A5014694759- Alzheimer's disease research and treatments
- Amyotrophic Lateral Sclerosis Research
- Dementia and Cognitive Impairment Research
- Down syndrome and intellectual disability research
- Chronic Disease Management Strategies
- Parkinson's Disease Mechanisms and Treatments
- Frailty in Older Adults
- Mitochondrial Function and Pathology
- Neuroinflammation and Neurodegeneration Mechanisms
- Metabolomics and Mass Spectrometry Studies
- Neurogenetic and Muscular Disorders Research
- Bioinformatics and Genomic Networks
- Neurological diseases and metabolism
- Advanced Proteomics Techniques and Applications
- Peripheral Neuropathies and Disorders
- Health, Environment, Cognitive Aging
- Circular RNAs in diseases
- Gallbladder and Bile Duct Disorders
- Nerve injury and regeneration
- Extracellular vesicles in disease
- Pancreatitis Pathology and Treatment
- Cerebrospinal fluid and hydrocephalus
- Prion Diseases and Protein Misfolding
- MicroRNA in disease regulation
- Neuroscience and Neuropharmacology Research
Biomedical Research Networking Center on Neurodegenerative Diseases
2016-2025
Hospital de Sant Pau
2015-2025
Universitat Autònoma de Barcelona
2015-2025
Instituto de Salud Carlos III
2025
Centro de Investigación Biomédica en Red
2018-2025
Centro Medico Nacional Siglo XXI
2025
Biomedical Research Institute
2018-2020
Centre for Biomedical Network Research on Rare Diseases
2020
Universidad San Francisco de Quito
2019
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2017
BackgroundAlzheimer's disease and its complications are the leading cause of death in adults with Down syndrome. Studies have assessed Alzheimer's individuals syndrome, but natural history biomarker changes syndrome has not been established. We characterised order timing biomarkers a population syndrome.MethodsWe did dual-centre cross-sectional study recruited through population-based health plan Barcelona (Spain) services for people intellectual disabilities Cambridge (UK). Cognitive...
A biomarker of synapse loss, an early event in Alzheimer's disease (AD) pathophysiology that precedes neuronal death and symptom onset, would be a much-needed prognostic biomarker. With direct access to the brain interstitial fluid, cerebrospinal fluid (CSF) is potential source synapse-derived proteins. In this study, we aimed identify validate novel CSF biomarkers loss AD. Discovery: Combining shotgun proteomics with exhaustive search literature public databases, identified 251 synaptic...
To determine the cutoffs that optimized agreement between 18 F-Florbetapir positron emission tomography (PET) and Aβ1-42, Aβ1-40, tTau, pTau their ratios measured in cerebrospinal fluid (CSF) on LUMIPULSE G600II instrument, we quantified levels of these four biomarkers 94 CSF samples from participants Sant Pau Initiative Neurodegeneration (SPIN cohort) using Lumipulse G System with available imaging.Participants had mild cognitive impairment (n = 35), AD dementia 12), other dementias or...
Abstract Mutations in the glucocerebrosidase gene are associated with Parkinson's disease and Lewy body dementia. However, whether these alterations have any effect on clinical course of is not clear. The coding region was fully sequenced 225 patients, 17 pathologically confirmed dementia 186 controls from Spain. Twenty‐two patients (9.8%) 2 (11.8%) carried mutations gene, compared only 1 control (0.5%); P = .016 .021 for dementia, respectively. N370S L444P represented 50% alterations. Two...
Dementia with Lewy bodies is characterized by the accumulation of and neurites in CNS, both which are composed mainly aggregated α-synuclein phosphorylated at Ser129. Although believed to exert toxic effects synapse dementia other α-synucleinopathies, direct evidence for precise synaptic localization has been difficult achieve due lack adequate optical microscopic resolution study human synapses. In present we applied array tomography, a microscopy technique that combines ultrathin...
Cerebrospinal fluid (CSF) biomarkers are useful in the diagnosis and prediction of progression several neurodegenerative diseases. Among them, CSF neurofilament light (NfL) protein has particular interest, as its levels reflect neuroaxonal degeneration, a common feature various In present study, we analyzed NfL 535 participants SPIN (Sant Pau Initiative on Neurodegeneration) cohort including cognitively normal participants, patients with Alzheimer disease (AD), Down syndrome (DS),...
<h3>Objective</h3> To identify transcriptomic changes, neuropathologic correlates, and cellular subpopulations in the motor cortex of sporadic amyotrophic lateral sclerosis (ALS). <h3>Methods</h3> We performed massive RNA sequencing patients with ALS (n = 11) healthy controls (HCs; n 8) analyzed gene expression alterations, differential isoform usage, coexpression networks. Furthermore, we used cell type deconvolution algorithms human single-nucleus data as reference to perturbations...
To study baseline serum neurofilament light chain (sNfL) levels as a prognostic biomarker in Guillain-Barré syndrome (GBS).
Astrocytes play an essential role in neuroinflammation and are involved the pathogenesis of neurodenegerative diseases. Studies glial fibrillary acidic protein (GFAP), astrocytic damage marker, may help advance our understanding different neurodegenerative In this study, we investigated diagnostic performance plasma GFAP (pGFAP), neurofilament light chain (pNfL) their combination for frontotemporal dementia (FTD) Alzheimer's disease (AD) clinical utility predicting progression.pGFAP pNfL...
