Albert Lladó

Albert Lladó
  • Doctor of Medicine
  • Hospital Clínic de Barcelona

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293
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9,284
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Current institution
Hospital Clínic de Barcelona

Publications

Publications (293)
Article
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INTRODUCTION We aimed to determine whether cognitively unimpaired (CU) amyloid‐ beta‐positive (Aβ+) individuals display decreased practice effects on serial neuropsychological testing. METHODS We included 209 CU participants from three research centers, 157 Aβ− controls and 52 Aβ+ individuals. Participants underwent neuropsychological assessment a...
Article
Discrepancies in results between cerebrospinal fluid (CSF) 14-3-3 protein and prion protein detection using real-time quaking-induced conversion (RT-QuIC) might limit the confidence in ante-mortem clinical diagnosis of sporadic Creutzfeldt–Jakob disease (sCJD). We aimed to evaluate the concordance and diagnostic performance of 14-3-3 protein and RT...
Article
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Objectives Frontotemporal dementia (FTD) usually shows more asymmetric atrophy patterns than Alzheimer’s disease (AD). We aim to quantify this asymmetry to differentiate FTD, AD, and FTD subtypes. Methods We studied T1-MRI scans, including FTD (different phenotypes), AD, and healthy controls (CTR). We defined the Cortical Asymmetry Index (CAI) usi...
Article
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PSEN1 mutations are the most frequent cause of autosomal dominant Alzheimer’s disease (ADAD), and show nearly full penetrance. There is presently increasing interest in the study of biomarkers that track disease progression in order to test therapeutic interventions in ADAD. We used white mater (WM) volumetric characteristics and diffusion tensor i...
Article
We used an untargeted mass spectrometric approach, tandem mass tag proteomics, for the identification of proteomic signatures in genetic frontotemporal dementia (FTD). A total of 238 cerebrospinal fluid (CSF) samples from the Genetic FTD Initiative were analyzed, including samples from 107 presymptomatic (44 C9orf72 , 38 GRN , and 25 MAPT ) and 55...
Article
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Plasma tau phosphorylated at threonine 181 (p-tau181) and 217 (p-tau217) have demonstrated high accuracy for Alzheimer’s disease (AD) diagnosis, defined by CSF/PET amyloid beta (Aβ) positivity, but most studies have been performed in research cohorts, limiting their generalizability. We studied plasma p-tau217 and p-tau181 for CSF Aβ status discrim...
Article
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Background Primary progressive aphasia (PPA) is a language‐based dementia linked with underlying Alzheimer’s disease (AD) or frontotemporal dementia. Clinicians often report difficulty differentiating between the logopenic (lv) and nonfluent/agrammatic (nfv) subtypes, as both variants present with disruptions to “fluency” yet for different underlyi...
Article
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Background Although Alzheimer’s disease (AD) is a common cause of dementia, whether patients and caregivers have notions of its risk factors, behavioral aspects or care considerations is unclear. Therefore, our study aims to evaluate caregiver’s knowledge of AD by using the Alzheimer’s Disease Knowledge Scale (ADKS). Method The ADKS is a comprehen...
Article
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Background Sleep‐wake alterations are common symptoms in Alzheimer’s Disease (AD) associated with faster cognitive decline. Noradrenaline dysfunction and neuroinflammation have been proposed as potential driving mechanisms. The ADIS project aims to study the relationship between sleep‐wake patterns, immune signatures (peripheral blood cytotoxic lym...
Article
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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 this knowledge gap by evaluating the predictive value o...
Article
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Background Primary progressive aphasia (PPA) is a language‐based dementia linked with underlying Alzheimer’s disease (AD) or frontotemporal dementia. Clinicians often report difficulty differentiating between the logopenic (lv) and nonfluent/agrammatic (nfv) subtypes, as both variants present with disruptions to “fluency” yet for different underlyi...
Article
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Background Neuropsychological performance guides diagnostic and therapeutic decision‐making on Alzheimer’s disease (AD) and related disorders. Despite broad recognition that amyloid‐beta (Aβ) impacts cognition during preclinical AD, the added value of Aβ‐negative norms remains uncertain. Furthermore, normative modeling is constrained by limitations...
