A5036458637- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Amyotrophic Lateral Sclerosis Research
- Advanced Neuroimaging Techniques and Applications
- Prion Diseases and Protein Misfolding
- Cholinesterase and Neurodegenerative Diseases
- Neurological Disease Mechanisms and Treatments
- Neuroinflammation and Neurodegeneration Mechanisms
- Functional Brain Connectivity Studies
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Glaucoma and retinal disorders
- Genetics and Neurodevelopmental Disorders
- Neurobiology of Language and Bilingualism
- Health Systems, Economic Evaluations, Quality of Life
- Metabolism and Genetic Disorders
- Systemic Lupus Erythematosus Research
- Mental Health and Psychiatry
- Retinal Imaging and Analysis
- Tryptophan and brain disorders
- Corporate Taxation and Avoidance
- Poisoning and overdose treatments
- Mitochondrial Function and Pathology
University of Antwerp
2022
KU Leuven
2022
Hospitais da Universidade de Coimbra
1999-2022
Centro Hospitalar do Baixo Vouga
2022
University of Coimbra
2007-2020
Erasmus University Rotterdam
2020
London School of Hygiene & Tropical Medicine
2019
King's College London
2019
Centro de Neurociências e Biologia Celular
2016
Instituto Nacional de Toxicología y Ciencias Forenses
2016
<i>Background:</i> Several lines of evidence in the literature have shown that inflammation is involved pathogenesis Alzheimer’s disease (AD). However, results from evaluation serum inflammatory markers AD patients been controversial. <i>Objective:</i> To determine if any differences exist monocytic secretion pattern IL-1β, IL-6, IL-12 and TNF-α mild cognitive impairment (MCI) patients, when compared with healthy age-matched controls. <i>Methods:</i>...
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In present study, we analyzed SQSTM1 sequence mutations an extended cohort 1,808 patients frontotemporal lobar degeneration (FTLD), ascertained within European Early-Onset Dementia consortium. As control dataset, sequenced 1,625 individuals whole-exome data 2,274 German (total n = 3,899). Association rare was calculated a meta-analysis...
Pathological brain iron deposition has been implicated as a source of neurotoxic reactive oxygen species in Alzheimer (AD) and Parkinson diseases (PD). Iron metabolism is associated with the gene hemochromatosis (HFE Human genome nomenclature committee ID:4886), mutations HFE are cause mismetabolism disease, hemochromatosis. Several reports have tested association variants neurodegenerative diseases, such AD PD conflicting results.Genotypes were analysed for two most common series 130 AD, 55...
Despite having the same histopathological characteristics, early-onset and late-onset Alzheimer's disease (AD) patients show some distinct clinical neuropsychological profiles. Early Onset Mild Cognitive Impairment (EOMCI) is a less characterized group. The aim of this study to characterize MCI probably due AD in terms clinical, genetic, Cerebrospinal fluid (CSF) biomarkers profile conversion rate EOMCI, compared form (LOMCI).
Background Recently, two large genome wide association studies in Alzheimer disease (AD) have identified variants three different genes (CLU, PICALM and CR1) as being associated with the risk of developing AD. The strongest was reported for an intronic single nucleotide polymorphism (SNP) CLU. Methodology/Principal Findings To further characterize this we sequenced coding region gene a total 495 AD cases 330 healthy controls. A twenty-four were found both For changes more than one...
The I nternational W orking G roup on A lzheimer's disease ( AD ) suggested the free and cued selective reminding test FCSRT to assess memory, as it showed high sensitivity specificity in differentiation of from healthy controls other dementias. involves use with semantic cueing memory assessment. This study aims validate for mild cognitive impairment MCI through analysis diagnostic accuracy suggestion cut‐off scores. Patients were classified into two groups according standard criteria: n =...
Progranulin (PGRN) mutations are associated with different clinical phenotypes, including frontotemporal lobar degeneration (FTLD), corticobasal syndrome (CBS) and Alzheimer's disease (AD). As all pathogenic PGRN identified so far cause through haploinsufficiency, determination of levels has been proposed as a reliable method to identify mutation carriers.To evaluate the accuracy peripheral in identification carriers detected thus our Portuguese cohort.Serum were measured 244 subjects (124...
The blood redox status of probable Alzheimer's Disease (AD) patients and control subjects with distinct Apo E genotypes was investigated. It assessed by measuring the levels hydroperoxides (MDA) in plasma erythrocytes, antioxidant defense system (enzymatic non-enzymatic) plasma, platelets leukocytes, activities catechol-O-methyltransferase (COMT) erythrocytes monoamine oxidase-B (MAO-B) also activity mitochondrial respiratory chain leukocytes. No significant differences were found between...
