A5010024510- Neurological disorders and treatments
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Neurological diseases and metabolism
- Glycogen Storage Diseases and Myoclonus
- Neuroscience and Music Perception
- Genetics and Neurodevelopmental Disorders
- Neural dynamics and brain function
- Neurogenetic and Muscular Disorders Research
- Restless Legs Syndrome Research
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Heterotopic Ossification and Related Conditions
- RNA regulation and disease
- COVID-19 and Mental Health
- Botulinum Toxin and Related Neurological Disorders
- ATP Synthase and ATPases Research
- Parkinson's Disease and Spinal Disorders
- Tactile and Sensory Interactions
- Healthcare professionals’ stress and burnout
- Cardiomyopathy and Myosin Studies
- Genetic factors in colorectal cancer
- Eating Disorders and Behaviors
- Dental Research and COVID-19
University of Lübeck
2014-2023
University Hospital Schleswig-Holstein
2017-2022
Van Yüzüncü Yıl Üniversitesi
2022
Universitäres Kinderwunschzentrum Lübeck
2017
University of Bonn
2012
To evaluate the frequency and clinical spectrum of recently identified p.D620N mutation in VPS35 gene Parkinson disease (PD) an international sample.Genetic analysis by DNA sequencing detailed neuropsychiatric assessment as well neuroimaging carriers.Tertiary referral centers Germany, Serbia, Chile, United States.One thousand seven hundred seventy-four patients with PD.Frequency mutation.A single carrier was identified. The a 60-year-old German man who had tremor-dominant PD since age 45...
Objective To characterize neurophysiological subcortical abnormalities in myoclonus–dystonia and their modulation by alcohol administration. Methods Cerebellar associative learning basal ganglia–brainstem interaction were investigated 17 patients with epsilon‐sarcoglycan ( SGCE ) gene mutation 21 age‐ sex‐matched healthy controls means of classical eyeblink conditioning blink reflex recovery cycle before after intake resulting a breath concentration 0.08% (0.8g/l). The responsiveness...
Although the genetic load is high in early-onset Parkinson's disease, thorough investigation of diagnostic yield has yet to be established. The objectives this study were assess variants known genes for PD and other movement disorders find new candidates 50 patients with PD.We searched either within listed by International Parkinson Movement Disorder Society Task Force on Genetic Nomenclature or rare homozygous novel candidate genes. Further, exome data from 1148 European (International...
ABSTRACT Background Alterations in mitochondrial dysfunction have been implicated the pathogenesis of Parkinson's disease (PD). Mitochondrial energy production is linked to glucose metabolism, and diabetes associated with PD. However, studies investigating metabolism vivo genetically stratified PD patients controls yet be performed. Objectives The objectives this study were explore production, gluconeogenesis, contribution gluconeogenesis idiopathic PRKN compared healthy state‐of‐the‐art...
Abstract The prerequisite for an earlier diagnosis of Parkinson's disease (PD) are markers that both sensitive and specific clinically definite PD its prediagnosic phases. Promising candidates include enlarged hyperechogenicity the substantia nigra (SN+) on transcranial sonography (TCS) hyposmia. However, despite good sensitivity specificity, have yet failed to yield reliable predictions. We pursue possibility combined use in ongoing population‐based cohort. Subjects were recruited from...
Background . Depression is common in Parkinson’s disease (PD); light of typical PD pathology it may differ phenomenologically from depression the general population. Objective To assess depressive symptoms patients and control groups compare symptom profiles. Methods After postal screening 10,000 citizens Lübeck, 642 participants were examined Beck Inventory (BDI) was sufficiently answered by 477 subjects. Based on motor examinations, we distinguished patients, Healthy Controls (HC, no...
The COVID-19 pandemic has caused not only viral infection-related deaths, but also uncontrollable psychological problems and anxiety in different parts of society. resulted adaption a comprehensive online education period that been previously experienced modern education.This cross-sectional study aims to evaluate dental students' experiences with emergency remote practices, related levels anxiety, sociodemographic factors affecting during the pandemic.This was conducted when social...
Mild parkinsonian signs (MPS) are frequent in the elderly population and associated with presence of risk markers for Parkinson's disease (PD). Both MPS non-motor may be present prodromal PD significantly impair quality life (QoL).To disentangle contribution motor impairment extra-motor manifestations to QoL subjects (n=63), manifest (n=69), disorders symptoms due non-neurodegenerative diseases (n=213) healthy controls (n=258).Subjects MPS, controls, (patients to, eg, arthrosis spondylosis),...
Abstract Different pathogenic variants in the DNA polymerase-gamma2 (POLG2) gene cause a rare, clinically heterogeneous mitochondrial disease. We detected novel POLG2 variant (c.1270 T > C, p.Ser424Pro) family with adult-onset cerebellar ataxia and progressive ophthalmoplegia. demonstrated altered integrity patients’ fibroblast cultures but no changes of were found when compared to controls. consider this novel, segregating as disease-causing family. Moreover, we systematically screened...
Genetically determined cerebellar ataxias (CA) are a heterogeneous group of disorders with progressive decline functions. The cerebellum influences internal forward models that play role in cognitive control, but whether these processes dysfunctional CA is unclear. Here, we examined sensory predictive coding and response adaptation healthy controls (HC) using behavioral tests concomitant EEG recordings. N = 23 patients 29 age- sex-matched HC were studied. Sensory prediction was tested an...
This informal observational study on the tic prevalence in 40 young singers was carried out during a public concert of Bach's Christmas Oratorio. Tics were highly prevalent (present 35% = 14 boys). Given possibility an overrepresentation perioral tics this group achieving vocal artists, one might speculate that there is relationship between ability motor system to produce surplus movements (tics) and high performance (exquisite singing). Despite unusual design, with all its limitations, our...
Additional neurologic signs such as mild cerebellar ataxia and uncommon EEG MRI findings in patients with generalized chorea a positive family history should prompt clinicians to also consider Huntington disease–like syndromes.
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Abstract Dopa-responsive dystonia (DRD) is caused by an impaired dopamine biosynthesis due to a GTP-cyclohydrolase-1 (GCH1) deficiency, resulting in combination of and parkinsonism. However, the effect GCH1 mutations levodopa treatment on motor control beyond simple movements, such as timing, action preparation feedback processing, have not been investigated so far. In active time estimation task with trial-by-trial feedback, participants indicated target interval (1200 ms) response. We...