Article
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Background Epigenetic mechanisms as a potential underlying pathogenic mechanism of neurodegenerative diseases have been the scope of several studies performed so far. However, there is a gap in analyzing different forms of early‐onset dementia to minimize the effect of aging and the use of Lymphoblastoid cell lines (LCLs) as a possible disease mode...
Article
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Background Autosomal dominant Alzheimer’s Disease (ADAD) represents around 0.5% of all AD cases, and is caused by mutations in PSEN1, PSEN2 and APP genes. Gene expression studies can be useful for unravelling the physiopathology of AD and identifying potential biomarkers. However, most studies are focused on late‐onset AD (LOAD), and mainly on brai...
Article
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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 Alzheimer’s continuum (i.e., positive amyloid‐β biomarker) display decreased practice effects on serial neuropsychological testing. Methods W...
Article
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Background Neuromodulatory subcortical systems (NSS) are affected from the early stages of Alzheimer’s Disease (AD) by the accumulation of tau pathology. Increased tau burden within the subcortical nucleus that are in control of sleep and wake regulation may contribute to the breakdown of sleep‐wake patterns in AD. A recent postmortem study showed...
Article
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Background and objectives: Pathogenic variants in the GRN gene cause frontotemporal dementia (FTD-GRN) with marked brain asymmetry. This study aims to assess whether the disease progression of FTD-GRN depends on the initial side of the atrophy. We also investigated the potential use of brain asymmetry as a biomarker of the disease. Methods: Retr...
Article
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Background: Quantitative neuroimaging might unveil abnormalities in prion diseases that are not perceivable at visual inspection. On the other hand, scarce studies have quantified volumetric changes in prion diseases. Objectives: We aim to characterize volumetric and diffusion tensor imaging (DTI) changes in patients with prion diseases who present...
Article
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Purpose Primary progressive aphasia (PPA) is a neurodegenerative disorder characterized by worsening of speech and/or language. Script training intervention promotes automatized speech production via repeated practice of scripted content. This study evaluated the acceptability, feasibility, and effects of a modified version of Video-Implemented Scr...
Article
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INTRODUCTION Early‐onset Alzheimer's disease (EOAD) shows a higher burden of neuropsychiatric symptoms than late‐onset Alzheimer's disease (LOAD). We aim to determine the differences in the severity of neuropsychiatric symptoms and locus coeruleus (LC) integrity between EOAD and LOAD accounting for disease stage. METHODS One hundred four subjects...
Article
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Wasteosomes (or corpora amylacea) are polyglucosan bodies that appear in the human brain with aging and in some neurodegenerative diseases, and have been suggested to have a potential role in a nervous system cleaning mechanism. Despite previous studies in several neurodegenerative disorders, their status in frontotemporal lobar degeneration (FTLD)...
Article
The glymphatic system is an emerging target in neurodegenerative disorders. Here, we investigated the activity of the glymphatic system in genetic frontotemporal dementia with a diffusion-based technique called diffusion tensor image analysis along the perivascular space. We investigated 291 subjects with symptomatic or presymptomatic frontotempora...
Article
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Previous studies have suggested a relationship between the number of CAG triplet repeats in the HTT gene and neurodegenerative diseases not related to Huntington's disease (HD). This study seeks to investigate whether the number of CAG repeats of HTT is associated with the risk of developing certain tauopathies and its influence as a modulator of t...
Preprint
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Background: Frontotemporal dementia (FTD) patients usually show more asymmetric atrophy patterns than Alzheimer’s Disease (AD) patients. Here, we define the individual Cortical Asymmetry Index (CAI) and explore its diagnostic utility. Methods: We collected structural T1-MRI scans from 554 participants, including FTD (different phenotypes), AD, and...
Article
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We analyzed Lewy body (LB) pathology in 18 autosomal dominant Alzheimer’s disease (ADAD) brains via immunohistochemistry. Real-time quaking induced conversion was used to detect misfolded α-synuclein (α-syn) in 18 living ADAD cerebrospinal fluid (CSF) samples. Concomitant LB pathology was present in 44% ADAD brains. Only 6% CSF samples were positiv...
