Raquel Sánchez‐Valle
- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Amyotrophic Lateral Sclerosis Research
- Prion Diseases and Protein Misfolding
- Parkinson's Disease Mechanisms and Treatments
- Functional Brain Connectivity Studies
- Neuroinflammation and Neurodegeneration Mechanisms
- Neurological diseases and metabolism
- Genomics and Rare Diseases
- Advanced Neuroimaging Techniques and Applications
- Neurological Disease Mechanisms and Treatments
- Bioinformatics and Genomic Networks
- Neurobiology of Language and Bilingualism
- Genetic Neurodegenerative Diseases
- Cholinesterase and Neurodegenerative Diseases
- Health, Environment, Cognitive Aging
- Trace Elements in Health
- Genetic Associations and Epidemiology
- Genetics and Neurodevelopmental Disorders
- Health Systems, Economic Evaluations, Quality of Life
- S100 Proteins and Annexins
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Neurological disorders and treatments
- Neurogenetic and Muscular Disorders Research
- Biotin and Related Studies
Hospital Clínic de Barcelona
2016-2025
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2016-2025
Universitat de Barcelona
2006-2025
Departament de Salut
2024-2025
Fundació Clínic per a la Recerca Biomèdica
2019-2025
Biomedical Research Networking Center on Neurodegenerative Diseases
2017-2025
University College London
2020-2024
Munich Cluster for Systems Neurology
2024
Ludwig-Maximilians-Universität München
2022-2024
Universidad de Granada
2024
Loss of TREM2 function impairs phagocytosis and correlates with decreased soluble in biological fluids patients neurodegenerative disorders.
Objective To estimate the risk for developing a defined neurodegenerative syndrome in large cohort of idiopathic REM sleep behavior disorder (IRBD) patients with long follow-up. Methods Using Kaplan-Meier method, we estimated disease-free survival rate from syndromes all consecutive IRBD diagnosed and followed-up our tertiary referal center between November 1991 July 2013. Results The comprises 174 median age at diagnosis 69 years follow-up four years. time was 33.1% five years, 75.7% ten...
TREM2 is an innate immune receptor expressed on the surface of microglia. Loss-of-function mutations are associated with increased risk Alzheimer's disease (AD). a type-1 protein ectodomain that proteolytically cleaved and released into extracellular space as soluble variant (sTREM2), which can be measured in cerebrospinal fluid (CSF). In this cross-sectional multicenter study, we investigated whether CSF levels sTREM2 changed during clinical course AD, cognitively normal individuals...
<h3>Objective:</h3> To report 14 patients with immune-mediated relapsing symptoms post–herpes simplex encephalitis (HSE) and to compare the clinical immunologic features of teenage adult group those young children. <h3>Methods:</h3> Prospective observational study diagnosed between June 2013 February 2015. Immunologic techniques have been reported previously. <h3>Results:</h3> Among (8 patients, median age 40 years, range 13–69; 5 male), 3 had an acute symptom presentation suggesting a viral...
Abstract Objective To evaluate cerebrospinal fluid ( CSF ) and serum neurofilament light chain (NfL) levels in genetic frontotemporal dementia FTD as a potential biomarker the presymptomatic stage during conversion into symptomatic stage. Additionally, to correlate NfL clinical neuroimaging parameters. Methods In this multicenter case–control study, we investigated 174 subjects (48 controls, 40 carriers 86 patients with microtubule‐associated protein tau MAPT ), progranulin GRN chromosome 9...
YKL-40 (also known as Chitinase 3-like 1) is a glycoprotein produced by inflammatory, cancer and stem cells. Its physiological role not completely understood but elevated in the brain cerebrospinal fluid (CSF) several neurological neurodegenerative diseases associated with inflammatory processes. Yet precise characterization of dementia cases missing. In present study, we comparatively analysed levels CSF samples from dementias different aetiologies characterized presence cortical pathology...
Objective To determine the usefulness of dopamine transporter (DAT) imaging to identify idiopathic rapid eye movement sleep behavior disorder (IRBD) patients at risk for short‐term development clinically defined synucleinopathy. Methods Eighty‐seven with polysomnography‐confirmed IRBD underwent 123 I‐FP‐CIT DAT‐SPECT. Results were compared 20 matched controls without RBD who In patients, FP‐CIT uptake was considered abnormal when values two standard deviations below controls’ mean uptake....
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...
There are few validated fluid biomarkers in frontotemporal dementia (FTD). Glial fibrillary acidic protein (GFAP) is a measure of astrogliosis, known pathological process FTD, but has yet to be explored as potential biomarker.Plasma GFAP and neurofilament light chain (NfL) concentration were measured 469 individuals enrolled the Genetic FTD Initiative: 114 C9orf72 expansion carriers (74 presymptomatic, 40 symptomatic), 119 GRN mutation (88 31 53 MAPT (34 19 symptomatic) 183 non-carrier...
Abstract Alzheimer’s disease (AD) pathology develops many years before the onset of cognitive symptoms. Two pathological processes—aggregation amyloid-β (Aβ) peptide into plaques and microtubule protein tau neurofibrillary tangles (NFTs)—are hallmarks disease. However, other brain processes are thought to be key mediators Aβ plaque NFT pathology. How these additional pathologies evolve over course is currently unknown. Here we show that proteomic measurements in autosomal dominant AD...
Patients with coronavirus disease 2019 (COVID-19) frequently develop acute encephalopathy and encephalitis, but whether these complications are the result from viral-induced cytokine storm syndrome or anti-neural autoimmunity is still unclear. In this study, we aimed to evaluate diagnostic prognostic role of CSF serum biomarkers inflammation (a wide array cytokines, antibodies against neural antigens, IgG oligoclonal bands), neuroaxonal damage (14-3-3 protein neurofilament light [NfL]) in...
Importance An estimated 40% of dementia is potentially preventable by modifying 12 risk factors throughout the life course. However, robust evidence for most these lacking. Effective interventions should target in causal pathway to dementia. Objective To comprehensively disentangle aspects modifiable Alzheimer disease (AD) inspire new drug targeting and improved prevention. Design, Setting, Participants This genetic association study was conducted using 2-sample univariable multivariable...
Background: Preliminary studies suggested that anti-Tr antibodies identify patients with paraneoplastic cerebellar degeneration (PCD) and Hodgkin disease (HD). Objective: To extend the clinical–immunologic analysis to 28 antibodies. Methods: Anti-Tr were detected by immunohistochemistry. A competitive inhibition assay was used ascertain if of different sera common epitopes. immunoglobulin G (IgG) subclass distribution determined immunohistochemistry using monoclonal against human IgG...
Objective To identify a novel biochemical marker that precedes clinical symptoms in Alzheimer disease (AD). Methods Using quantitative polymerase chain reaction techniques, we measured circulating cell‐free mitochondrial DNA (mtDNA) cerebrospinal fluid (CSF) from study participants, selected cohort of 282 subjects, who were classified according to their concentrations amyloid β 1–42 , total tau, and phosphorylated tau by the presence or absence dementia, into asymptomatic subjects at risk...
To date, cerebrospinal fluid analysis, particularly protein 14-3-3 testing, presents an important approach in the identification of Creutzfeldt–Jakob disease cases. However, one special point criticism testing is specificity differential diagnosis rapid dementia. The constant observation increased referrals national surveillance centres over last years raises concern declining due to higher number tests performed various neurological conditions. Within framework a European Community...