Publications by authors named "L Montoliu-Gaya"
Introduction: Heterozygous mutations in the progranulin gene (GRN) leading to decreased progranulin levels are one of the most frequent causes of inherited frontotemporal dementia (FTD). We evaluated progranulin levels in dried blood spots from capillary finger-stick collection (DBS).
Methods: Paired venous Ethylenediaminetetraacetic acid (EDTA) plasma and DBS samples were collected from each participant with or without pathogenic GRN mutations.
Article Synopsis
- * A new plasma test measuring p-tau212 levels shows high accuracy in detecting AD-related changes and was tested in 245 plasma and 114 cerebrospinal fluid samples using advanced technology.
- * Results indicate a strong correlation between plasma and CSF p-tau212 levels, with elevated levels in individuals with prodromal and dementia stages of DS, demonstrating high diagnostic accuracy in distinguishing between asymptomatic and symptomatic cases.
Article Synopsis
- Blood-based biomarkers are being studied to improve the detection and monitoring of Alzheimer's Disease in individuals with Down Syndrome, as current clinical diagnostics are challenging.
- Key biomarkers like phosphorylated tau (p-tau217, p-tau181) have shown strong connections to disease progression in Down Syndrome, suggesting they could be valuable in clinical settings.
- The research emphasizes the need for more understanding of biomarker variability, particularly regarding sex differences and the appropriate contexts for their clinical application in Alzheimer's diagnosis and treatment.
Background: Phosphorylated tau (p-tau) is a specific blood biomarker for Alzheimer's disease (AD) pathology. Multiple p-tau biomarkers on several analytical platforms are poised for clinical use. The Alzheimer's Association Global Biomarker Standardisation Consortium plasma phospho-tau Round Robin study engaged assay developers in a blinded case-control study on plasma p-tau, aiming to learn which assays provide the largest fold-changes in AD compared to non-AD, have the strongest relationship between plasma and cerebrospinal fluid (CSF), and show the most consistent relationships between methods (commutability) in measuring both patient samples and candidate reference materials (CRM).
View Article and Find Full Text PDFAbnormal accumulation of misfolded and hyperphosphorylated tau protein in brain is the defining feature of several neurodegenerative diseases called tauopathies, including Alzheimer's disease (AD). In AD, this pathological change is reflected by highly specific cerebrospinal fluid (CSF) tau biomarkers, including both phosphorylated and non-phosphorylated variants. Interestingly, despite tau pathology being at the core of all tauopathies, CSF tau biomarkers remain unchanged in certain tauopathies, e.
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