- Neuroinflammation and Neurodegeneration Mechanisms
- Alzheimer's disease research and treatments
- COVID-19 and healthcare impacts
- Inflammation biomarkers and pathways
- Genomics and Rare Diseases
- Global Health Care Issues
- Dementia and Cognitive Impairment Research
- COVID-19 and Mental Health
- Neurological Disease Mechanisms and Treatments
- Leprosy Research and Treatment
- Cholinesterase and Neurodegenerative Diseases
- Health, Nursing, Elderly Care
- Long-Term Effects of COVID-19
- COVID-19 Pandemic Impacts
- Climate Change and Health Impacts
- Epilepsy research and treatment
- Health Systems, Economic Evaluations, Quality of Life
- Tryptophan and brain disorders
- COVID-19 epidemiological studies
- COVID-19 Clinical Research Studies
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Inflammasome and immune disorders
Vrije Universiteit Amsterdam
2022-2025
Amsterdam University Medical Centers
2021-2025
Amsterdam Neuroscience
2023-2025
Amsterdam UMC Location Vrije Universiteit Amsterdam
2025
Identifying genetic causes of dementia in patients visiting memory clinics is important for patient care and family planning. Traditional clinical selection criteria testing may miss carriers pathogenic variants dementia-related genes. This study aimed identify how many we are missing to optimize selecting counseling clinics. In this cohort study, retrospectively genetically tested during 2.5 years (2010-2012) the Alzheimer Center Amsterdam, a specialized clinic. Genetic tests consisted...
<ns3:p><ns3:bold>Background:</ns3:bold> This review aims to investigate the association of sex with risk multiple COVID-19 health outcomes, ranging from infection death.</ns3:p><ns3:p> <ns3:bold>Methods:</ns3:bold> Pubmed and Embase were searched through September 2020. We considered studies reporting coronavirus disease 2019 (COVID-19) outcomes. Qualitative quantitative data extracted using standardised electronic extraction forms assessment Newcastle Ottawa Scale for bias. Pooled trends in...
Autosomal dominant Alzheimer's disease (ADAD) offers a unique opportunity to study pathophysiological changes in relatively young population with few comorbidities. A comprehensive investigation of proteome occurring ADAD could provide valuable insights into AD-related biological mechanisms and uncover novel biomarkers therapeutic targets. Furthermore, might serve as model for sporadic AD, but in-depth comparisons are lacking. We aimed identify dysregulated CSF proteins determine the degree...
Rare variants of the triggering receptor expressed on myeloid cell 2 (TREM2) gene are strong risk factors for Alzheimer's disease (AD), and drugs targeting TREM2 protein being developed. However, it is unknown what effect AD phenotype. Here we studied a full range clinical biomarker measures in large cohort variant carriers (n = 123, 7.8%, i.e., R62H n 66, R47H 26, T96K 16, other 17) compared to confirmed non-carriers 1,459) with symptomatic from Amsterdam Dementia Cohort. Secondly, explored...
Abstract Background Autosomal dominant Alzheimer’s disease (ADAD) offers a unique opportunity to study pathophysiological changes in relatively young population with few comorbidities. A comprehensive investigation of proteome occurring ADAD could provide valuable insights into AD‐related biological mechanisms and uncover novel biomarkers therapeutic targets. Furthermore, might serve as model for sporadic AD, but in‐depth comparisons are lacking. We aimed identify dysregulated CSF proteins...
<title>Abstract</title> Rare variants of the triggering receptor expressed on myeloid cell 2 (<italic>TREM2</italic>) gene are major risk factors for Alzheimer’s disease (AD), and drugs targeting TREM2 protein being developed. However, it is unknown whether carriers a <italic>TREM2</italic> variant have clinically distinct AD phenotype. Here we studied full range clinical measures in large cohort (<italic>n</italic> = 123, 7.8%, i.e., R62H <italic>n</italic> 66, R47H 26, T96K 16, other 17)...
Importance: Identifying genetic causes for dementia in patients who visit a memory clinic is important and family members. However, current clinical selection criteria analysis may miss carriers of pathogenic variants (PGVs) dementia-related genes. Objective: Optimizing the patient-selection offering counselling visiting clinics. Design: Clinical cohort study at Alzheimer Center Amsterdam, analysing from January 2010 to June 2012, participated Amsterdam Dementia Cohort. A 54-gene panel was...
To assess mental wellbeing among persons affected by leprosy, this study aimed to validate the Warwick-Edinburgh Mental Wellbeing Scale (WEMWBS) and Patient Health Questionnaire (PHQ-9, depression tool) in Province 1 7, Nepal. Using purposive convenience sampling, cross-cultural equivalences were assessed through semi-structured interviews with leprosy (>18 years). Data transcribed, translated, analysed discussed experts before revising tools. Psychometric properties of scales using an...
ABSTRACT Rare variants of the triggering receptor expressed on myeloid cell 2 ( TREM2 ) gene are major risk factors for Alzheimer’s disease (AD), and drugs targeting protein being developed. However, it is unknown whether carriers a variant have clinically distinct AD phenotype. Here we studied full range clinical measures in large cohort n =123, 7.8%, i.e., R62H =66, R47H =26, T96K =16, other =17) compared to confirmed non-carriers =1,459) with biomarker symptomatic from Amsterdam Dementia...
Abstract Background Carriers of mutations in PSEN1, PSEN2 or APP develop early‐onset Alzheimer’s dementia around a certain age depending on the specific mutation. However, some individuals “escape their fate”, meaning they remain asymptomatic far beyond expected at onset (EAO). We call these “escapees”. A well‐known example is resilient PSEN1 carrier that led to identification protective APOEε3‐Christchurch mutation (Arboleda‐Velasquez et al., 2019). Here we present an extremely PSEN1‐P264L...
Abstract Background TREM2 plays a central role in immune response which, turn, is strongly related to Alzheimer’s disease (AD) pathology. We previously found an AD‐subtype with and without innate activation based on CSF proteomics. Possibly, genes associated pathways could explain differences between these two subtypes since R47H R62H mutations are decreased microglial activation. tested this hypothesis large single site cohort, compared them PRS including reported GWAS pathways. Method...
Abstract Background Identification of patients with familial dementia is important as this may explain disease in families, raises the possibility predictive testing for relatives and enables participation trials. Previously proposed clinical criteria to offer genetic based on diagnosis, age, history do not capture diversity presentation patients. We aimed develop data‐derived prospectively validated these by applying them a memory clinic. Method In 2,5‐year period (1‐1‐2010 until 30‐6‐2012)...
Abstract Background Rare TREM2 variants are major risk factors for Alzheimer’s disease (AD), but may also confer a higher other neurodegenerative diseases and lower probability cognitively healthy aging. We studied the burden associated with different types of dementia centenarians (CHCs). Method included participants 100‐Plus Study, Amsterdam Dementia Cohort, Longitudinal Aging Study various Dutch memory clinics. (R47H, R62H, Q33X, R62C, T96K) were genotyped high density array or imputed...