Article
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Plasma biomarkers have emerged as promising tools for identifying amyloid beta (Aβ) pathology. Before implementation in routine clinical practice, confounding factors modifying their concentration beyond neurodegenerative diseases should be identified. We studied the association of a comprehensive list of demographics, comorbidities, medication and...
Article
Background The Catalan Early Onset Neurodegenerative Dementia Network is a multicenter project launched in 2020 with the aim of understanding the epidemiology and clinical care of people with early‐onset neurodegenerative dementia and their caregivers. Methods Neurologists and geriatricians visiting patients with cognitive impairment in Catalonia...
Article
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Background Despite previous studies establishing cognitive impairment as a major complaint in post‐acute COVID‐19 syndrome (PACS), a deeper understanding of the neuropsychological features and underlying causes is needed. We aimed to characterize the cognitive profile of patients affected with cognitive PACS and the influence of biological and psyc...
Article
Background Little is known about the influence of age at onset (AAO) on plasma biomarkers and their use as prognostic biomarkers in Alzheimer’s disease (AD). Method We selected patients with AD diagnosis with available neuropsychological testing (NPS) at time of diagnosis and two years later, and plasma biomarkers at baseline. NPS battery included...
Article
Background Neuropsychiatric symptoms, including sleep‐wake disturbances, are more common in Early‐onset Alzheimer’s disease (EOAD) than in Late‐onset AD (LOAD)( Falgàs, EurJNeurol2022 ). The pattern of tau‐related degeneration of wake and sleep‐promoting neurons determine sleep‐wake profiles in neurodegenerative disorders ( Oh, JAMANeurol2022 ). We...
Article
Background Plasma Neurofilament light chain (pNfL) is a promising biomarker to discriminate Frontotemporal dementia (FTD) from other diagnoses such as Alzheimer’s disease (AD) or psychiatric disorders. Currently, the diagnostic criteria for FTD syndromes are structured hierarchically into “Possible”, “Probable” and “Definite” levels depending on th...
Article
Background One of the clinical problems for biomarkers' clinical use is the ability to differentiate between Alzheimer’s disease (AD), frontotemporal dementia (FTD), and healthy subjects (CTR). This clearly challenges diagnosis and prognosis. We implemented a ML algorithm that provides individual probabilistic diagnoses for these dementias based on...
Article
Background The diagnosis of early‐onset neurodegenerative dementias (<65 years) can represent a challenge due to their lower frequency respect to late‐onset dementias and atypical forms of presentation. Cognitive impairment has emerged as a frequent complaint after COVID‐19 infection. Method We retrospectively reviewed (2016‐2021) the demographic...
Article
Background The application of blood‐based biomarkers for the identification of Alzheimer’s disease (AD) and the development of novel digital technologies as cognitive screening tests are critical to moving toward a reliable, more accessible early diagnosis. Our aim was to evaluate the diagnostic performance of a machine learning‐based cognitive ass...
Article
Background Post‐acute Covid‐19 syndrome (PACS) frequently refers to cognitive complaints. It is not yet clear whether there is an association between cognitive symptoms with brain changes or neuropsychiatric symptoms. Our aims are 1) to study cross‐sectional and longitudinal MRI brain measures in a cohort of PACS and 2) their association with cogni...
Article
Background Blood‐based biomarkers have recently emerged as minimally‐invasive, accessible and relatively inexpensive diagnostic and prognostic tools for people with cognitive impairment. Before being routinely implemented in clinical practice, the diagnostic performance of distinct commercially available assays should be studied in real‐world cohor...
Article
Background Lewy Body Dementia (LBD) is the second most common neurodegenerative dementia. To date, no validated biochemical marker is available to support clinical diagnosis. The development of the Real‐Time Quaking‐Induced Conversion (RT‐QuIC) assay for detecting alpha‐synuclein (aSyn) seeds in biological samples can be a sensitive biomarker speci...
