A5102958169- Dementia and Cognitive Impairment Research
- Alzheimer's disease research and treatments
- Functional Brain Connectivity Studies
- Cancer-related cognitive impairment studies
- Neurological Disease Mechanisms and Treatments
- Neurobiology of Language and Bilingualism
- Memory and Neural Mechanisms
- Genomics and Rare Diseases
- Bioinformatics and Genomic Networks
- Palliative Care and End-of-Life Issues
- Health, Education, and Physical Culture
- Subtitles and Audiovisual Media
- Prion Diseases and Protein Misfolding
- Health Systems, Economic Evaluations, Quality of Life
- Cholinesterase and Neurodegenerative Diseases
- Developmental and Educational Neuropsychology
- Amyotrophic Lateral Sclerosis Research
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2018-2025
Universitat de Barcelona
1984-2025
Fundació Clínic per a la Recerca Biomèdica
2020-2025
Hospital Clínic de Barcelona
2017-2025
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....
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...
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)....
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...
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...
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...
Sex is believed to drive heterogeneity in Alzheimer's disease (AD), although evidence early-onset AD (EOAD; <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...
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...
Abstract Background Alzheimer's disease (AD) features a complex interplay of factors influencing cognitive decline. While CSF and plasma biomarkers have widely demonstrated their diagnostic utility, whether they may add prognostic value remains unrevealed. With this longitudinal study we aim to address knowledge gap by evaluating the predictive several fluid over decline in cohort biomarker‐confirmed AD individuals. Method We included 139 participants with biologically‐confirmed (A+T+N+)....
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...
How the APOE genotype can differentially affect cortical and subcortical memory structures in biomarker-confirmed early-onset (EOAD) late-onset (LOAD) Alzheimer's disease (AD) was assessed.Eighty-seven cerebrospinal fluid (CSF) AD patients were classified according to their age at onset. 28 EOAD APOE4 carriers (+EOAD), 21 non-carriers (-EOAD), 23 LOAD (+LOAD) 15 (-LOAD). Grey matter (GM) volume differences analyzed using voxel-based morphometry Papez circuit regions. Multiple regression...
Abstract Background Early‐onset Alzheimer’s disease (EOAD, onset before 65 years), is the most common early‐onset neurodegenerative dementia. However, it still represents a diagnostic challenge especially when compared with late‐onset (LOAD). Our aim was to describe and compare neuropsychological presentation at diagnosis its progression in patients EOAD LOAD. Methods One‐hundred ninety‐five participants were included classified accordingly their CSF AD biomarker profile clinical status: 46...
The ongoing COVID-19 pandemic and related care policies have affected dementia patients. characteristics of early-onset (EOD, <65 years) patients in 2020 may provide insights on how to rearrange the provision care.We retrospectively reviewed, from 2016 2020, demographic clinical data new referrals at our EOD clinic (Hospital Clínic Barcelona). We used Fisher's Exact test Mann-Whitney U R4.0.2 (http://www.R-project.org/) analyze differences between period 2016-2019.In we did not visit any...
Abstract Background The diagnosis of early‐onset neurodegenerative dementias (<65 years) can represent a challenge due to their lower frequency respect late‐onset and atypical forms presentation. Cognitive impairment has emerged as frequent complaint after COVID‐19 infection. Method We retrospectively reviewed (2016‐2021) the demographic clinical data new referrals at our early onset dementia clinic (Hospital Clínic Barcelona). used Fisher’s Exact test ANOVA in Stata/IC 16.1 analyze...
NIA-AA 2011 diagnostic criteria include volumetric or visual rating measures of hippocampal atrophy (HA) as a biomarker Alzheimer's disease (AD). Non-amnestic symptoms are more frequent in early-onset (EOAD) than late-onset AD and not expected to be associated HA. Thus, it would interest know if HA is useful for early diagnosis EOAD. Retrospective cross-sectional study. A total 74 subjects were included: 58 EOAD (defined by age at onset<65 years, typical CSF biomarkers profile MMSE>20), 38...
To evaluate whole exome sequencing (WES) in early-onset Alzheimer's disease (EOAD) and frontotemporal dementia (FTD) patients (age of onset <65 years) to study known candidate genes that are causing look for new genetic variants could be implicated these diseases, both missense nonsense variants, little insertions, deletions or duplications result frameshift mutations copy-number (CNVs). 87 were selected: 57 EOAD with biological confirmation (positive cerebrospinal fluid AD biomarkers) 30...
The hippocampus (HC) has long been regarded as a homogenous structure, critically involved in episodic memory and neuronal injury biomarker for the pathophysiological process of Alzheimer's disease. Recent anatomical neuroimaging studies, however, suggest that HC different cortical connectivity functionality along its longitudinal axis. In this study we sought to elucidate possible pattern atrophy axis between Amyloid/Tau pathology TDP-43-pathies confirmed patients. We hypothesized...
Abstract Background Early‐onset dementia (EOD; <65 years) raises both diagnostic and social/health care challenges. Services for are often designed the elderly might have difficulties supplying EOD needs. Clinical epidemiological data needed planning. Method We aim to describe demographic clinical characteristics of all new referrals our clinic during last 4 years (2016‐2019). charts were reviewed retrospectively. Both, sporadic genetic cases included in analysis. evaluate type symptoms,...
Abstract Background The amyloid deposition (A) in the 2018 ATN classification of Alzheimer disease can be assessed by CSF Aβ 1‐42 or PET. Although agreement between them is high, it not exact. Method We selected patients from Alzheimer’s and other cognitive disorders Unit at Hospital Clínic Barcelona with available PET lumbar puncture, a maximum difference time one half year them. used F18 Florbetapir (n=27), Florbetaben (n=7), Flutemetamol (n=16) 11C‐PIB (n=2) as tracers for 1‐42, total tau...