Rik Vandenberghe
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View article: Polygenic risk for Alzheimer’s disease shapes microglial inflammatory and antigen-presentation programs in vivo
Polygenic risk for Alzheimer’s disease shapes microglial inflammatory and antigen-presentation programs in vivo Open
How polygenic risk translates into cellular dysfunction remains largely unknown in Alzheimer’s disease and related disorders. Here, we selected 31 donors broadly spanning the Caucasian-based polygenic risk distribution for AD and show that…
View article: MRI-based classifier to identify close-to-onset cases in <i>C9orf72</i> genetic frontotemporal dementia
MRI-based classifier to identify close-to-onset cases in <i>C9orf72</i> genetic frontotemporal dementia Open
Predicting symptom onset in genetic frontotemporal dementia (FTD) is crucial for advancing targeted interventions and clinical trial design. Brain changes begin years before clinical symptoms emerge, making neuroimaging a strong candidate …
View article: Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study
Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study Open
View article: The association of diabetes with Alzheimer's disease biomarkers and vascular burden across European aging and memory clinic cohorts
The association of diabetes with Alzheimer's disease biomarkers and vascular burden across European aging and memory clinic cohorts Open
INTRODUCTION It remains unclear whether diabetes mellitus (DM) is associated with Alzheimer's disease (AD) pathology and associated vascular burden. METHODS We included cognitively normal (CN), mild cognitive impairment (MCI), and dementia…
View article: Cross‐country variance in facial emotion recognition in presymptomatic and symptomatic behavioral variant frontotemporal dementia: Insights from the GENFI and ReDLat consortia
Cross‐country variance in facial emotion recognition in presymptomatic and symptomatic behavioral variant frontotemporal dementia: Insights from the GENFI and ReDLat consortia Open
INTRODUCTION We investigated international differences in facial emotion recognition (FER) across stages of frontotemporal dementia (FTD). Previous studies may have missed early decline by combining data and masking variations in FER acros…
View article: Cerebrospinal fluid proteomic associations of <i>APOE</i> genotypes reveal distinct protective and risk mechanisms for Alzheimer's disease
Cerebrospinal fluid proteomic associations of <i>APOE</i> genotypes reveal distinct protective and risk mechanisms for Alzheimer's disease Open
BACKGROUND The apolipoprotein E ( APOE ) gene includes the strongest protective (ε2) and risk (ε4) variants for sporadic Alzheimer's disease (AD), but underlying mechanisms remain unclear. We studied APOE genotype effects on the cerebrospi…
View article: Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia
Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia Open
CVR impairment in genetic FTD has a predilection for the middle frontal and posterior cortex, and its preservation may yield a cognitive benefit for at-risk individuals. Although findings do not provide causality and warrant replication, t…
View article: Harmonizing genotype array data to understand genetic risk for brain amyloid burden in the AMYPAD PNHS Consortium
Harmonizing genotype array data to understand genetic risk for brain amyloid burden in the AMYPAD PNHS Consortium Open
INTRODUCTION We sought to harmonize genotype data from the predementia AMYPAD (Amyloid Imaging to Prevent Alzheimer's Disease) Consortium, compute polygenic risk scores (PRS), and determine their association with global amyloid deposition.…
View article: Executive Function Deficits in Genetic Frontotemporal Dementia
Executive Function Deficits in Genetic Frontotemporal Dementia Open
Some individuals with C9orf72 mutations show difficulties with executive function from very early on in the disease and this continues to deteriorate with disease severity. By contrast, similar difficulties occur only in the later s…
View article: Tau PET positivity in individuals with and without cognitive impairment varies with age, amyloid-β status, APOE genotype and sex
Tau PET positivity in individuals with and without cognitive impairment varies with age, amyloid-β status, APOE genotype and sex Open
View article: Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders
Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders Open
Background Genetic frontotemporal dementia (FTD) along with Alzheimer's disease (AD), is one of the most prevalent early-onset dementias. The differential diagnosis of FTD from primary psychiatric disorder (PPD) has been challenging due to…
View article: Alzheimer's disease and its co‐pathologies: Implications for hippocampal degeneration, cognitive decline, and the role of <i>APOE</i> ε4
Alzheimer's disease and its co‐pathologies: Implications for hippocampal degeneration, cognitive decline, and the role of <i>APOE</i> ε4 Open
INTRODUCTION In neurodegenerative dementias, the co‐occurrence and interaction of amyloid β peptide (Aβ), tau pathology, and other pathological lesions confound their individual contributions to neurodegeneration and their modulation by ri…
View article: Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia
Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia Open
INTRODUCTION Microtubule‐associated protein tau ( MAPT ) mutations cause frontotemporal dementia (FTD), characterised by behavioural, language, and motor impairments due to brain connectivity disruptions. We investigated structural and fun…
View article: A systems immunology analysis of Alzheimer’s disease reveals an age- and environmental exposure-independent disturbance in B cell maturation
A systems immunology analysis of Alzheimer’s disease reveals an age- and environmental exposure-independent disturbance in B cell maturation Open
Alzheimer’s disease is a severe neurodegenerative disorder, with multifactorial mechanisms of disease development and progression. Evidence from genetic association studies, animal models, and clinical investigation suggests a neuroimmunol…
View article: Anatomical progression of genetic frontotemporal lobar degeneration across the lifespan
Anatomical progression of genetic frontotemporal lobar degeneration across the lifespan Open
