Carmen Lage
A5065646667- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Parkinson's Disease Mechanisms and Treatments
- Context-Aware Activity Recognition Systems
- Health, Environment, Cognitive Aging
- Neuroinflammation and Neurodegeneration Mechanisms
- Neurobiology of Language and Bilingualism
- Glaucoma and retinal disorders
- Neurological diseases and metabolism
- Retinal Imaging and Analysis
- Artificial Intelligence in Healthcare and Education
- Genomics and Rare Diseases
- Psychosomatic Disorders and Their Treatments
- Nutrition, Genetics, and Disease
- Amyotrophic Lateral Sclerosis Research
- Genetic Neurodegenerative Diseases
- Retinal Diseases and Treatments
- Inflammation biomarkers and pathways
- Neurological Disease Mechanisms and Treatments
- Action Observation and Synchronization
- Traumatic Brain Injury and Neurovascular Disturbances
- Anesthesia and Neurotoxicity Research
- Bipolar Disorder and Treatment
Biomedical Research Networking Center on Neurodegenerative Diseases
2018-2025
Instituto de Salud Carlos III
2019-2025
Instituto de Investigación Marqués de Valdecilla
2015-2025
Universidad de Cantabria
2015-2025
Marqués de Valdecilla University Hospital
2015-2025
Centro de Investigación Biomédica en Red
2017-2024
Global Brain Health Institute
2022-2024
University of California, San Francisco
2023-2024
Molecular Biology Consortium
2023
Trinity College
2023
Genetic discoveries of Alzheimer's disease are the drivers our understanding, and together with polygenetic risk stratification can contribute towards planning feasible efficient preventive curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets by-proxy results (discovery n = 409,435 validation size 58,190). Here, we add six variants associated (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 two exonic in SHARPIN gene). Assessment...
Background: MicroRNAs have been postulated as potential biomarkers for Alzheimer’s disease (AD). Exosomes are nanovesicles which transport microRNAs, proteins, and other cargos. It has hypothesized that the exosome traffic might be increased in neurodegenerative disorders. Objective: i) To ass ess cerebrospinal fluid (CSF) microRNA profile a group of AD patients control subjects to validate microRNAs previously reported by authors. ii) compare levels whole CSF exosome-enriched fraction...
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). role of immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates longevity. We studied effect on seven longevity, using 53,627 patients, 3,516 long-lived individuals 149,290 study-matched controls. replicated association AD we found an dementia Lewy bodies (DLB) frontotemporal (FTD). did not find...
The arrival of new disease-modifying treatments for Alzheimer's disease (AD) requires the identification subjects at risk in a simple, inexpensive, and non-invasive way. With tools allowing an adequate screening, it would be possible to optimize use these treatments. Plasma markers AD are very promising, but is necessary prove that alterations their levels related gold standard such as cerebrospinal fluid or PET imaging. this research, we want evaluate performance plasma Aβ40, Aβ42, p-tau181...
Highlights•Generation of a foundational genomic resource in multiple system atrophy•GWAS identifies novel risk loci at GAB1, lnc-LRRC49-3, TENM2, and RABGEF1•Functional genomics implicates USP38-DT, KCTD7, lnc-KCTD7-2 within these loci•Gene-burden analysis nominal enrichment rare missense mutations KCTD7SummaryMultiple atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, dysautonomia. The genetic architecture MSA poorly understood,...
Plasma biomarkers for Alzheimer’s disease (AD) are a promising tool that may help in early diagnosis. However, their levels be influenced by physiological parameters and comorbidities should considered before they can used at the population level. For this purpose, we assessed influences of different on AD plasma markers 208 cognitively unimpaired subjects. We analyzed both cerebrospinal fluid Aβ40, Aβ42, p-tau181 using fully automated Lumipulse platform. The relationships between variables...
Limbic encephalitis associated with antibodies to components of the voltage-gated potassium channel complex (VGKCC-Ab-LE) often leads hippocampal atrophy and persistent memory impairment. Its long-term impact on regions beyond hippocampus, relationship between brain damage cognitive outcome, are poorly understood. We investigated nature structural functional abnormalities following VGKCC-Ab-LE its role in residual impairment.A cross-sectional group study was conducted. Twenty-four patients...
Oculomotor behavior can provide insight into the integrity of widespread cortical networks, which may contribute to differential diagnosis between Alzheimer's disease and frontotemporal dementia. Three groups patients with disease, behavioral variant dementia (bvFTD) semantic primary progressive aphasia (svPPA) a sample cognitively unimpaired elders underwent an eye-tracking evaluation. All participants in discovery sample, including controls, had biomarker-supported diagnosis. correlates...