Article
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INTRODUCTION Neuroinflammation is a major contributor to the progression of frontotemporal dementia (FTD). Galectin‐3 (Gal‐3), a microglial activation regulator, holds promise as a therapeutic target and potential biomarker. Our study aimed to investigate Gal‐3 levels in patients with FTD and assess its diagnostic potential. METHODS We examined Ga...
Article
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Background and objective Alzheimer’s disease (AD) and frontotemporal dementia (FTD) show different patterns of cortical thickness (CTh) loss compared with healthy controls (HC), even though there is relevant heterogeneity between individuals suffering from each of these diseases. Thus, we developed CTh models to study individual variability in AD,...
Preprint
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Background Neuroimaging and fluid biomarkers are used in clinics to differentiate frontotemporal dementia (FTD) from Alzheimer’s disease (AD) and other neurodegenerative and non-neurodegenerative disorders. We implemented a machine learning (ML) algorithm that provides individual probabilistic scores for these patients based on magnetic resonance i...
Preprint
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We aimed to characterize the cognitive profile of post-acute COVID-19 syndrome (PACS) patients with cognitive complaints, exploring the influence of biological and psychological factors. Participants with confirmed SARS-CoV-2 infection and cognitive complaints ≥ eight weeks post-acute phase were included. A comprehensive neuropsychological battery...
Article
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Background Plasma biomarkers reflecting the pathology of frontotemporal dementia would add significant value to clinical practice, to the design and implementation of treatment trials as well as our understanding of disease mechanisms. The aim of this study was to explore the levels of multiple plasma proteins in individuals from families with gene...
Article
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Core Alzheimer’s disease (AD) cerebrospinal fluid (CSF) biomarkers have shown incomplete agreement with amyloid-positron emission tomography (PET). Our goal was to analyze the agreement between AD CSF biomarkers and amyloid-PET in a multicenter study. Retrospective multicenter study (5 centers). Participants who underwent both CSF biomarkers and am...
Article
Background In healthy ageing, there is evidence of sex differences in vulnerability of hippocampal subfields to volume loss. However, this has not been investigated in early‐onset Alzheimer’s disease (<65 years; EOAD). Method We included 106 subjects: 62 EOAD (A+T+N+, MMSE>15) and 44 healthy controls (HC; A‐T‐N‐) that underwent lumbar puncture for...
Article
Background Currently used biomarkers for the differential diagnosis of cognitive impairment are expensive and/or relatively invasive, limiting their availability to the general population. Blood protein biomarkers have showed promising results for screening, differential diagnosis, and prognosis. We aimed to study the diagnostic performance of plas...
Article
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Background Primary progressive aphasia (PPA) is a group of neurodegenerative disorders including Alzheimer’s disease and frontotemporal dementia characterized by language deterioration. Transcranial direct current stimulation (tDCS) is a non-invasive intervention for brain dysfunction. Objective To evaluate the tolerability and efficacy of tDCS co...
Article
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Background: The diagnosis of symptomatic Alzheimer's disease is a clinical challenge in adults with Down syndrome. Blood biomarkers would be of particular clinical importance in this population. The astrocytic Glial Fibrillary Acidic Protein (GFAP) is a marker of astrogliosis associated with amyloid pathology, but its longitudinal changes, associa...
Article
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Biomarkers that can predict disease progression in individuals with genetic frontotemporal dementia are urgently needed. We aimed to identify whether baseline MRI-based grey and white matter abnormalities are associated with different clinical progression profiles in presymptomatic mutation carriers in the GENetic Frontotemporal dementia Initiative...
Article
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Alzheimer’s disease (AD) is the most common cause of dementia worldwide. Increasing evidence points to the thalamus as an important hub in the clinical symptomatology of the disease, with the ‘limbic thalamus’ been described as especially vulnerable. In this work, we examined thalamic atrophy in early-onset AD (EOAD) and late-onset AD (LOAD) compar...
Article
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Alzheimer's disease (AD) and frontotemporal dementia (FTD) are common causes of dementia with partly overlapping, symptoms and brain signatures. There is a need to establish an accurate diagnosis and to obtain markers for disease tracking. We combined unsupervised and supervised machine learning to discriminate between AD and FTD using brain magnet...
