Guadalupe Fernández‐Villullas

ORCID: 0000-0002-0569-1344
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About
Contact & Profiles
Research Areas
  • Dementia and Cognitive Impairment Research
  • Alzheimer's disease research and treatments
  • Functional Brain Connectivity Studies
  • Bioinformatics and Genomic Networks
  • Neurological Disease Mechanisms and Treatments
  • Aging, Health, and Disability
  • Health and Medical Education
  • Sleep and related disorders
  • Amyotrophic Lateral Sclerosis Research
  • Epigenetics and DNA Methylation
  • Sleep and Wakefulness Research
  • Cancer-related cognitive impairment studies
  • Circadian rhythm and melatonin
  • Bipolar Disorder and Treatment
  • Parkinson's Disease Mechanisms and Treatments
  • Neurobiology of Language and Bilingualism
  • Amyloidosis: Diagnosis, Treatment, Outcomes
  • Medical Imaging Techniques and Applications
  • Cognitive Functions and Memory
  • Palliative Care and End-of-Life Issues
  • Drug Transport and Resistance Mechanisms
  • Health, Environment, Cognitive Aging
  • EEG and Brain-Computer Interfaces
  • Traumatic Brain Injury and Neurovascular Disturbances
  • Prion Diseases and Protein Misfolding

Hospital Clínic de Barcelona
2019-2025

Universitat de Barcelona
2019-2025

Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2018-2025

Fundació Clínic per a la Recerca Biomèdica
2020-2025

Biomedical Research Networking Center on Neurodegenerative Diseases
2025

Alzheimer’s Disease Neuroimaging Initiative
2015

There is evidence longitudinal atrophy in posterior brain areas early-onset Alzheimer's disease (EOAD; aged<65years), but no studies have been conducted an EOAD cohort with fluid biomarkers characterization. We used 3T-MRI and Freesurfer 6.0 to investigate cortical subcortical gray matter loss at two years 12 patients (A+T+N+) compared 19 controls (A-T-N-) from the Hospital Clínic Barcelona cohort. explored group differences patterns we correlated baseline CSF-biomarkers levels EOAD....

10.1016/j.nicl.2021.102804 article EN cc-by-nc-nd NeuroImage Clinical 2021-01-01

Early- and late-onset Alzheimer's disease (EOAD LOAD) share the same neuropathological traits but show distinct cognitive features. We aimed to explore baseline longitudinal outcomes of global domain-specific function in a well characterized cohort patients with biomarker-based diagnosis.In this retrospective study, 195 participants were included classified according their age, clinical status, CSF AD biomarker profile: 89 EOAD, 37 LOAD, 46 young healthy controls (age ≤ 65 years), 23 old...

10.1002/acn3.51689 article EN cc-by-nc-nd Annals of Clinical and Translational Neurology 2022-11-17

NIA-AA diagnostic criteria include volumetric or visual rating measures of hippocampal atrophy (HA) as a biomarker Alzheimer's disease (AD). We aimed to determine its utility for early onset (EOAD) by assessing Medial Temporal Atrophy (MTA) and volume (HV) determination. MTA score HV quantified FreeSurfer were assessed in 140 (aged ≤65) subjects with supported diagnosis: 38 amnesic (A-EOAD), 20 non-amnesic (NA-EOAD), 30 late AD (LOAD), fronto-temporal dementia (FTD) 32 healthy controls (HC)....

10.1016/j.nicl.2019.101927 article EN cc-by-nc-nd NeuroImage Clinical 2019-01-01

Early-onset Alzheimer's disease (EOAD) shows a higher burden of neuropsychiatric symptoms than late-onset (LOAD). We aim to determine the differences in severity and locus coeruleus (LC) integrity between EOAD LOAD accounting for stage.

10.1002/alz.14131 article EN cc-by-nc-nd Alzheimer s & Dementia 2024-07-25

Determination of Alzheimer's disease (AD) by cerebrospinal fluid (CSF) biomarkers - 42-amino-acid amyloid-β (Aβ42), total tau and phosphorylated (p-tau) has demonstrated high validity for detecting AD neuropathological changes. However, their prognostic utility to predict the onset dementia in predementia subjects is still questioned. We aimed study prospective clinical evolution a group with subjective cognitive decline (SCD) or mild impairment (MCI) determine capacity CSF biomarkers.149...

10.1159/000439258 article EN Neurodegenerative Diseases 2015-11-11

Abstract Prior studies have described distinct patterns of brain gray matter and white alterations in Alzheimer's disease (AD) frontotemporal lobar degeneration (FTLD), as well differences their cerebrospinal fluid (CSF) biomarkers profiles. We aim to investigate the relationship between early‐onset AD (EOAD) FTLD structural CSF biomarker levels. included 138 subjects (64 EOAD, 26 FTLD, 48 controls), all them with a 3T MRI scan available (the 42 amino acid‐long form amyloid‐beta protein...

10.1002/hbm.24925 article EN cc-by-nc Human Brain Mapping 2020-01-16

We aimed to determine whether cognitively unimpaired (CU) amyloid- beta-positive (Aβ+) individuals display decreased practice effects on serial neuropsychological testing. included 209 CU participants from three research centers, 157 Aβ- controls and 52 Aβ+ individuals. Participants underwent assessment at baseline annually during a 2-year follow-up. used linear mixed-effects models analyze cognitive change over time between the two groups, including baseline, amyloid status, their...

