A5013160015- Parkinson's Disease Mechanisms and Treatments
- Alzheimer's disease research and treatments
- Chronic Disease Management Strategies
- Down syndrome and intellectual disability research
- Frailty in Older Adults
- Amyotrophic Lateral Sclerosis Research
- Neurological disorders and treatments
- Palliative Care and End-of-Life Issues
- Nausea and vomiting management
- Child Nutrition and Feeding Issues
- Restless Legs Syndrome Research
- Health and Medical Studies
- Trace Elements in Health
- Family and Patient Care in Intensive Care Units
- Childhood Cancer Survivors' Quality of Life
- Intensive Care Unit Cognitive Disorders
- Advanced Fluorescence Microscopy Techniques
- Sleep and Wakefulness Research
- Cerebral Venous Sinus Thrombosis
- Neonatal Respiratory Health Research
- Medical Imaging and Pathology Studies
- Protease and Inhibitor Mechanisms
- Neuroscience and Neuropharmacology Research
- Healthcare Decision-Making and Restraints
- Dysphagia Assessment and Management
Ludwig-Maximilians-Universität München
2011-2025
German Center for Neurodegenerative Diseases
2022-2025
LMU Klinikum
2012-2024
Munich Cluster for Systems Neurology
2023
Paracelsus Medical University
2014
München Klinik
2014
Klinik und Poliklinik für Neurologie
2011
The diagnosis of symptomatic Alzheimer's disease is a clinical challenge in adults with Down syndrome. Blood biomarkers would be particular importance this population. astrocytic Glial Fibrillary Acidic Protein (GFAP) marker astrogliosis associated amyloid pathology, but its longitudinal changes, association other and cognitive performance have not been studied individuals syndrome.We performed three-centre study syndrome, autosomal dominant euploid enrolled Hospital Sant Pau, Barcelona...
Amyotrophic lateral sclerosis (ALS) is predominantly characterized by a progressive loss of motor function. While autonomic dysfunction has been described in ALS, little known about the prevalence lower urinary tract symptoms (LUTS) and intestinal dysfunction. We investigated disease severity, LUTS 43 patients with ALS attending our outpatient department applying functional rating scale, International Consultation on Incontinence Modular Questionnaire, Urinary Distress Inventory Cleveland...
Progressive supranuclear palsy (PSP) is a neurodegenerative movement disorder characterized by deposition of fibrillar aggregates 4R tau-protein in neurons and glial cells the brain. These deposits are key neuropathological finding, allowing diagnosis "definite PSP," which usually established post mortem. To date criteria for clinical PSP vivo do not include biomarkers tau pathology. For intervention trials, it increasingly important to (i) establish an early (ii) develop that correlate with...
Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only few cases described worldwide.We identified nine children severe diffuse interstitial lung disease mutations. Clinical course, diagnostic findings and treatment were evaluated correlated the genotype. Functional impairment of intracellular JAK/pStat5 signaling pathway was assessed using flow-cytometry peripheral mononuclear cells (PBMC) granulocytes.We six individuals homozygous...
Fibrillar amyloid-like deposits and co-deposits of tau α-synuclein are found in several common neurodegenerative diseases. Recent evidence indicates that small oligomers the most relevant toxic aggregate species. While fibril formation is well-characterized, factors influencing oligomerization molecular interactions not well understood.We used a novel approach applying confocal single-particle fluorescence to investigate influence phosphorylation metal ions on oligomer its coaggregation with...
Niemann-Pick type C (NPC) disease is a rare autosomal-recessively inherited lysosomal storage disorder caused by mutations in NPC1 (95%) or NPC2. Given the highly variable phenotype, diagnosis challenging and particularly late-onset forms with predominantly neuropsychiatric presentations are likely underdiagnosed. Pathophysiologically, genetic alterations compromising endosomal/lysosomal system linked age-related neurodegenerative disorders. We sought to examine possible association of...
Six α-synuclein (aSyn) point mutations are currently known to be associated with familial parkinsonism: A30P, E46K, H50Q, G51D, A53E, and A53T. We performed a comprehensive in vitro analysis study the impact of all aSyn on lipid binding aggregation behavior. Markedly reduced moderately attenuated only very slightly for other mutants were observed. A30P was particularly prone form metal ion induced oligomers, whereas A53T exhibited weak tendencies oligomers. In turn, fibril formation occurred...
Background The CAMDEX-DS is an instrument to diagnose Alzheimer's disease (AD) in Down syndrome consisting of informant interview and a cognitive test battery (CAMCOG-DS). Measurement properties the German were investigated.
Compared to the general population, individuals with Down syndrome carry a much higher genetic risk of developing early onset Alzheimer's dementia. This leads unique challenges and need for targeted patient journey.In qualitative interview study medical professionals, organisations formal informal care persons, we assessed barriers within process this group as well current approaches overcome these problems. The is one module multi-method project founded by Innovation Fund German Joint...
Background: Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are characterized by rapid deterioration a fatal outcome. Objectives: Admission triggers, treatment efficacy, care patterns. Methods: Retrospective analysis of patients with PSP/CBD admitted to an inpatient specialized palliative service. Results: In 38 patients, there were 63 admissions for swallowing difficulties, falls, pain, impaired communication, cognitive/mood disturbances, respiratory symptoms,...
Background: F-18-fluordeoxyglucose positron emission tomography (FDG-PET) is widely used for discriminative diagnosis of tau-positive atypical parkinsonian syndromes (T+APS). This approach now stands to be augmented with more specific tau tracers. Therefore, we retrospectively analyzed a large clinical routine dataset FDG-PET images evaluation the strengths and limitations stand-alone FDG-PET. Methods: A total 117 patients (age 68.4 ± 11.1 y) underwent an exam. Patients were followed...
Abstract Objective Thinning of the peripapillary retinal nerve fiber layer (p‐RNFL), as measured by optical coherence tomography (OCT), was recently introduced a promising marker for cerebral neuronal loss in people with epilepsy (PwE). However, its clinical implication remains to be elucidated. We thus aimed (1) systematically characterize extent neuroaxonal broad spectrum unselected PwE and (2) evaluate main determinants. Methods In this prospective study, spectral‐domain OCT evaluation...
In several neurodegenerative diseases, hyperphosphorylation at position Ser129 is found in fibrillar deposits of alpha-synuclein (asyn), implying a pathophysiological role asyn phosphorylation neurodegeneration. However, recent animal models applying mimics demonstrated protective effect phosphorylation. Since metal-ion induced oligomers were identified as potential neurotoxic aggregate species with membrane pore-forming abilities, the current study was undertaken to determine effects on...
People with Down syndrome have a genetically increased risk of developing early onset Alzheimer's dementia. An interview study healthcare providers, patient representatives and employees in residential work facilities was conducted to identify deficits the process approaches overcoming them.