Conference Paper
Posterior cortical atrophy (PCA) is a clinically defined syndrome characterized by impairment in higher‐order visual processing. The underlying pathology in PCA is most commonly Alzheimer’s disease (AD), but large‐scale biomarker and neuropathological studies are lacking. In this ongoing project we aim to describe demographic, clinical, biomarker a...
Article
Early‐onset Alzheimer’s Disease presentations (EOAD, under 65) frequently present with atypical phenotypes and a more aggressive disease course with a higher burden of neuropsychiatric symptoms than late‐onset AD (LOAD). Current treatments for sleep and behavioral disturbances are still non‐specific, causing side effects (e.g., sedation, falls). Id...
Article
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Background Behavioural variant fronto-temporal dementia (bvFTD) is characterised by a progressive change in personality in association with atrophy of the frontal and temporal lobes. Whilst language impairment has been described in people with bvFTD, little is currently known about the extent or type of linguistic difficulties that occur, particula...
Article
While frontotemporal dementia has been considered a neurodegenerative disease that starts in mid-life or later, it is now clearly established that cortical and subcortical volume loss is observed more than a decade prior to symptom onset and progresses with ageing. To test the hypothesis that genetic mutations causing frontotemporal dementia have n...
Article
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Background Clinical endpoints for upcoming therapeutic trials in frontotemporal dementia (FTD) are increasingly urgent. Cognitive composite scores are often used as endpoints but are lacking in genetic FTD. We aimed to create cognitive composite scores for genetic frontotemporal dementia (FTD) as well as recommendations for recruitment and duration...
Article
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Background: Assess how APOE genotype can differentially affect cortical and subcortical memory structures in biomarker-confirmed early and late-onset Alzheimer's Disease (EOAD-LOAD). Methods: Eighty-seven CSF biomarker-confirmed AD patients were classified according to their APOE genotype and age at onset. 28 were EOAD APOE4 carriers (+EOAD), 21...
Article
Background and Objectives Blood-based biomarkers have emerged as minimally-invasive options for evaluating cognitive impairment. Most studies to date have assessed them in research cohorts, limiting their generalization to everyday clinical practice. We evaluated their diagnostic performance and clinical applicability in a prospective, real-world,...
Article
Background and objectivesThe C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD) and/or motor neuron disease (MND). Corticospinal degeneration has been described in post-mortem neuropathological studies in these patients, especially in those with MND. We used MRI to analyze white matter (WM) volumes in presymptomatic...
Article
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Objective To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD). Methods Eight hundred and thirty-two participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 522 mutation carriers (with C9orf72 , GRN and MAPT mutations) and 310 mutation-n...
Article
Resumen Introducción Actualmente no existe una herramienta que permita cuantificar la apraxia bucofonatoria para estratificar, comparar y monitorizar longitudinalmente a los pacientes de manera objetiva. Nuestro objetivo en el presente trabajo es crear una escala cuantitativa para la apraxia bucofonatoria y evaluarla en pacientes con la variante n...
Article
Introduction Currently there is no tool to quantify buccophonatory apraxia to stratify, compare and monitor patients longitudinally in an objective manner. Our aim in this study is to create a quantitative scale for buccophonatory apraxia and evaluate it in patients with the non-fluent/grammatical variant of Primary Progressive Aphasia (nfvPPA) and...
Article
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Background Neuroinflammation is emerging as an important pathological process in frontotemporal dementia (FTD), but biomarkers are lacking. We aimed to determine the value of complement proteins, which are key components of innate immunity, as biomarkers in cerebrospinal fluid (CSF) and plasma of presymptomatic and symptomatic genetic FTD mutation...
Article
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Background Approximately a third of frontotemporal dementia (FTD) is genetic with mutations in three genes accounting for most of the inheritance: C9orf72 , GRN , and MAPT . Impaired synaptic health is a common mechanism in all three genetic variants, so developing fluid biomarkers of this process could be useful as a readout of cellular dysfunctio...
