A5101612223- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Trace Elements in Health
- Amyotrophic Lateral Sclerosis Research
- Alzheimer's disease research and treatments
- Health disparities and outcomes
- Geriatric Care and Nursing Homes
- Peripheral Neuropathies and Disorders
- Chronic Disease Management Strategies
- Parkinson's Disease Mechanisms and Treatments
- Evolution and Genetic Dynamics
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Aging, Health, and Disability
- Bacteriophages and microbial interactions
- Multiple Sclerosis Research Studies
- Systemic Lupus Erythematosus Research
- Infectious Encephalopathies and Encephalitis
- Brain Metastases and Treatment
- Public Health and Social Inequalities
- Hereditary Neurological Disorders
- Migration, Health and Trauma
- Microbial metabolism and enzyme function
- Stroke Rehabilitation and Recovery
- Bacterial Infections and Vaccines
- Pressure Ulcer Prevention and Management
Instituto de Salud Carlos III
2014-2024
Biomedical Research Networking Center on Neurodegenerative Diseases
2012-2022
Centro Nacional de Epidemiología
1992-2022
Centro Nacional de Microbiologia
2019
Centre National de la Recherche Scientifique
2019
Massachusetts General Hospital
2019
Harvard University
2019
Sorbonne Université
2019
Inserm
2019
Broad Institute
2019
Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for therapeutic strategy disease.
To determine whether preventive trials in genetic prion disease could be designed to follow presymptomatic mutation carriers onset of disease.We assembled age at or death data from 1,094 individuals with high penetrance mutations the protein gene (PRNP) order generate survival and hazard curves test for modifiers onset. We used formulae simulations estimate statistical power clinical trials.Genetic varies over several decades most common neither sex, parent's onset, nor PRNP codon 129...
The objective was to characterize a rapidly progressive subtype of Alzheimer's disease (rpAD). Multicenter (France, Germany, Japan, Spain) retrospective analyses neuropathologically confirmed rpAD cases initially classified as prion due their clinical phenotype were performed. Genetic properties, cerebrospinal fluid biomarkers, neuropathology, and features examined. Eighty-nine patients included (median survival 10 months). APOE PRNP codon 129 genotype distribution paralleled healthy control...
<h3>Objectives</h3> Evidence of surgical transmission sporadic Creutzfeldt–Jakob disease (sCJD) remains debatable in part due to misclassification exposure levels. In a registry-based case–control study, the authors applied risk-based classification interventions determine association between history surgery and sCJD. <h3>Design</h3> Case–control allowing for detailed analysis according time since exposure. <h3>Setting</h3> National populations Denmark Sweden. <h3>Participants</h3> From...
Alzheimer's disease (AD) and Creutzfeldt-Jakob (CJD) represent two distinct clinical entities belonging to a wider group, generically named as conformational disorders that share common pathophysiologic mechanisms. It is well-established the APOE ε4 allele homozygosity at polymorphic codon 129 in PRNP gene are major genetic risk factors for AD human prion diseases, respectively. However, roles of AD, CJD controversial. In this work, we investigated first time, genotypes simultaneously 474...
To assess the association between baseline urinary incontinence and long-term, all-cause mortality.Urinary is a common disorder among older institutionalised adults, with important consequences for morbidity quality of life. Moreover, while it consistent mortality marker, extent to which this might be causal remains controversial.A cohort study.We conducted follow-up study on 675 nursing-home residents in city Madrid (Spain), from their 1998-1999 interviews September 2013. Study subjects or...
Abstract Background The 14-3-3 test appears to be a valuable aid for the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) in selected populations. However, its usefulness routine practice has been challenged. In this study, influence context on performance sCJD is investigated through analysis large prospective series. Methods Six hundred seventy-two Spanish patients with clinically suspected were analyzed. Clinical classification at sample reception according World Health...
Background The purpose of this study was to identify incidence and survival patterns in conformational neurodegenerative disorders (CNDDs). Methods We identified 2563 reports on the eight conditions representing sporadic, acquired genetic, protein-associated, i.e., conformational, NDD groups age-related macular degeneration (AMD). selected 245 papers for full-text examination application quality criteria. Additionally, data-collection completed with detailed information from British,...
