A5088281813- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Chronic Disease Management Strategies
- Amyotrophic Lateral Sclerosis Research
- Down syndrome and intellectual disability research
- Frailty in Older Adults
- Advanced Neuroimaging Techniques and Applications
- Parkinson's Disease Mechanisms and Treatments
- Functional Brain Connectivity Studies
- Prion Diseases and Protein Misfolding
- Medical Imaging Techniques and Applications
- Genetic Neurodegenerative Diseases
- Psychiatric care and mental health services
- Intensive Care Unit Cognitive Disorders
- Genetics and Neurodevelopmental Disorders
- Cholinesterase and Neurodegenerative Diseases
- Health and Medical Studies
- Neuroinflammation and Neurodegeneration Mechanisms
- Autism Spectrum Disorder Research
- Older Adults Driving Studies
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Neurological Disease Mechanisms and Treatments
- Spinal Dysraphism and Malformations
- S100 Proteins and Annexins
Ludwig-Maximilians-Universität München
2021-2025
German Center for Neurodegenerative Diseases
2022-2025
LMU Klinikum
2021-2025
Washington University in St. Louis
2023-2024
Munich Cluster for Systems Neurology
2023-2024
Universidad de Granada
2024
Minimally invasive biomarkers are urgently needed to detect molecular pathology in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we show that plasma extracellular vesicles (EVs) contain quantifiable amounts of TDP-43 full-length tau, which allow the quantification 3-repeat (3R) 4-repeat (4R) tau isoforms. Plasma EV levels 3R/4R ratios were determined a cohort 704 patients, including 37 genetically 31 neuropathologically proven cases. Diagnostic groups comprised...
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...
Recent advances in biomarker research have improved the diagnosis and monitoring of Alzheimer's disease (AD), but vivo biomarker-based workflows to assess 4R-tauopathy (4RT) patients are currently missing. We suggest a novel algorithm characterize AD 4RTs.
Abstract INTRODUCTION The Cambridge Cognitive Examination modified for use in people with Down syndrome (CAMCOG‐DS) is a sensitive cognitive test Alzheimer's disease (AD)–related decline DS, but needs updates sensitivity, cultural adaptability, and additional memory/executive function items. This study aimed to develop validate the CAMCOG‐DS‐II. METHODS In this multi‐language, multi‐site study, psychometric properties of CAMCOG‐DS‐II were evaluated against previously validated measures 223...
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.
Adults with Down Syndrome (DS) have a substantially increased risk for Alzheimer's disease (AD) due to the triplicated amyloid-precursor-protein gene on chromosome 21, resulting in amyloid and tau accumulation. However, PET assessments are not sufficiently implemented DS-AD research or clinical work-up, second-generation tracers such as [18F]PI-2620 been thoroughly characterized adults DS. We aim at illustrating feasibility potential diagnostic value of imaging diagnosis DS-AD. Five DS (40%...
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...
Abstract Purpose Clinical staging in individuals with Alzheimer’s disease (AD) typically relies on neuropsychological testing. Recognizing the imperative for an objective measure of clinical AD staging, regional perfusion early-phase β-amyloid-PET may aid as a cost-efficient index assessment neurodegeneration severity patients disease. Methods Regional deficits well testing (max. 90 days delay) were evaluated 82 biologically defined according to ATN classification. In reference Braak system...
Abstract INTRODUCTION Adults with Down syndrome (DS) show increased risk for Alzheimer's disease (AD) due to the triplication of chromosome 21 encoding amyloid precursor protein gene. Further, this possibly contributes dysregulation immune system, furthering AD pathophysiology. METHODS Using Olink Explore 3072, we measured ∼3000 proteins in plasma from 73 adults DS and 15 euploid, healthy controls (HC). Analyses differentially expressed (DEP) were carried out, pathway network enrichment...