Article
Introduction: Sex is believed to drive heterogeneity in Alzheimer's disease (AD), although evidence in early-onset AD (<65 years, EOAD) is scarce. Methods: We included 62 EOAD patients and 44 healthy controls (HC) with cerebrospinal fluid (CSF) AD's core biomarkers and neurofilament light chain levels, neuropsychological assessment, and 3T-MRI....
Article
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Linear mixed effects (LME) modelling under both frequentist and Bayesian frameworks can be used to study longitudinal trajectories. We studied the performance of both frameworks on different dataset configurations using hippocampal volumes from longitudinal MRI data across groups—healthy controls (HC), mild cognitive impairment (MCI) and Alzheimer’...
Article
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Sporadic early-onset Alzheimer’s disease (EOAD) and autosomal dominant Alzheimer’s disease (ADAD) provide the opportunity to investigate the physiopathological mechanisms in the absence of aging, present in late-onset forms. Frontotemporal dementia (FTD) causes early-onset dementia associated to tau or TDP43 protein deposits. A 15% of FTD cases are...
Article
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This study aimed at determining the cost-effectiveness of amyloid-positron emission tomography (PET) compared to Alzheimer’s disease (AD) cerebrospinal fluid (CSF) biomarkers (amyloid-β42, total-Tau and phosphorylated-Tau) for the diagnosis of AD in patients with early-onset cognitive impairment. A decision tree model using a national health care p...
Preprint
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Linear Mixed Effects (LME) modelling under both frequentist and Bayesian frameworks have been suggested to study longitudinal trajectories. We studied the performance of both approaches on different dataset configurations using hippocampal volumes from longitudinal MRI data across groups - healthy controls (HC), mild cognitive impairment (MCI) and...
Article
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BackgroundMRI atrophy predicts cognitive status in AD. However, this relationship has not been investigated in early-onset AD (EOAD, < 65 years) patients with a biomarker-based diagnosis.Methods Forty eight EOAD (MMSE ≥ 15; A + T + N +) and forty two age-matched healthy controls (HC; A − T − N −) from a prospective cohort underwent full neuropsycho...
Article
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Introduction A third of frontotemporal dementia (FTD) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau ( MAPT ), chromosome 9 open reading frame 72 ( C9orf72 ) and progranulin ( GRN ). Prior studies of prodromal FTD have identified impaired executive function and social cognition early in...
Article
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INTRODUCTION: A third of frontotemporal dementia (FTD) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (MAPT), chromosome 9 open reading frame 72 (C9orf72) and progranulin (GRN). Prior studies of prodromal FTD have identified impaired executive function and social cognition early in the...
Article
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Background Cortical mean diffusivity is a novel imaging metric sensitive to early changes in neurodegenerative syndromes. Higher cortical mean diffusivity values reflect microstructural disorganization and have been proposed as a sensitive biomarker that might antedate macroscopic cortical changes. We aimed to test the hypothesis that cortical mean...
Article
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Background Although social cognitive dysfunction is a major feature of frontotemporal dementia (FTD), it has been poorly studied in familial forms. A key goal of studies is to detect early cognitive impairment using validated measures in large patient cohorts. Methods We used the Revised Self-Monitoring Scale (RSMS) as a measure of socioemotional...
Article
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Background A detailed understanding of the pathological processes involved in genetic frontotemporal dementia is critical in order to provide the patients with an optimal future treatment. Protein levels in CSF have the potential to reflect different pathophysiological processes in the brain. We aimed to identify and evaluate panels of CSF proteins...
Article
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Background Diagnostic accuracy for the early detection of mild cognitive impairment (MCI) is critical both in the clinical and research settings. Our aim was to evaluate the diagnostic performance of the ALTOIDA‐iADL test in subjects with non‐degenerative MCI and prodromal (pAD) and mild (mAD) Alzheimer's disease. Methods ALTOIDA‐iADL is a 10‐minu...
Article
Background The behavioral variant of frontotemporal dementia (bvFTD) is characterized by progressive behavioral change along with social, cognitive, and functional deterioration. In contrast Alzheimer´s disease, patients with bvFTD show an anterior pattern of neurodegeneration with selective involvement of the frontotemporal cortex. Biological sex...
