SMA type 2 3 at baseline after four intrathecal...
This was an investigation of treatment expectations and the perception therapy in adult patients with 5q-associated spinal muscular atrophy (5q-SMA) receiving nusinersen.A prospective, non-interventional observational study nusinersen 5q-SMA conducted at nine SMA centers Germany. The functional status, perceived outcomes were assessed using Amyotrophic Lateral Sclerosis Functional Rating Scale-extended (ALS-FRS-ex), Measure Yourself Medical Outcome Profile (MYMOP2), Treatment Satisfaction...
Refractory status epilepticus (RSE) bears significant morbidity and mortality. Therapy escalation in some cases intubation are recommended. Most existing studies retrospective focus on intensive care units. We aimed to describe routine-care management analyze determinants of RSE development outcomes a large multicenter cohort.We performed post hoc analysis an observational, cohort study, which prospectively registered all consecutive adults with SE at 9 centers from 3 central European...
Objective Neurofilaments are key axonal proteins, with neurofilament light (NfL) and heavy (NfH) chain recognized as promising biomarkers for neurodegenerative diseases such amyotrophic lateral sclerosis (ALS). However, medium (NfM) remained previously underexplored due to a lack of quantitative assays. In this study, we developed sensitive immunoassay measure NfM in cerebrospinal fluid (CSF) analyzed its levels ALS, Alzheimer's disease (AD), frontotemporal dementia (FTD), Lewy body (LBD)....
Hintergrund: Risdiplam (EVRYSDI®) ist zur Behandlung der spinalen Muskelatrophie (SMA) zugelassen. Derzeit als Lösung zum Einnehmen, die täglich mittels einer Spritze aufgezogen werden muss, erhältlich. Für Patientinnen≥20 kg und mit entsprechenden Dosis von 5 mg würde eine bioäquivalente Tablettenformulierung tägliche Einnahme noch weiter vereinfachen.
ABSTRACT Background Amyotrophic lateral sclerdosis (ALS) and spinal muscular atrophy (SMA) are motor neuron diseases associated with distinct metabolic alterations. ALS patients feature an increased resting energy expenditure (REE) causing weight loss cachexia. In SMA, a disturbed utilization of free fatty acids has been described. These alterations negatively affect prognosis in both diseases. The objective this study was to further characterize these changes identify potential therapeutic...
Although in epilepsy patients the likelihood of becoming seizure-free decreases substantially with each unsuccessful treatment, to our knowledge this has been poorly investigated status epilepticus (SE). We aimed evaluate proportion SE cessation and functional outcome after successive treatment steps.
Spinal muscular atrophy (SMA) is a disabling disease that affects not only the patient’s health-related quality of life (HRQoL), but also causes high caregiver burden (CGB). The aim this study was to evaluate HRQoL, CGB, and their predictors in SMA. In two prospective, cross-sectional, multi-center studies, SMA patients (n = 39) patient/caregiver couples 49) filled EuroQoL Five Dimension Level Scale (EQ-5D-5L) Short Form Health Survey 36 (SF-36). Caregivers (CGs) additionally answered Zarit...
Summary Evidence is scarce regarding the treatment of status epilepticus ( SE ). Only a few large randomized controlled trials have been published. Therefore, we set up multicenter registry to prospectively document practice in several different hospitals German‐speaking countries. Over period more than 4 years, were able 1179 episodes 1049 patients who treated for 1 8 participating centers Germany, Austria, and Switzerland. Median age was 70 years. The most frequent etiology remote (32%),...
Background: Nusinersen is an antisense-oligonucleotide (ASO) approved for treatment of 5q spinal muscular atrophy (SMA). Since the drug cannot cross blood-brain barrier, it must be administered into cerebrospinal fluid (CSF) space repeatedly by lumbar puncture. However, little known whether ASOs have impact on CSF routine parameters that may yield information flow and/or intrathecal inflammation. The objective this study was to examine in SMA patients treated with nusinersen. Methods:...
Abstract Background Spinal muscular atrophy (SMA) issues from mutations in the survival of motor neuron (SMN) 1 gene. Loss or reduction SMN protein results progressive muscle weakness. Whether this deficiency also affects cortical function remains unclear. While no data on adult patients exists so far, prior studies children with SMA indicate cognitive abilities equal even superior to healthy controls. This may suggest a possible compensatory—neuropsychological and interactional—process. The...
Background: Spinal Muscular Atrophy (SMA) is a severe neurodegenerative disease, characterized by progressive muscle weakness and atrophy. The approval of the antisense oligonucleotide (ASO) nusinersen now provides an effective pharmacological approach with potential to slow down or stop disease progression potentially major impact on patients' well-being. Objective: This study evaluates quality life (QoL) in pediatric adult patients over course therapy nusinersen. Methods: Twenty-six SMA...
5q-associated spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that leads to progressive muscle and weakness. The disease caused by a homozygous deletion or mutation in the survival of motor neuron 1 (SMN1) gene, resulting insufficient levels SMN protein. Onasemnogene abeparvovec-xioi (OA) nonreplicating vector based on adeno-associated virus serotype 9 (AAV9) contains full-length human SMN1 gene. Recently, OA was approved for treatment SMA U.S. Food Drug...
Abstract Tofersen is the first effective and approved therapy for familial ALS caused by pathogenic variants in SOD1 gene. Following treatment with tofersen, neurofilaments patients CSF serum display a faster response than clinical parameters, underlining their importance as biomarker trials. This evidence led us to hypothesize that this novel might represent an opportunity identify additional therapy-responsive biomarkers ALS. We chose commercial NUcleic acid Linked Immuno-Sandwich Assay...
Background The serotonin transporter (5-HTT) is abundantly expressed in humans by the gene SLC6A4 and removes (5-HT) from extracellular space. A blood-brain relationship between platelet synaptosomal 5-HT reuptake has been suggested, but it unknown today, if uptake can predict neural activation of human brain networks that are known to be under serotonergic influence. Methods functional magnetic resonance study was performed 48 healthy subjects maximal velocity (Vmax) assessed blood...
Abstract Objective Fatigue is a common and burdensome symptom of spinal muscular atrophy. Given its complex interactions, different dimensions fatigue need to be investigated. The Multidimensional Inventory widely used instrument that captures five distinct dimensions. aim this study was investigate the validity reliability German in atrophy evaluate presence clinically relevant fatigue. Methods One hundred forty adult patients completed nationwide, multicenter, cross‐sectional study....