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Comparison of four verbal memory tests for the diagnosis and predictive value o...
Silva, Dina; Guerreiro, Manuela; Maroco, João; Santana, Isabel; Rodrigues, Ana; Marques, José Bravo; Mendonça, Alexandre deBackground: Mild cognitive impairment (MCI) is considered to be an early stage of a neurodegenerative disorder, particularly Alzheimer’s disease, and the clinical diagnosis requires the objective demonstration of cognitive deficits. The aim of the present study was to evaluate the predictive value of MCI for the conversion to dementia when using four different verbal memory tests (Logical Memory, LM; California...
Data mining methods in the prediction of dementia: A real-data comparison of th...
Maroco, João; Silva, Dina; Rodrigues, Ana; Guerreiro, Manuela; Santana, Isabel; Mendonça, Alexandre deBackground: Dementia and cognitive impairment associated with aging are a major medical and social concern. Neuropsychological testing is a key element in the diagnostic procedures of Mild Cognitive Impairment (MCI), but has presently a limited value in the prediction of progression to dementia. We advance the hypothesis that newer statistical classification methods derived from data mining and machine learning...
Genetic Variability in CLU and Its Association with Alzheimer's Disease
Guerreiro, Rita J.; Beck, John; Gibbs, J. Raphael; Santana, Isabel; Rossor, Martin N.; Schott, Jonathan M.; Nalls, Michael A.; Ribeiro, HelenaRecently, two large genome wide association studies in Alzheimer disease (AD) have identified variants in three different genes (CLU, PICALM and CR1) as being associated with the risk of developing AD. The strongest association was reported for an intronic single nucleotide polymorphism (SNP) in CLU. To further characterize this association we have sequenced the coding region of this gene in a total of 495 A...
Genetic screening of Alzheimer's disease genes in Iberian and African samples y...
Guerreiro, Rita João; Baquero, Miquel; Blesa, Rafael; Boada, Mercè; Brás, José Miguel; Bullido, Maria. J.; Calado, Ana; Crook, Richard; Ferreira, CarlaMutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65years) Alzheimer’s disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early onset AD (mean age at onset of 52.9 years; range 31– 64). We found t...
Adaptive visual memory reorganization in right medial temporal lobe epilepsy
Figueiredo, Patrícia; Santana, Isabel; Teixeira, João; Cunha, Catarina; Machado, Egídeo; Sales, Francisco; Almeida, Eduarda; Castelo-Branco, MiguelPurpose: We investigated functional reorganization mechanisms of the human medial temporal lobe (MTL) for episodic memory, in patients suffering from medial temporal lobe epilepsy (MTLE) with hippocampal sclerosis (HS). Methods: We used functional magnetic resonance imaging (fMRI) to measure brain activity changes during matched episodic encoding tasks of abstract words (Verbal) and line drawings (Visual), in p...
Association of HFE common mutations with Parkinson's disease, Alzheimer's disea...
Guerreiro, Rita J.; Brás, José M.; Santana, Isabel; Januário, Cristina; Santiago, Beatriz; Morgadinho, Ana S.; Ribeiro, Maria H.; Hardy, JohnBackground: 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), and mutations in HFE are a cause of the iron mismetabolism disease, hemochromatosis. Several reports have tested the association of HFE var...
Frontotemporal dementia and mitochondrial DNA transitions
Grazina, Manuela; Silva, Filipe; Santana, Isabel; Santiago, Beatriz; Mendes, Cândida; Simões, Marta; Oliveira, Miguel; Cunha, Luís; Oliveira, CatarinaFrontotemporal dementia (FTD) is the second most common type of primary degenerative dementia. Some patients present an overlap between Alzheimer's disease (AD) and FTD both in neuropathological and clinical aspects. This may suggest a similar overlap in physiopathology, namely an involvement of mitochondrial DNA (mtDNA) in FTD, as it has been associated to AD. To determine if mtDNA is involved in FTD, we perfo...
Mitochondria dysfunction of Alzheimer's disease cybrids enhances Aβ toxicity
Cardoso, Sandra M.; Santana, Isabel; Swerdlow, Russell H.; Oliveira, Catarina R.Alzheimer's disease (AD) brain reveals high rates of oxygen consumption and oxidative stress, altered antioxidant defences, increased oxidized polyunsaturated fatty acids, and elevated transition metal ions. Mitochondrial dysfunction in AD is perhaps relevant to these observations, as such may contribute to neurodegenerative cell death through the formation of reactive oxygen species (ROS) and the release of mo...
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