Tim Hagenacker
A5031675925- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- RNA modifications and cancer
- Pain Mechanisms and Treatments
- Amyotrophic Lateral Sclerosis Research
- Myasthenia Gravis and Thymoma
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Cancer Treatment and Pharmacology
- Peripheral Neuropathies and Disorders
- Muscle Physiology and Disorders
- Ion channel regulation and function
- Parkinson's Disease and Spinal Disorders
- RNA Research and Splicing
- Parathyroid Disorders and Treatments
- Ion Channels and Receptors
- Cardiomyopathy and Myosin Studies
- Parkinson's Disease Mechanisms and Treatments
- Antifungal resistance and susceptibility
- Neuroscience and Neuropharmacology Research
- Hereditary Neurological Disorders
- Autoimmune Neurological Disorders and Treatments
- Cardiac Structural Anomalies and Repair
- Pain Management and Placebo Effect
- Peptidase Inhibition and Analysis
- Spinal Dysraphism and Malformations
Essen University Hospital
2016-2025
University of Duisburg-Essen
2015-2025
Klinik und Poliklinik für Neurologie
2014-2025
Helmholtz Zentrum München
2019
Technical University of Munich
2019
Johns Hopkins Medicine
2017
Johns Hopkins University
2017
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift C-terminal domain KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together observation that many genes amyotrophic lateral sclerosis disrupt cytoskeletal function intracellular...
<h3>Importance</h3> Intravenous edaravone is approved as a disease-modifying drug for patients with amyotrophic lateral sclerosis (ALS), but evidence efficacy limited to short-term beneficial effects shown in the MCI186-ALS19 study subpopulation which was expected. <h3>Objective</h3> To evaluate long-term safety and effectiveness of intravenous therapy ALS real-world clinical setting. <h3>Design, Setting, Participants</h3> Multicenter, propensity score–matched cohort conducted between June...
Myasthenic crisis (MC) and disease exacerbation in myasthenia gravis (MG) are associated with significant lethality continue to impose a high burden on affected patients. Therefore, we sought determine potential predictors for MC as well identify factors affecting outcome.
Myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and congenital syndromes (CMS) represent an etiologically heterogeneous group of (very) rare chronic diseases. MG LEMS have autoimmune-mediated etiology, while CMS are genetic disorders. A (strain dependent) muscle weakness due to neuromuscular transmission disorder is a common feature. Generalized requires increasingly differentiated therapeutic strategies that consider the enormous developments recent years. To include...
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...
Abstract Background Transcranial direct current stimulation (tDCS) of the primary motor cortex has been shown to modulate pain and trigeminal nociceptive processing. Methods Ten patients with classical neuralgia (TN) were stimulated daily for 20 minutes over two weeks using anodal (1 mA) or sham tDCS (M1) in a randomized double-blind cross-over design. Primary outcome variable was intensity on verbal rating scale (VRS 0–10). VRS attack frequency assessed one month before, during after tDCS....
Abstract 5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the leading symptom of proximal muscle weakness. Three different drugs have been approved by European Medicines Agency and Food Drug Administration for treatment patients, however, long-term experience still scarce. In contrast to clinical trial data restricted patient populations short observation periods, we report here real-world evidence on broad spectrum patients early-onset treated nusinersen focusing...
Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) risdiplam in previously treated pediatric adult types 1–3 SMA. Here, an analysis performed after all had received at least 1 year risdiplam. Patients confirmed diagnosis 5q-autosomal recessive SMA between ages 6 months 60 years were...
Background Myasthenia gravis (MG) is an autoimmune disorder affecting neuromuscular junctions, leading to fluctuating muscle weakness. While many patients respond well standard immunosuppression, a substantial subgroup faces ongoing disease activity. Emerging treatments such as complement factor C5 inhibition (C5IT) and neonatal Fc receptor (FcRn) antagonism hold promise for these patients. However, the current landscape hindered by paucity of comparative data that crucial treatment...
Abstract The activation of T helper cells requires antigens to be exposed on the surface antigen presenting (APCs) via MHC class II (MHC-II) molecules. Expression MHC-II is generally limited professional APCs, but other cell types can express under inflammatory conditions. However, importance these conditional APCs unknown. We and others have previously shown that Schwann are potentially functional relevance expression by has not been studied in vivo . Here, we conditionally deleted β-chain...
Nusinersen is an intrathecally administered antisense oligonucleotide (ASO) and the first approved drug for treatment of spinal muscular atrophy (SMA). However, progressive neuromyopathic scoliosis presence spondylodesis can impede lumbar punctures in SMA patients. Our aim was to assess feasibility safety adults with SMA.For intrathecal administration nusinersen, we performed conventional, fluoroscopy-assisted computer tomography (CT)-guided adult patients type 2 3 SMA. We documented any...
Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease which affects 1 in 6,000–10,000 live births, caused by loss of the survival gene (SMN1). A major focus therapeutic developments has been on increasing full-length SMN protein inclusion exon 7 SMN2 transcripts, enhancing expression, stabilizing or replacing SMN1 gene. In June 2017, FDA and EMA have approved antisense oligonucleotide Nusinersen as first treatment for all SMA subtypes without age...
Abstract Objective To determine whether serum creatine kinase activity (CK) and creatinine concentration (Crn) are prognostic predictive biomarkers for disease severity, progression, nusinersen treatment effects in adult patients with 5q‐associated spinal muscular atrophy (SMA). Methods Within this retrospective, multicenter observational study 206 SMA, we determined clinical subtypes (SMA types, ambulatory ability) repeatedly measured CK Crn examined severity scores (Hammersmith Functional...
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that causes progressive autonomy loss and need for care. This does not only affect patients themselves, but also the patients’ informal caregivers (CGs) in their health, personal professional lives. The big efforts of this multi-center study were to evaluate caregivers’ burden identify its predictors, it should provide specific understanding needs ALS CGs fill gap knowledge on work Using standardized questionnaires,...
Abstract Aims The study aimed to investigate the prevalence, phenotypic characteristics, and predictors of atrial fibrillation (AF) in patients presenting with cardiac amyloidosis (CA) light‐chain (AL) or transthyretin (ATTR) type. Methods results Clinical, biochemical, echocardiographic data CA between 2005 2020 were retrospectively collected. staging was based on established biomarker systems. Binomial logistic regression run analyse effects clinical variables likelihood AF. included 133...