<h3>Importance</h3> Alzheimer disease (AD) is the leading cause of death in individuals with Down syndrome (DS). Previous studies have suggested that the<i>APOE</i>ɛ4 allele plays a role risk and age at onset dementia DS; however, data on vivo biomarkers remain scarce. <h3>Objective</h3> To investigate association clinical multimodal AD adults DS. <h3>Design, Setting, Participants</h3> This dual-center cohort study recruited DS Barcelona, Spain, Cambridge, UK, between June 1, 2009, February...
Abstract Introduction The SPIN (Sant Pau Initiative on Neurodegeneration) cohort is a multimodal biomarker platform designed for neurodegenerative disease research following an integrative approach. Methods Participants of the provide informed consent to donate blood and cerebrospinal fluid samples, receive detailed neurological neuropsychological evaluations, undergo structural 3T brain MRI scan. A subset also undergoes other functional or imaging studies (video‐polysomnogram, 18...
<h3>Objective</h3> To investigate the clinical utility of 3 CSF biomarkers along spectrum amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). <h3>Methods</h3> We analyzed biomarkers: soluble β-fragment amyloid precursor protein (sAPPβ), YKL-40, neurofilament light (NfL) in FTD (n = 86), ALS 38), a group age-matched cognitively normal controls 49). Participants with profile Alzheimer disease were excluded. compared cross-sectional biomarker levels between groups, studied...
Lewy body disorders (LBD) are common neurodegenerative diseases characterized by the presence of aggregated α-synuclein in bodies and neurites central peripheral nervous systems. The brains patients with LBD often display other comorbid pathologies, i.e. insoluble tau, β-amyloid aggregates, TAR DNA-binding protein 43 (TDP-43) deposits, argyrophilic grain disease (AGD). incidence physiological relevance these concurrent pathological findings remain controversial. We performed a...
Soluble amyloid-β (Aβ) is considered to be a critical component in the pathogenesis of Alzheimer's disease (AD). Evidence suggests that these non-fibrillar Aβ assemblies are implicated synaptic dysfunction, neurodegeneration and cell death. However, characterization species comes mainly from studies cellular or animal models, there little data intact human samples due lack adequate optical microscopic resolution study small structures. Here, achieve super-resolution all three dimensions, we...
Objectives All categories included in the AT(N) classification can now be measured plasma. However, their agreement with cerebrospinal fluid (CSF) markers is not fully established. A blood signature to generate would facilitate early diagnosis of patients Alzheimer’s disease (AD) through an easy and minimally invasive approach. Methods We Aβ, pTau181 neurofilament light (NfL) 150 plasma samples Sant Pau Initiative on Neurodegeneration cohort including mild cognitive impairment, AD dementia,...
Background: Progranulin is implicated in frontotemporal dementia (FTD), but its role other neurodegenerative disorders unknown. Objective: To investigate the levels of progranulin (PGRN) cerebrospinal fluid (CSF) different dementias and their correlation with plasma cognitively normal subjects. Methods: We measured PGRN CSF 229 patients amnestic mild cognitive impairment, Alzheimer’s disease dementia, sporadic FTD, Lewy bodies, corticobasal syndrome, or progressive supranuclear palsy. also...
The role of innate immunity in dementia with Lewy bodies (DLB) has been little studied. We investigated the levels cerebrospinal fluid (CSF) glial proteins YKL-40, soluble TREM2 (sTREM2) and progranulin DLB their relationship Alzheimer's disease (AD) biomarkers. included patients (n = 37), prodromal (prodDLB, n 23), AD 50), (prodAD, 53), cognitively normal subjects (CN, 44). measured sTREM2, progranulin, Aβ
Autosomal-dominant Alzheimer's disease (ADAD) is a genetic disorder caused by mutations in Amyloid Precursor Protein (APP) or Presenilin (PSEN) genes. Studying the mechanisms underlying these can provide insight into pathways that lead to AD pathology. The majority of biochemical studies on APP to-date have focused comparing between at different codons. It has been assumed amino acid position major determinant protein dysfunction and clinical phenotype. However, differential effect same...
Neuroinflammation plays a major role in amyotrophic lateral sclerosis (ALS), and cumulative evidence suggests that systemic inflammation the infiltration of immune cells into brain contribute to this process. However, no study has investigated peripheral blood ALS pathophysiology using single-cell RNA sequencing (scRNAseq). We aimed characterize from identify ALS-related alterations at resolution. For purpose, mononuclear (PBMC) were isolated 14 patients cognitively unimpaired healthy...
Abstract BACKGROUND In Down syndrome (DS) and Alzheimer's disease (AD), nerve growth factor precursor protein (proNGF) accumulates in the brain. However, its non‐invasive detection using neuron‐derived extracellular vesicles (NDEVs) from plasma remains unexplored. METHODS We included 139 adults with DS (45 asymptomatic [aDS], 94 symptomatic for AD [sDS]) 37 healthy controls. NDEVs were isolated plasma. ProNGF tetraspanin (CD81) quantified by enzyme‐linked immunosorbent assay. assessed...