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Lumbar Puncture: Consensus Guidelines

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  1. Article

    Open Access

    Brain age as a biomarker for pathological versus healthy ageing – a REMEMBER study

    This study aimed to evaluate the potential clinical value of a new brain age prediction model as a single interpretable variable representing the condition of our brain. Among many clinical use cases, brain ag...

    Mandy M.J. Wittens, Stijn Denissen, Diana M. Sima in Alzheimer's Research & Therapy (2024)

  2. Article

    Open Access

    Towards validation in clinical routine: a comparative analysis of visual MTA ratings versus the automated ratio between inferior lateral ventricle and hippocampal volumes in Alzheimer’s disease diagnosis

    To assess the performance of the inferior lateral ventricle (ILV) to hippocampal (Hip) volume ratio on brain MRI, for Alzheimer’s disease (AD) diagnostics, comparing it to individual automated ILV and hippocam...

    Mandy M. J. Wittens, Gert-Jan Allemeersch, Diana M. Sima in Neuroradiology (2024)

  3. Article

    Open Access

    Subclinical epileptiform activity in the Alzheimer continuum: association with disease, cognition and detection method

    Epileptic seizures are an established comorbidity of Alzheimer’s disease (AD). Subclinical epileptiform activity (SEA) as detected by 24-h electroencephalography (EEG) or magneto-encephalography (MEG) has been...

    Amber Nous, Laura Seynaeve, Odile Feys, Vincent Wens in Alzheimer's Research & Therapy (2024)

  4. Article

    Open Access

    Mutated Toll-like receptor 9 increases Alzheimer’s disease risk by compromising innate immunity protection

    The development of Alzheimer’s disease (AD) involves central and peripheral immune deregulation. Gene identification and studies of AD genetic variants of peripheral immune components may aid understanding of ...

    Rita Cacace, Lujia Zhou, Elisabeth Hendrickx Van de Craen in Molecular Psychiatry (2023)

  5. Article

    Open Access

    CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response

    The Alzheimer’s disease (AD) risk gene ABCA7 has suggested functions in lipid metabolism and the immune system. Rare premature termination codon (PTC) mutations and an expansion of a variable number of tandem rep...

    Lena Duchateau, Fahri Küҫükali, Arne De Roeck in Alzheimer's Research & Therapy (2023)

  6. Article

    Open Access

    Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning

    Genome-wide association studies (GWAS) of Alzheimer’s disease (AD) have identified several risk loci, but many remain unknown. Cerebrospinal fluid (CSF) biomarkers may aid in gene discovery and we previously d...

    Alexander Neumann, Olena Ohlei, Fahri Küçükali, Isabelle J. Bos in Genome Medicine (2023)

  7. Article

    Open Access

    CSF proteome profiling reveals biomarkers to discriminate dementia with Lewy bodies from Alzheimer´s disease

    Diagnosis of dementia with Lewy bodies (DLB) is challenging and specific biofluid biomarkers are highly needed. We employed proximity extension-based assays to measure 665 proteins in the cerebrospinal fluid (...

    Marta del Campo, Lisa Vermunt, Carel F. W. Peeters, Anne Sieben in Nature Communications (2023)

  8. Article

    Open Access

    Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

    Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi in Nature Communications (2023)

  9. Article

    Open Access

    Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated b...

    Iris E. Jansen, Sven J. van der Lee, Duber Gomez-Fonseca in Acta Neuropathologica (2022)

  10. Article

    Open Access

    Lead-exposure associated miRNAs in humans and Alzheimer’s disease as potential biomarkers of the disease and disease processes

    Alzheimer’s disease (AD) is a neurodegenerative disease that eventually affects memory and behavior. The identification of biomarkers based on risk factors for AD provides insight into the disease since the ex...

    Qingfeng Wen, Marcha Verheijen, Mandy Melissa Jane Wittens in Scientific Reports (2022)

  11. Article

    Open Access

    Correction: Cerebrospinal fluid tau levels are associated with abnormal neuronal plasticity markers in Alzheimer’s disease

    Pieter Jelle Visser, Lianne M. Reus, Johan Gobom in Molecular Neurodegeneration (2022)

  12. Article

    Open Access

    Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer’s disease CSF profile of neuronal injury and inflammation

    Alzheimer’s disease (AD) biomarkers represent several neurodegenerative processes, such as synaptic dysfunction, neuronal inflammation and injury, as well as amyloid pathology. We performed an exome-wide rare ...

    Alexander Neumann, Fahri Küçükali, Isabelle Bos in Molecular Psychiatry (2022)

  13. Article

    Open Access

    New insights into the genetic etiology of Alzheimer’s disease and related dementias

    Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We per...

    Céline Bellenguez, Fahri Küçükali, Iris E. Jansen, Luca Kleineidam in Nature Genetics (2022)

  14. Article

    Open Access

    Cerebrospinal fluid tau levels are associated with abnormal neuronal plasticity markers in Alzheimer’s disease

    Increased total tau (t-tau) in cerebrospinal fluid (CSF) is a key characteristic of Alzheimer’s disease (AD) and is considered to result from neurodegeneration. T-tau levels, however, can be increased in very ...

    Pieter Jelle Visser, Lianne M. Reus, Johan Gobom in Molecular Neurodegeneration (2022)

  15. Article

    Open Access

    Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

    Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curat...

    Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi in Nature Communications (2021)

  16. Article

    Open Access

    Melatonin levels in the Alzheimer’s disease continuum: a systematic review

    The search for new Alzheimer’s disease (AD) cerebrospinal fluid (CSF) and blood biomarkers with potential pathophysiological and clinical relevance continues, as new biomarkers might lead to improved early and...

    Amber Nous, Sebastiaan Engelborghs, Ilse Smolders in Alzheimer's Research & Therapy (2021)

  17. Article

    Open Access

    Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

    Dementia with Lewy bodies (DLB) and Parkinson’s disease (PD) are clinically, pathologically and etiologically disorders embedded in the Lewy body disease (LBD) continuum, characterized by neuronal α-synuclein ...

    Stefanie Smolders, Stéphanie Philtjens in Acta Neuropathologica Communications (2021)

  18. Article

    Open Access

    Genome-wide association study of Alzheimer’s disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset

    Alzheimer’s disease (AD) is the most prevalent neurodegenerative disorder and the most common form of dementia in the elderly. Susceptibility to AD is considerably determined by genetic factors which hitherto ...

    Shengjun Hong, Dmitry Prokopenko, Valerija Dobricic in Translational Psychiatry (2020)

  19. Article

    Open Access

    Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

    Alzheimer’s disease (AD) mutations in amyloid precursor protein (APP) and presenilins (PSENs) could potentially lead to the production of longer amyloidogenic Aβ peptides. Amongst these, Aβ1–43 is more prone to a...

    Federica Perrone, Maria Bjerke, Elisabeth Hens in Alzheimer's Research & Therapy (2020)

  20. Article

    Open Access

    Mutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export

    Parkinson’s disease (PD) is a progressive neurodegenerative brain disease presenting with a variety of motor and non-motor symptoms, loss of midbrain dopaminergic neurons in the substantia nigra pars compacta ...

    Shaun Martin, Stefanie Smolders, Chris Van den Haute, Bavo Heeman in Acta Neuropathologica (2020)

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