Abstract Background The objective of this study was to describe the diagnostic panorama human transmissible spongiform encephalopathies across 11 countries. Methods From data collected for surveillance purposes, we annual proportions deaths due different in eleven EUROCJD-consortium countries over period 1993–2002, as well variations use tests. Using logistic models quantified international differences and changes time. Results In general, pre-mortem investigations increased with...
Capture-recapture methods (CRMs) are well established in epidemiologic surveillance and considered useful for the task of correcting case-finding limitations multiple sclerosis (MS) prevalence surveys. To date, however, CRMs have been exclusively applied to crude figures. This study therefore sought explore an age-specific application this method urban Portuguese population 229,342.We used a CRM correct MS obtained from two data sources, i.e. general practitioners three primary-care...
Studies have shown a slight excess risk in Guillain-Barré syndrome (GBS) incidence associated with A(H1N1)pdm09 vaccination campaign and seasonal trivalent influenza vaccine immunisations 2009-2010. We aimed to assess the of GBS as potential adverse effect vaccination.A neurologist-led network, active at neurology departments ten general hospitals serving an adult population 4.68 million, conducted surveillance Spain 2009-2011. The established 1996, carried out retrospective prospective...
Objectives To assess the association of disability with suicide mortality, separately for women and men by age group. Methods Information was obtained from a representative national sample 161,809 community-dwelling adults (≥18 years). Participants contributed to follow-up time baseline interview (2008) until suicide, death other causes, or 2017. We calculated, sex, standardized mortality differences (SSMD), comparing persons without disabilities sociodemographic distribution population....
Retrospective demographic information and hospital record data were collected for 337 patients resident in Spain who had validated Guillain-Barré syndrome (GBS) diagnoses clinical onset during the period 1985–1997 been admitted to 11 centres, covering a population of 3.9 million. The European age-adjusted GBS incidence per 100,000 among aged 20 over was 0.85, with breakdown 1.14 men 0.58 women. Incidence increased age time, occasional rises that mimicked outbreaks occurred at irregular 2-...
Perturbations of calcium homeostasis have been associated with several neurodegenerative disorders. A common polymorphism (rs2986017) in the CALHM1 gene, coding for a regulator homeostasis, is genetic risk factor development Alzheimer disease (AD). Although some authors failed to confirm these results, meta-analysis has shown that this modulates age at onset. Furthermore, recent association study explored variability gene and two adjacent paralog genes (CALHM3 CALHM2) an Asian population....
Introduction Sporadic Creutzfeldt-Jakob disease (sCJD) might be transmitted by surgery. The purpose of this study was to investigate potential susceptibility sCJD from surgery at juvenile age and in early adulthood. Methods From Danish Swedish national registries we identified 167 definite probable cases with onset 1987 through 2003, 835 age-, sex- residence-matched controls along their surgical histories. Main, anatomically or etiologically classified procedures followed a ≥20-year lag were...
Background and objectives Nursing or care home characteristics may have a long-term impact on the residents' mortality risks that has not been studied previously. The study's main objective was to assess association between facility ownership long-term, all-cause mortality. Research design methods We conducted follow-up study cohort of 611 nursing-home residents in city Madrid, Spain, from their 1998–1999 baseline interviews up September 2013. Residents lived three types facilities: public,...
The β site APP cleaving enzyme 1 (BACE1) is the rate-limiting β-secretase in amyloidogenic processing of and Aβ formation, therefore it has a prominent role Alzheimer's disease (AD) pathology. Recent evidence suggests that prion protein (PrP) interacts directly with BACE1 regulating its activity. Moreover, PrP been proposed as cellular receptor involved impairment synaptic plasticity toxicity caused by oligomers. Provided common pathophysiologic mechanisms are shared Creutzfeldt-Jakob (CJD)...
Epidemiological studies on the potential role of surgery in Creutzfeldt-Jakob Disease transmission have disclosed associations with history specific surgical interventions or reported negative results.Within context a case-control study designed to address risk sporadic Nordic European countries (EUROSURGYCJD Project), strategy was adopted categorise procedures terms acquisition. We took into account elements biological plausibility, either clinically experimentally demonstrated, such as...
The complete molecular characterization of human genetic prion diseases from different backgrounds is important for clinical diagnosis and epidemiological classification. the PRNP gene should always include description pathogenic mutation, as well status at each allele polymorphic codon 129 (M129V), a well-established susceptibility marker phenotypic variability factor types diseases. Indeed, phenotypical expression two most common mutations in associated with diseases, D178N E200K, clearly...