A5071871403- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- DNA Repair Mechanisms
- Vestibular and auditory disorders
- Neurological disorders and treatments
- Microtubule and mitosis dynamics
- Advanced Neuroimaging Techniques and Applications
- Acute Ischemic Stroke Management
- Traumatic Brain Injury and Neurovascular Disturbances
- CRISPR and Genetic Engineering
- Renal and related cancers
- Wnt/β-catenin signaling in development and cancer
- Erythrocyte Function and Pathophysiology
- Advancements in Transdermal Drug Delivery
- RNA Research and Splicing
- Hearing, Cochlea, Tinnitus, Genetics
- Ubiquitin and proteasome pathways
- Ocular Surface and Contact Lens
- Sepsis Diagnosis and Treatment
- Pluripotent Stem Cells Research
- Fibroblast Growth Factor Research
- Genetics and Neurodevelopmental Disorders
- Pain Mechanisms and Treatments
University of Duisburg-Essen
2021-2025
Essen University Hospital
2023-2025
University of Lübeck
2018
Abstract Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia (SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 AAG repeats (full penetrance), but the sequence non-pathogenic remains unexplored. Here, we demonstrate that STRling ExpansionHunter accurately detect from short-read genome data using outlier approaches. By combining long-range PCR nanopore sequencing 169 patients 802 controls, compare expansion alleles, including...
Abstract Background Patient‐focused outcomes present a central need for trial‐readiness across all ataxias. The Activities of Daily Living part the Friedreich Ataxia Rating Scale (FARS‐ADL) captures functional impairment and longitudinal change but is only validated in Ataxia. Objective Validation FARS‐ADL regarding disease severity patient‐meaningful impairment, its sensitivity to genetic Methods Real‐world registry data 298 ataxia patients genotypes were analyzed, including (1)...
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly inherited adult-onset disease. We aimed to describe longitudinal changes in clinical and biological findings identify predictors for progression. Methods used data from participants enrolled the ESMI cohort collected between Nov 09, 2016 July 18, 2023. The freeze included 14 sites five European countries United States. assessed with Scale Assessment Rating of Ataxia (SARA). measured disease-specific mutant...
Recent rodent data suggest that the cerebellum – a region typically associated with processing sensory prediction errors (PEs) also processes PEs in reinforcement learning (RL-PEs; i.e., from action outcomes). We tested whether cerebellar output is necessary for RL-PE regions more traditionally action-outcome processing, such as striatum and anterior cingulate cortex. The feedback-related negativity (FRN) was measured proxy of cerebral probabilistic feedback task using...
To survive and thrive in our ever-changing environment, we need to be able predict the consequences of actions. We update these predictions by learning through trial error, associated prediction errors (PEs). Recent rodent data suggest that cerebellum – a region typically with processing sensory PEs supervised error-based also processes reinforcement (RL-PEs; i.e., from action outcomes). A proxy outcome regions traditionally RL-PE coding, such as striatum anterior cingulate cortex, can...
Abstract Repeat expansions in the FGF14 gene have recently been identified as a frequent cause of autosomal dominant late-onset cerebellar ataxia (SCA27B). The threshold for pathogenicity was estimated to range from 250 (incomplete penetrance) 300 AAG repeats (full based on expansion sizes observed patients and controls. However, full sequences pathogenic non-pathogenic alleles remain largely unknown. In this study, we used STRling ExpansionHunter/STRipy detect short tandem repeat short-read...
Abstract Background Immune-mediated neuropathies, such as chronic inflammatory demyelinating polyneuropathy (CIDP) are treatable neuropathies. Among individuals with diabetic neuropathy, it remains a challenge to identify those who develop CIDP. Corneal confocal microscopy (CCM) has been shown detect corneal nerve fiber loss and cellular infiltrates in the sub-basal layer of cornea. The objective study was determine whether CCM can distinguish neuropathy from CIDP persons coexisting...