Abstract Mutations in the progranulin ( PGRN ) gene were recently described as cause of ubiquitin positive frontotemporal dementia (FTD) many families. Different frequencies these genetic changes have been reported diverse populations leading us to determine if mutations a major FTD Portuguese population. The entire coding sequence plus exon 0 sequenced consecutive series 46 FTD/CBS patients. Two found: novel pathogenic insertion (p.Gln300GlnfsX61) and previously point variant (p.T182M)...
Amnestic mild cognitive impairment (aMCI) patients carry a greater risk of conversion to Alzheimer's disease (AD). Therefore, the International Working Group (IWG) on AD aims consider some cases aMCI as symptomatic prodromal AD. The core diagnostic marker is significant and progressive memory deficit, Free Cued Selective Reminding Test (FCSRT) was recommended by IWG test in possible This study investigate whether performance FCSRT would enhance ability predict an group. A longitudinal...
The Clock Drawing Test (CDT) has a known potential for the detection of cognitive impairment in populations with dementia, especially Alzheimer disease (AD). Our aim was to compare clinical utility 3 CDT scoring systems (Rouleau, Cahn, and Babins) several pathologies compromise from tertiary center memory clinic. We selected patients diagnosis mild stage AD, behavioral variant frontotemporal dementia (FTD), vascular (VaD), Lewy bodies (DLB), Parkinson (PDD). results showed significant...
The retina may serve as putative window into neuropathology of synaptic loss in Alzheimer’s disease (AD). Here, we investigated synapse-rich layers versus composed by nuclei/cell bodies an early stage AD. In addition, examined the associations between retinal changes and molecular structural markers cortical damage. We recruited 20 AD patients 17 healthy controls (HC). Combining optical coherence tomography (OCT), magnetic resonance (MR), positron emission (PET) imaging, measured primary...
This study aimed to understand the relationship between Clock Drawing Test (CDT) and decreased blood flow in mild cognitive impairment (MCI) patients, using single-photon emission computed tomography.We characterized regional cerebral (rCBF) correlation with clinical variables future conversion dementia 94 amnestic MCI patients. Blood perfusion data was correlated CDT (quantitative qualitative scores) order evaluate their usefulness predicting dementia.MCI patients displayed reduced rCBF...
The amyloid cascade hypothesis proposes amyloid-β (Aβ) as the earliest and key pathological hallmark of Alzheimer's disease (AD), but this mandatory "amyloid-first pathway" has been contested. Longitudinal studies mild cognitive impairment (MCI) patients represent an opportunity to investigate intensity underlying biological processes (amyloidosis versus neurodegeneration) their relevance for progression AD. We re-examined our cohort amnestic MCI, grouped according cerebrospinal fluid (CSF)...
This study aims to investigate the relationship between structural changes in retina and white matter brain, early Alzheimer's disease (AD). Twenty-three healthy controls (mean age = 63.4±7.5 years) seventeen AD patients 66.5±6.6 were recruited for this study. By combining two imaging techniques-optical coherence tomography diffusion tensor (DTI)-the association thickness of individual retinal layers dysfunction was assessed. Retinal segmented, measurements obtained each layer. DTI images...
Objectives: The aim of this study was to analyze the psychometric and diagnostic properties Clock Drawing Test (CDT), scored according Babins, Rouleau, Cahn scoring systems, for Mild Cognitive Impairment (MCI) Alzheimer's disease (AD) screening, develop corresponding cutoff scores. Additionally, we assessed construct validity CDT through exploratory confirmatory factor analysis.Methods: We developed a cross-sectional ambulatory MCI AD patients, divided in two clinical groups (450 250 mild...
<b><i>Background/Aims:</i></b> The head turning sign (HTS) is frequently noticed in clinical practice, but few studies have investigated its etiological and neuropsychological correlates. <b><i>Methods:</i></b> presence frequency of the HTS was operationalized prospectively evaluated patients with Alzheimer’s disease (AD), amnestic mild cognitive impairment (MCI), behavioral-variant frontotemporal dementia (bvFTD). Cerebrospinal fluid (CSF)...
The ATN scheme was proposed as an unbiased biological characterization of the Alzheimer's disease (AD) spectrum, grouping biomarkers into three categories: brain Amyloidosis-A, Tauopathy-T, Neurodegeneration-N. Although this mainly recommended for research, it is relevant diagnosis.To evaluate performance in real-life cohorts reflecting inflow patients with cognitive complaints and different underlying disorders general neurological centers.We included (n = 1,128) from six centers their core...