Elisabet Mondragón
A5046033913- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Ginkgo biloba and Cashew Applications
- RNA regulation and disease
- Neurological disorders and treatments
- Alzheimer's disease research and treatments
- Folate and B Vitamins Research
- Lysosomal Storage Disorders Research
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Intracerebral and Subarachnoid Hemorrhage Research
- CRISPR and Genetic Engineering
- Metabolism and Genetic Disorders
- Hearing, Cochlea, Tinnitus, Genetics
- Genetic Neurodegenerative Diseases
- Leprosy Research and Treatment
- Vestibular and auditory disorders
- Infectious Diseases and Tuberculosis
- Vascular Malformations Diagnosis and Treatment
- Mitochondrial Function and Pathology
- Banana Cultivation and Research
- Neuroscience of respiration and sleep
- Muscle Physiology and Disorders
- Intracranial Aneurysms: Treatment and Complications
- Peripheral Neuropathies and Disorders
Biogipuzkoa Health Research Institute
2014-2024
Biomedical Research Networking Center on Neurodegenerative Diseases
2017-2024
Osakidetza
2021-2024
Centro de Investigación Biomédica en Red
2017-2024
Instituto de Salud Carlos III
2023
Donostia Unibertsitate Ospitalea
2019
Penetrance estimates of the leucine-rich repeat kinase 2 (LRRK2) p.G2019S mutation for PD vary widely (24%-100%). The penetrance in individuals Ashkenazi Jewish ancestry has been estimated as 25%, adjusted multiple covariates. It is unknown whether varies among different ethnic groups. objective this study was to estimate non-Ashkenazi and compare between Jews age 80.The kin-cohort method used 474 first-degree relatives 69 LRRK2 carrier probands at 8 sites from Michael J. Fox Cohort...
Abstract Background and purpose Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 ( FGF14 ) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B). We aimed study frequency phenotype of SCA27B a cohort patients with unsolved late‐onset cerebellar (LOCA). also assessed relative other genetically defined LOCAs. Methods recruited consecutive series 107 LOCA, whom 64 remained undiagnosed. screened these for expansion. next analysed forms LOCA...
The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture neurodegenerative diseases.
Abstract The lack of knowledge about the onset and progression Parkinson’s disease (PD) hampers its early diagnosis treatment. Metabolomics might shed light on PD imprint seeking a broader view biochemical remodeling induced by this in an pre-symptomatic stage unveiling potential biomarkers. To achieve goal, we took advantage great European Prospective Study Nutrition Cancer (EPIC) cohort to apply metabolomics searching for diagnostic markers. This consisted healthy volunteers that were...
ABSTRACT Background: Asymptomatic, nonmanifesting carriers of leucine‐rich repeat kinase 2 mutations are at increased risk developing PD. Clinical and neuroimaging features may be associated with gene carriage and/or demarcate individuals greater for phenoconversion to Objectives: To investigate clinical dopamine transporter single‐photon emission computed tomography imaging characteristics asymptomatic carriers. Methods: A total 342 carriers' 259 noncarriers' relatives G2019S 2/PD patients...
Background The objective of this study was to motor and nonmotor symptoms striatal dopaminergic denervation, as well the relationship between them, in a cohort asymptomatic relatives patients with Parkinson's disease (PD) R1441G-leucine-rich repeat kinase 2 mutation. Methods Asymptomatic PD mutation were tested for presence evaluated striatal, putamenal, caudate transporters using 123I-2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl)-nortropane single-photon emission computed tomography...
ABSTRACT Background Increased cancer risk has been reported in Parkinson's disease (PD) patients carrying the leucine rich repeat kinase 2 ( LRRK2 ) G2019S mutation LRRK2‐ PD) comparison with idiopathic PD (IPD). It is unclear whether elevated would be maintained when compared unaffected controls. Methods Cancer outcomes were among 257 patients, 712 IPD and 218 controls recruited from 7 consortium centers using mixed‐effects logistic regression. Data then pooled a previous study to examine...
Abstract Background Whole-exome sequencing (WES) and whole-genome (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms maximise WES/WGS diagnostic yield in disease patients. Most devoted this aim take advantage of patient phenotype information prioritization genomic data, although are often limited by incomplete gene-phenotype knowledge stored biomedical databases a lack proper...
ABSTRACT Leucine-rich repeat kinase 2 (LRRK2) inhibition is a promising disease-modifying therapy for LRRK2-associated Parkinson’s disease (L2PD) and idiopathic PD (iPD). Yet, pharmaco-dynamic readouts progression biomarkers modification clinical trials are insufficient. Employing phospho-/proteomic analyses we assessed the impact that LRRK2 activating mutations had in peripheral blood mononuclear cells (PBMCs) from cohort Spain (n=174) encompassing G2019S L2PD patients (n=37),...
Abstract Leucine-rich repeat kinase 2 (LRRK2) inhibition is a promising disease-modifying therapy for LRRK2-associated Parkinson’s disease (L2PD) and idiopathic PD (iPD). However, pharmaco-dynamic readouts progression biomarkers clinical trials aiming modification are insufficient since no endogenous marker reflecting enhanced activity of the most common LRRK2 G2019S mutation has been reported yet in L2PD patients. Employing phospho-/proteomic analyses we assessed impact that activating...
ABSTRACT Background The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture neurodegenerative diseases. Objectives To perform largest Parkinson disease (PD) genome-wide association study (GWAS) restricted to a single country. Methods We performed GWAS both risk PD age-at-onset (AAO) in 7,849 Spanish individuals. Further analyses included population-specific haplotype...
ABSTRACT Objective The lack of knowledge about the onset and progression Parkinson’s disease (PD) hampers its early diagnosis treatment. Our aim was to determine biochemical remodeling induced by PD in a really pre-symptomatic stage unveiling potential diagnostic biomarkers adopting multiplatform (LC-MS, GC-MS, CE-MS) untargeted metabolomics approach. Methods 41,437 healthy volunteers from European Prospective Study on Nutrition Cancer (EPIC)-Spain cohort were followed for around 15 years...