Abstract The APOE locus is strongly associated with risk for developing Alzheimer’s disease and dementia Lewy bodies. In particular, the role of ε4 allele as a putative driver α-synuclein pathology topic intense debate. Here, we performed comprehensive evaluation in 2466 bodies cases versus 2928 neurologically healthy, aged controls. Using an APOE-stratified genome-wide association study approach, found that GBA patients without (P = 5.65 × 10−8, OR 3.21, 95% CI 2.11–4.88), but not 0.034,...
We characterized the role of structural variants, a largely unexplored type genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases 4,132 controls. discovered, replicated, validated deletion
Evidence suggests that the basal forebrain (BF) cholinergic system degenerates early in course of Alzheimer's disease (AD), likely due to vulnerability BF neurons tau pathology. However, it remains unclear whether presence tauopathy is only requirement for initiating degeneration asymptomatic subjects at risk AD (AR-AD), and how structural deficits evolve from normal aging preclinical prodromal AD. Here, we provide human vivo magnetic resonance imaging evidence supporting abnormal...
The objective of this study was to investigate and compare optic nerve retinal layers in eyes patients with mild cognitive impairment (MCI) Alzheimer's disease (AD) paired control using optical coherence tomography.Sixty-three 34 subjects, 12 AD 51 MCI, positive 11C-labeled Pittsburgh Compound-B positron emission tomography (11C-PiB PET/CT), the same number sex- age-paired underwent scanning analyzing fiber layer (RNFL), ganglion cell (GCL), Bruch's membrane opening-minimum rim width...
An ancestral inversion of 900 kb on chromosome 17q21, which includes the microtubule-associated protein tau (MAPT) gene, defines two haplotype clades in Caucasians (H1 and H2). The H1 has been linked inconsistently with AD. In a previous study, we showed that an SNP tagging this (rs1800547) was associated AD risk large population from Dementia Genetics Spanish Consortium (DEGESCO) including 4435 cases 6147 controls. association mainly driven by individuals were non-carriers APOE ε4 allele....
Abstract Background To evaluate a wide range of optical coherence tomography (OCT) parameters for possible application as screening tool cognitively healthy individuals at risk Alzheimer’s disease (AD), assessing the potential relationship with established cerebrospinal fluid (CSF) core AD biomarkers and magnetic resonance imaging (MRI). Methods We studied 99 participants from Valdecilla Study Memory Brain Aging. This is prospective cohort multimodal biomarker discovery validation that...
Plasma biomarkers for Alzheimer's disease (AD) are a promising tool accessible and accurate biological diagnostics. However, data in clinical practice needed to better understand their diagnostic prognostic ability memory unit patients. We analyzed plasma phosphorylated tau at threonine 217 (p-tau217) neuroflament light chain (NfL) levels AD cerebrospinal fluid (CSF) group of 493 subjects using the Lumipulse G600II platform. The sample includes 340 patients from our (142 dementia, 186 mild...
ABSTRACT BACKGROUND Disentangling the genetic constellation underlying Alzheimer’s disease (AD) is important. Doing so allows us to identify biological pathways AD, point towards novel drug targets and use variants for individualised risk predictions in modifying or prevention trials. In present work we report on largest genome-wide association study (GWAS) AD date show combined utility of proven loci precision medicine using polygenic scores (PRS). METHODS Three sets summary statistics were...
Background: Plasma biomarkers of Alzheimer’s disease (AD) constitute a non-invasive tool for diagnosing and classifying subjects. They change even in preclinical stages, but it is necessary to understand their properties so they can be helpful clinical context. Objective: With this work we want study the evolution p-tau231 plasma levels stages AD its relationship with both cognitive imaging parameters. Methods: We evaluated phosphorylated (p)-tau231 146 cognitively unimpaired subjects...
There is increasing evidence of the relationship between sleep and neurodegeneration, but this knowledge not incorporated into clinical practice yet. We aimed to test whether a basic parameter, as total estimated by actigraphy for 1 week, was valid predictor CSF Alzheimer’s Disease core biomarkers (amyloid-β-42 –40, phosphorylated-tau-181, total-tau) in elderly individuals, considering possible confounders effect modifiers, particularly APOE ε 4 allele. One hundred twenty-seven cognitively...
Background: PLCG2 plays an important role in immune system signaling, and is expressed several cell types including microglia the brain. In 2017, genetic variant rs72824905 (p.Pro522Arg) gene (Phospholipase C Gamma 2) was associated with a reduced risk of Alzheimer's disease (AD). Here we investigated whether had similar protective effect on six other brain diseases. We further tested if increases likelihood longevity, since neurodegenerative diseases might associate general survival....