Article
Background The amyloid deposition (A) in the 2018 ATN classification of Alzheimer disease can be assessed by CSF Aβ 1‐42 or amyloid PET. Although the agreement between them is high, it is not exact. Method We selected patients from the Alzheimer’s disease and other cognitive disorders Unit at Hospital Clínic of Barcelona with available amyloid PET...
Article
Background: The ongoing COVID-19 pandemic and related care policies have affected dementia patients. The characteristics of early-onset dementia (EOD, <65 years) patients in 2020 may provide insights on how to rearrange the provision of care. Method: We retrospectively reviewed, from 2016 to 2020, the demographic and clinical data of the new ref...
Article
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Background Alzheimer’s disease (AD) is a significant burden on patients and caregivers. How this burden increases as disease progresses has not been well researched. Objective To assess the association of caregiver burden and quality of life with Alzheimer’s disease severity and disease progression in community-dwelling patients in Germany, Spain,...
Article
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Background Progressive cognitive decline is the most relevant clinical symptom of Alzheimer’s disease (AD). However, the rate of cognitive decline is highly variable between patients. Synaptic deficits are the neuropathological event most correlated with cognitive impairment in AD. Considering the important role of microRNAs (miRNAs) in regulating...
Article
Full-text available
There is evidence longitudinal atrophy in posterior brain areas in early-onset Alzheimer’s disease (EOAD; aged<65years), but no studies have been conducted in an EOAD cohort with fluid biomarkers characterization. We used 3T-MRI and Freesurfer 6.0 to investigate cortical and subcortical gray matter loss at two years in 12 EOAD patients (A+T+N+) com...
Article
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Importance The presence of atrophy on magnetic resonance imaging can support the diagnosis of the behavioral variant of frontotemporal dementia (bvFTD), but reproducible measurements are lacking. Objective To assess the diagnostic and prognostic utility of 6 visual atrophy scales (VAS) and the Magnetic Resonance Parkinsonism Index (MRPI). Design,...
Article
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Introduction: Biological sex is an increasingly recognized factor driving clinical and structural heterogeneity in Alzheimer's disease, but its role in the behavioral variant of frontotemporal dementia (bvFTD) is unknown. Methods: We included 216 patients with bvFTD and 235 controls with magnetic resonance imaging (MRI) from a large multicenter...
Article
Full-text available
Cognitive impairment and behavioral changes in amyotrophic lateral sclerosis (ALS) are now recognized as part of the disease. Whether it is solely related to the extent of TDP-43 pathology is currently unclear. We aim to evaluate the influence of age, genetics, neuropathological features, and concomitant pathologies on cognitive impairment in ALS p...
Article
Full-text available
Neuroinflammation is a risk factor for Alzheimer’s disease (AD). We sought to study the glial derangement in AD using diverse experimental models and human brain tissue. Besides classical pro-inflammatory cytokines, we analyzed chitinase 3 like 1 (CHI3L1 or YKL40) and triggering receptor expressed on myeloid cells 2 (TREM2) that are increasingly be...
Preprint
Full-text available
Background: Progressive cognitive decline is the most relevant clinical symptom of Alzheimer’s disease (AD). However, the rate of cognitive decline is highly variable between patients. Synaptic deficits are the neuropathological event most correlated with cognitive impairment in AD. Considering the important role of microRNAs (miRNAs) in regulating...
Article
Background Early‐onset dementia (EOD; <65 years) raises both diagnostic and social/health care challenges. Services for dementia are often designed for the elderly and might have difficulties supplying EOD needs. Clinical and epidemiological data are needed for care planning. Method We aim to describe the demographic and the clinical characteristi...
Article
Background ABCA7 gene (ATP‐binding cassette transporter A7) loss‐of‐function mutations are related to increased risk of suffering Alzheimer’s disease (AD). On the other hand, mutations in GRN (Progranulin) gene are causative of frontotemporal dementia (FTD). Methods The proband was a patient diagnosed from semantic variant of primary progressive a...
Article
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 Alzheimer’s disease (LOAD). Our aim was to describe and compare the neuropsychological presentation at diagnosis and its pro...

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