<title>Abstract</title> Repeat expansions in <italic>FGF14</italic>cause autosomal dominant late-onset cerebellar ataxia (SCA27B), with pathogenic thresholds estimated between 250 and 300 AAG repeats. However, the complete sequences of non-pathogenic alleles remain largely unknown. Here, we identify <italic>FGF14</italic> repeat as most commonly missed cause using a combination short-read genome sequencing, long-range PCR nanopore sequencing. We compare 154 patients 802 controls report an...
To survive and thrive in our ever-changing environment, we need to be able predict the consequences of actions. We update these predictions by learning through trial error, associated prediction errors (PEs). Recent rodent data suggest that cerebellum – a region typically with processing sensory PEs supervised error-based also processes reinforcement (RL-PEs; i.e., from action outcomes). A proxy outcome regions traditionally RL-PE coding, such as striatum anterior cingulate cortex, can...
Lesion-behavior mapping in patients with focal cerebellar lesions provides important insights into functional compartmentalization of the cerebellum. Advances magnetic resonance brain imaging have made it possible to map functions even small structures such as dentate nucleus. Although do not strictly follow boundaries lobules, precise delineation individual lobules is nonetheless an prerequisite localize within cortex. In this review, we will summarize recent findings disordered cognitive...
Abstract Despite linkage to 16q in 1996, the mutation for spinocerebellar ataxia type 4 (SCA4), a late-onset sensory and cerebellar ataxia, escaped detection 25 years. Using long- read PacBio-HiFi ONT-Nanopre sequencing bioinformatic analysis, we identified expansion of GGC DNA repeat >85% GC-rich region exon 10 ZFHX3 gene coding poly-glycine (polyG). In total 15 nuclear families from Utah 9 Europe, was expanded >40 repeats SCA4 patients accompanied by significant phenotypic variation...
Introduction: Neurocritical care patients with neurovascular disease often face poor long-term outcomes, highlighting the pivotal role of evidence-based interventions. Although International Guidelines emphasize managing basic physiological parameters like temperature, blood glucose, pressure, and oxygen levels, physician adherence to these targets remains uncertain. This study aimed assess guideline-based treatment for in neurocritical care. Patients Methods: multicenter observational was...
Abstract Introduction Knowledge about the distribution and frequency of respective haplotypes on wildtype mutant allele is highly relevant in context future gene therapy clinical studies Spinocerebellar Ataxia Type 3, most common autosomal dominantly inherited ataxia. Single nucleotide polymorphisms associated to disease-causing gene, ATXN3 , have been determined. We wanted investigate regional two intragenic single (SNPs) a large European SCA3 cohort their relation phenotype. Methods The...
Abstract Background Cognitive and neuropsychiatric impairment, known as cerebellar cognitive affective syndrome (CCAS), may be present in disorders. This study identified distinct CCAS subtypes patients using cluster analysis. Methods The German CCAS-Scale (G-CCAS-S), a brief screening test for CCAS, was assessed 205 200 healthy controls. K-means analysis applied to G-CCAS-S data identify clusters patients. Demographic clinical variables were used characterize the clusters. Multiple linear...
The human iPS cell line VUZUZLi001-A (hVH-1) was generated from foreskin fibroblasts to be used as a control line. Reprogramming performed by retroviral transduction of reprogramming factors OCT4, SOX2, KLF4 and c-MYC. Resource tableUnique stem identifierVUZUZLi001-AAlternative name(s) linehVH-1InstitutionInstitute Virology Cell Biology, University LübeckContact information distributorJürgen Rohwedel, [email protected]Type lineiPSCOriginhumanAdditional origin infoAge: unknownSex:...
Abstract With SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias intuitively without technical effort. Basic concept is visualization data, with graphical handling filtering select define subgroups their comparison. Several plot types visualize all data points resulting from selected attributes are provided. The underlying synthetic cohort based on clinical five different European US longitudinal...