The recent development of brain charts for the human lifespan offers an ideal modelling framework for pathologies such as genetic frontotemporal lobar degeneration (FTLD) which likely involve both neurodevelopmental and neurodegenerative p…
View article: GWAS meta-analysis of CSF Alzheimer's disease biomarkers 18,948 individuals reveal novel loci and genes regulating lipid metabolism, brain volume and autophagy
GWAS meta-analysis of CSF Alzheimer's disease biomarkers 18,948 individuals reveal novel loci and genes regulating lipid metabolism, brain volume and autophagy Open
View article: Wearable sleep recording augmented by artificial intelligence for Alzheimer’s disease screening
Wearable sleep recording augmented by artificial intelligence for Alzheimer’s disease screening Open
The recent emergence of wearable devices will enable large scale remote brain monitoring. This study investigated whether multimodal wearable sleep recordings could help screening for Alzheimer's disease (AD). Measurements were acquired si…
View article: Disease-modifying effects of <i>TMEM106B</i> in genetic frontotemporal dementia: a longitudinal GENFI study
Disease-modifying effects of <i>TMEM106B</i> in genetic frontotemporal dementia: a longitudinal GENFI study Open
Common variants within TMEM106B are associated with risk for frontotemporal lobar degeneration with TDP-43 pathology (FTLD-TDP). The G allele of the top single nucleotide polymorphism, rs1990622, confers protection against FTLD-TDP, includ…
View article: Alzheimer’s disease and its co-pathologies: implications for hippocampal degeneration, cognitive decline, and the role of <i>APOE</i> ε4
Alzheimer’s disease and its co-pathologies: implications for hippocampal degeneration, cognitive decline, and the role of <i>APOE</i> ε4 Open
INTRODUCTION In neurodegenerative dementias, the co-occurrence and interaction of Aβ, tau, and other pathological lesions confound their individual contributions to neurodegeneration and their modulation by risk factors. METHODS We analyze…
View article: Amyloid PET predicts atrophy in older adults without dementia: Results from the AMYPAD Prognostic & Natural History Study
Amyloid PET predicts atrophy in older adults without dementia: Results from the AMYPAD Prognostic & Natural History Study Open
The impact of amyloid-β (Aβ) accumulation on regional brain atrophy in preclinical Alzheimer’s disease (AD), and its interaction with risk factors like sex and APOE -ε4 carriership, remains unclear. In this study, we examined these associa…
View article: Alzheimer's disease neuropathology and its estimation with fluid and imaging biomarkers
Alzheimer's disease neuropathology and its estimation with fluid and imaging biomarkers Open
Alzheimer’s disease (AD) is neuropathologically characterized by the extracellular deposition of the amyloid-β peptide (Aβ) and the intraneuronal accumulation of abnormal phosphorylated tau (τ)-protein (p-τ). Most frequently, these hallmar…
View article: Synaptic protein CSF levels relate to memory scores in individuals without dementia
Synaptic protein CSF levels relate to memory scores in individuals without dementia Open
View article: Cellular signatures of functional resilience in presymptomatic frontotemporal dementia
Cellular signatures of functional resilience in presymptomatic frontotemporal dementia Open
Frontotemporal dementia (FTD) shows autosomal dominant transmission in up to a third of families, enabling the study of presymptomatic and prodromal phases. Despite self-reported well-being and normal daily cognitive functioning, brain str…
View article: Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes
Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes Open
We used an untargeted mass spectrometric approach, tandem mass tag proteomics, for the identification of proteomic signatures in genetic frontotemporal dementia (FTD). A total of 238 cerebrospinal fluid (CSF) samples from the Genetic FTD I…
View article: Natural language processing‐based classification of early Alzheimer's disease from connected speech
Natural language processing‐based classification of early Alzheimer's disease from connected speech Open
INTRODUCTION The automated analysis of connected speech using natural language processing (NLP) emerges as a possible biomarker for Alzheimer's disease (AD). However, it remains unclear which types of connected speech are most sensitive an…
View article: Valence as principal dimension of the semantic space in primary progressive aphasia semantic variant
Valence as principal dimension of the semantic space in primary progressive aphasia semantic variant Open
Previous studies of the semantic variant of primary progressive aphasia have determined which word features render single words more vulnerable. Here, we applied a graph-based approach and modelled the pathological changes at the network l…
View article: Rare Abca7 Mutations in Alzheimer's Disease and Cerebral Amyloid Angiopathy Pathology
Rare Abca7 Mutations in Alzheimer's Disease and Cerebral Amyloid Angiopathy Pathology Open
View article: Serum biomarkers as prognostic markers for Alzheimer's disease in a clinical setting
Serum biomarkers as prognostic markers for Alzheimer's disease in a clinical setting Open
INTRODUCTION Blood‐based glial fibrillary acidic protein (GFAP), neurofilament light chain (NfL), and phosphorylated tau (pTau) have shown promising prognostic potential in Alzheimer's disease (AD), but their applicability in clinical sett…
View article: EEG-based graph network analysis in relation to regional tau in asymptomatic Alzheimer’s disease
EEG-based graph network analysis in relation to regional tau in asymptomatic Alzheimer’s disease Open
Tau aggregation in early affected regions in the asymptomatic stage of Alzheimer’s disease marks a transitional phase between stable asymptomatic amyloid positivity and the clinically manifest stage. How this early region tau aggregation c…
View article: Cerebrospinal fluid proteomic profiling of cognitively unimpaired individuals with suspected non-Alzheimer's disease pathophysiology
Cerebrospinal fluid proteomic profiling of cognitively unimpaired individuals with suspected non-Alzheimer's disease pathophysiology Open
Suspected non-Alzheimer's disease pathophysiology (SNAP) is a biomarker-based concept describing individuals with abnormal tau and/or neurodegeneration markers but normal amyloid levels. SNAP is common in individuals with normal cognition …