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Sökning: L773:1552 5279 OR L773:1552 5260 > Barkhof F

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  • Bos, I., et al. (författare)
  • Cerebrospinal fluid biomarkers of neurodegeneration, synaptic integrity, and astroglial activation across the clinical Alzheimer's disease spectrum
  • 2019
  • Ingår i: Alzheimers & Dementia. - : Wiley. - 1552-5260 .- 1552-5279. ; 15:5, s. 644-654
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: We investigated relations between amyloid-beta (A beta) status, apolipoprotein E (APOE) e4, and cognition, with cerebrospinal fluid markers of neurogranin (Ng), neurofilament light (NFL), YKL-40, and total tau (T-tau). Methods: We included 770 individuals with normal cognition, mild cognitive impairment, and Alzheimer's disease (AD)-type dementia from the EMIF-AD Multimodal Biomarker Discovery study. We tested the association of Ng, NFL, YKL-40, and T-tau with A beta status (Ab beta- vs. A beta+), clinical diagnosis APOE epsilon 4 carriership, baseline cognition, and change in cognition. Results: Ng and T-tau distinguished between A beta+ from A beta- individuals in each clinical group, whereas NFL and YKL-40 were associated with A beta+ in nondemented individuals only. APOE epsilon 4 carriership did not influence NFL, Ng, and YKL-40 in A beta+ individuals. NFL was the best predictor of cognitive decline in A beta+ individuals across the cognitive spectrum. Discussion: Axonal degeneration, synaptic dysfunction, astroglial activation, and altered tau metabolism are involved already in preclinical AD. NFL may be a useful prognostic marker. (C) 2019 the Alzheimer's Association. Published by Elsevier Inc. All rights reserved.
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  • Delvenne, A., et al. (författare)
  • Cerebrospinal fluid proteomic profiling of individuals with mild cognitive impairment and suspected non-Alzheimer's disease pathophysiology
  • 2023
  • Ingår i: Alzheimers & Dementia. - : Wiley. - 1552-5260 .- 1552-5279. ; 19:3, s. 807-820
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Suspected non-Alzheimer's disease pathophysiology (SNAP) is a biomarker concept that encompasses individuals with neuronal injury but without amyloidosis. We aim to investigate the pathophysiology of SNAP, defined as abnormal tau without amyloidosis, in individuals with mild cognitive impairment (MCI) by cerebrospinal fluid (CSF) proteomics. Methods Individuals were classified based on CSF amyloid beta (A beta)1-42 (A) and phosphorylated tau (T), as cognitively normal A-T- (CN), MCI A-T+ (MCI-SNAP), and MCI A+T+ (MCI-AD). Proteomics analyses, Gene Ontology (GO), brain cell expression, and gene expression analyses in brain regions of interest were performed. Results A total of 96 proteins were decreased in MCI-SNAP compared to CN and MCI-AD. These proteins were enriched for extracellular matrix (ECM), hemostasis, immune system, protein processing/degradation, lipids, and synapse. Fifty-one percent were enriched for expression in the choroid plexus. Conclusion The pathophysiology of MCI-SNAP (A-T+) is distinct from that of MCI-AD. Our findings highlight the need for a different treatment in MCI-SNAP compared to MCI-AD.
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  • Hong, S. J., et al. (författare)
  • TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels
  • 2021
  • Ingår i: Alzheimers & Dementia. - : Wiley. - 1552-5260 .- 1552-5279. ; 17:10, s. 1628-1640
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction Neurofilament light (NfL), chitinase-3-like protein 1 (YKL-40), and neurogranin (Ng) are biomarkers for Alzheimer's disease (AD) to monitor axonal damage, astroglial activation, and synaptic degeneration, respectively. Methods We performed genome-wide association studies (GWAS) using DNA and cerebrospinal fluid (CSF) samples from the EMIF-AD Multimodal Biomarker Discovery study for discovery, and the Alzheimer's Disease Neuroimaging Initiative study for validation analyses. GWAS were performed for all three CSF biomarkers using linear regression models adjusting for relevant covariates. Results We identify novel genome-wide significant associations between DNA variants in TMEM106B and CSF levels of NfL, and between CPOX and YKL-40. We confirm previous work suggesting that YKL-40 levels are associated with DNA variants in CHI3L1. Discussion Our study provides important new insights into the genetic architecture underlying interindividual variation in three AD-related CSF biomarkers. In particular, our data shed light on the sequence of events regarding the initiation and progression of neuropathological processes relevant in AD.
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  • Neumann, A., et al. (författare)
  • Exome-wide rare variant analysis of Alzheimer's disease biomarkers: The EMIF-AD multimodal biomarker discovery study
  • 2021
  • Ingår i: Alzheimer's & dementia : the journal of the Alzheimer's Association. - : Wiley. - 1552-5279. ; 17
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Alzheimer's disease (AD) biomarkers show promise in aiding diagnosis and prediction by representing several neurodegenerative processes, such as synaptic dysfunction, neuronal injury, inflammation or neuronal loss. Biomarkers could also aid in the discovery of AD-related genes and inform which biological mechanisms underlie a genetic risk effect. We performed an exome-wide rare variant analysis of six biomarkers measured in cerebrospinal fluid (β-amyloid, total tau/phosphorylated tau, NFL, YKL-40, and Neurogranin) and hippocampal volume as measured by MRI. The aim was to discover genes associated with these indicators and test whether they mediate genetic effects on AD. METHOD: We performed the exome-wide analysis in two studies: the EMIF-AD study and ADNI. Whole exome sequencing and biomarker information data was available for 505 (CSF biomarkers) and 508 (hippocampal volume) participants with AD, mild cognitive impairment and controls. We applied a principal component (PC) analysis to derive combinations of CSF biomarkers, which represent statistically independent biological processes. We then tested whether rare (MAF < 1%) variants in 13,799 protein-coding genes associate with the PCs or hippocampal volume using a Meta-SKAT test. We also tested whether the PCs are intermediary to gene effects on dementia symptoms with a SMUT test. RESULT: One PC loaded on NFL and YKL40, indicators of neuronal injury and inflammation. Three genes were associated with this PC: IFFO1, NLRC3, and DTNB. Mediation tests suggested, that these genes also affect dementia symptoms by increasing susceptibility to neuronal injury and inflammation. We also observed an association between a PC loading on Neurogranin and GABBR2 and CASZ1, but no mediation effects. Furthermore, BUB1B was associated with left hippocampal volume. CONCLUSION: The results suggest that rare variants in IFFO1, DTNB and NLRC3 impact neuronal injury and inflammation, by potentially altering cytoskeleton structure, impairing repair abilities and disinhibition of immune pathways, which then could lead to dementia symptoms. Furthermore, the findings support a role of BUB1B in hippocampal atrophy. Curiously, this gene has previously been linked to longevity and memory in animal models. This study suggests a similar influence in humans and proposes a pathway through hippocampal neurodegeneration. © 2021 the Alzheimer's Association.
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