This exploratory case-control study investigates the synaptic marker beta-synuclein in serum and plasma pTau181 adults with Down syndrome (DS) (sDS, n = 14) without (aDS, 47) clinical symptoms of Alzheimer disease (AD) as well euploid controls (n 23). Beta-synuclein was higher aDS more pronounced sDS (p < 0.0001), whereas only 0.0001). Both markers showed good discriminatory power (area under curve > 0.90) to distinguish symptomatic from asymptomatic AD. The data indicate that alterations...
Objectives: In recent years several 18 F-labeled amyloid PET (Aβ-PET) tracers have been developed and obtained clinical approval. There is evidence that Aβ-PET perfusion can provide surrogate information about neuronal injury in neurodegenerative diseases when compared to conventional blood flow glucose metabolism assessment. However, this paradigm has not yet tested disorders with cortical subcortical affection. Therefore, we investigated the performance of early acquisition F-flutemetamol...
Behavioral and neuropsychiatric symptoms are frequent in patients with genetic frontotemporal dementia (FTD). We aimed to describe behavioral phenotypes FTD, quantify their temporal association, investigate regional association brain atrophy.
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Abstract INTRODUCTION Studies suggest distinct differences in the development, presentation, progression, and response to treatment of Alzheimer's disease (AD) between females males. We investigated sex cognition, neuroimaging, fluid biomarkers dominantly inherited AD (DIAD). METHODS Three hundred twenty‐five mutation carriers (55% female) one eighty‐six non‐carriers (58% Dominantly Inherited Alzheimer Network Observational Study were analyzed. Linear mixed models Spearman's correlation...
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.
Due to a triplication of the amyloid precursor protein (APP) gene on chromosome 21, most people with Down's Syndrome (DS) are at high risk developing an Alzheimer type dementia associated (DS-AD). The diagnostic process DS-AD is challenging due variability symptoms ranging from memory deficits social withdrawal or aggression, as well broad spectrum differential diagnoses. Currently, ICD-10, DSM-V and novel A(amyloid)/T(tau)/N (neurodegeneration) system available for classifying dementia,...
Im klinischen Alltag sind Demenzkrankheiten von anderen Störungen der Kognition, des Sozialverhaltens und emotionalen Kontrolle abzugrenzen. Durch eine dezidierte Stufendiagnostik müssen reversible Ursachen mit zügigem Handlungsbedarf langsam progredienten Prozessen unterschieden werden.
Abstract Background People with Down's syndrome (DS) are at high risk of developing Alzheimer dementia (DS‐AD) due to a triplication the amyloid precursor protein gene. While several tools diagnose and screen for DS‐AD, such as screening questionnaire individuals intellectual disabilities (DSQIID), available in English, validated German versions instruments scarce. Methods A version DSQIID (DSQIID‐G) was completed by caregivers before attending our specialist outpatient department DS‐AD. All...
Abstract Purpose Early after [ 18 F]PI-2620 PET tracer administration, perfusion imaging has potential for regional assessment of neuronal injury in neurodegenerative diseases. This is while standard late-phase tau-PET able to discriminate 4-repeat tauopathies (4RTs) from disease controls and healthy controls. Here, we investigated whether early-phase an additive value biomarker based evaluation 4RTs. Methods Seventy-eight patients with 4RTs (71±7y, 39 female), 79 other diseases (67±12y, 35...
Regression in young adults with Down syndrome can present itself an acute loss of acquired skills and change behavior. The aim our case series was to describe the heterogeneous clinical presentation this as well accompanying diagnostic therapeutic challenges consequences.All three patients were assessed CAMDEX-DS (Cambridge Examination for Mental Disorders Older People Syndrome Others Intellectual Disabilities) criteria published by DSMIG-USA (Down-Syndrome Medical Interest Group USA).After...
Im klinischen Alltag sind Demenzkrankheiten von anderen Störungen der Kognition, des Sozialverhaltens und emotionalen Kontrolle abzugrenzen. Durch eine dezidierte Stufendiagnostik müssen reversible Ursachen mit zügigem Handlungsbedarf langsam progredienten Prozessen unterschieden werden.