10.1002/alz.70016 article EN cc-by-nc Alzheimer s & Dementia 2025-03-01

Several diagnostic biomarkers are currently available for clinical use in early-onset cognitive impairment. The decision on which biomarker is used each patient depends several factors such as its predictive value or tolerability.There were a total of 40 subjects with complaints (<65 years age): 26 Alzheimer's disease (AD), five frontotemporal dementia and nine suspicion non-neurodegenerative disorder. Clinical neuropsychological evaluation, lumbar puncture cerebrospinal fluid (CSF) AD core...

10.1111/ene.13945 article EN European Journal of Neurology 2019-02-22

Background: The diagnosis of incipient symptomatic stages early-onset dementia is challenging. magnetic resonance imaging (MRI) an easy-access biomarker. Objective: We aim to determine the distribution and diagnostic performance existing atrophy visual rating scales on MRI in initial most frequent neurodegenerative early onset dementias. Methods: evaluated usefulness two hundred subjects: seventy sporadic Alzheimer’s disease (AD) patients (48 amnestic 22 non-amnestic), 14 with...

10.3233/jad-191167 article EN Journal of Alzheimer s Disease 2020-01-13

Sex is believed to drive heterogeneity in Alzheimer's disease (AD), although evidence early-onset AD (EOAD; &lt;65 years) scarce.We included 62 EOAD patients and 44 healthy controls (HCs) with core cerebrospinal fluid (CSF) biomarkers, neurofilament light chain levels, neuropsychological assessment, 3-T magnetic resonance imaging. We measured cortical thickness (CTh) hippocampal subfield volumes (HpS) using FreeSurfer. Adjusted linear models were used analyze sex-differences the relationship...

10.1111/ene.15531 article EN European Journal of Neurology 2022-08-25

Abstract Background Little is known about the influence of age at onset (AAO) on plasma biomarkers and their use as prognostic in Alzheimer’s disease (AD). Method We selected patients with AD diagnosis available neuropsychological testing (NPS) time two years later, baseline. NPS battery included Free Cued Selective Reminding Test ( FCSRT ), Landscape test (visual memory), Boston Naming Test, Semantic Fluency, BDAE auditory comprehension, Constructional Ideomotor Praxis, Visual Object Space...

10.1002/alz.076178 article EN Alzheimer s & Dementia 2023-12-01

Epigenetics, a potential underlying pathogenic mechanism of neurodegenerative diseases, has been in the scope several studies performed so far. However, there is gap regard to analyzing different forms early-onset dementia and use Lymphoblastoid cell lines (LCLs). We genome-wide DNA methylation analysis on sixty-four samples (from prefrontal cortex LCLs) including those taken from patients with Alzheimer’s disease (AD) frontotemporal (FTD) healthy controls. A beta regression model adjusted...

10.3390/ijms25105445 article EN International Journal of Molecular Sciences 2024-05-16

Abstract Background Neuromodulatory subcortical systems (NSS) are affected from the early stages of Alzheimer’s Disease (AD) by accumulation tau pathology. Increased burden within nucleus that in control sleep and wake regulation may contribute to breakdown sleep‐wake patterns AD. A recent postmortem study showed wake‐promoting neurons were related phenotypes AD PSP, being greater neuronal count locus coeruleus (LC), tuberomammillary (TMN), lateral hypothalamic area (LHA) associated with a...

10.1002/alz.085382 article EN cc-by Alzheimer s & Dementia 2024-12-01

Abstract Background Autosomal dominant Alzheimer’s Disease (ADAD) represents around 0.5% of all AD cases, and is caused by mutations in PSEN1 , PSEN2 APP genes. Gene expression studies can be useful for unravelling the physiopathology identifying potential biomarkers. However, most are focused on late‐onset (LOAD), mainly brain tissue or immune cells. Preliminary data from our group showed 9 common differentially expressed genes (DEGs) both lymphoblastoid cell lines ADAD versus healthy...

10.1002/alz.089842 article EN cc-by Alzheimer s & Dementia 2024-12-01

Abstract Background Epigenetic mechanisms as a potential underlying pathogenic mechanism of neurodegenerative diseases have been the scope several studies performed so far. However, there is gap in analyzing different forms early‐onset dementia to minimize effect aging and use Lymphoblastoid cell lines (LCLs) possible disease model for earlier clinical phases. Method We genome‐wide DNA methylation analysis 64 samples (from prefrontal cortex lymphoblastoid lines) from Alzheimer’s Disease (AD)...

10.1002/alz.088732 article EN cc-by Alzheimer s & Dementia 2024-12-01

Abstract Background Practice effects are a well‐known cognitive phenomenon that is reduced in patients with Alzheimer’s disease (AD). We aimed to investigate whether cognitively unimpaired (CU) individuals within the continuum (i.e., positive amyloid‐β biomarker) display decreased practice on serial neuropsychological testing. Methods included 310 CU from four Spanish research centers, classified into controls (n = 250) or Aβ+ 60). In main cohort (Cohort A; n 209), participants underwent...

10.1002/alz.087332 article EN cc-by Alzheimer s & Dementia 2024-12-01
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