Browsing by Author "Costa, S"
Now showing 1 - 7 of 7
Results Per Page
Sort Options
- Comparison of 2 diagnostic criteria for the behavioral variant of frontotemporal dementiaPublication . Costa, S; Suárez-Calvet, M; Antón, S; Dols-Icardo, O; Clarimón, J; Alcolea, D; Fortea, J; Carmona, M; Sala, I; Sánchez-Saudinós, MB; Blesa, R; Lleó, AOBJECTIVES: The aim of this study was to compare the applicability of the 1998 consensus diagnostic criteria for the behavioral variant of frontotemporal dementia (bvFTD) with the recently proposed diagnostic criteria of the International bvFTD Criteria Consortium (FTDC). METHODS: We reviewed each individual item in the 1998 and FTDC criteria in 30 patients with bvFTD followed in a memory clinic (including 2 with the C9orf72 gene repeat expansion). RESULTS: All patients fulfilled the FTDC criteria (40% possible, 60% probable bvFTD) but only 66.7% fulfilled the 1998 criteria. One of the C9orf72 expansion carriers did not fulfill the 1998 criteria. This discordance was always due to the presence of exclusion features in the 1998 criteria, the most common being spatial disorientation and early severe amnesia. CONCLUSION: The new FTDC criteria are less restrictive and hence more sensitive for the diagnosis of bvFTD.
- Crosstalk between genetics, gene expression and biochemical markers supports systemic iron homeostasis dysregulation in alzheimer diseasePublication . Crespo, A; Silva, B; Ferreira, C; Marquesa, L; Marcelino, E; Maruta, C; Costa, S; Timóteo, A; Vilares, A; Couto, F; Faustino, P; Correia, AP; Verdelho, A; Porto, G; Guerreiro, M; Herrero Valverde, A; Costa, C; Mendonça, A; Costa, L; Martins, M
- Decrease in APP and CP mRNA expression supports impairment of iron export in Alzheimer's disease patientsPublication . Guerreiro, C; Silva, B; Crespo, A; Marques, L; Costa, S; Timóteo, A; Marcelino, E; Maruta, C; Vilares, A; Matos, M; Couto, F; Faustino, P; Verdelho, A; Guerreiro, M; Herrero Valverde, A; Costa, C; Mendonça, A; Martins, M; Costa, LAlzheimer's disease (AD) is a neurodegenerative disorder of still unknown etiology and the leading cause of dementia worldwide. Besides its main neuropathological hallmarks, a dysfunctional homeostasis of transition metals has been reported to play a pivotal role in the pathogenesis of this disease. Dysregulation of iron (Fe) metabolism in AD has been suggested, particularly at the level of cellular iron efflux. Herein, we intended to further clarify the molecular mechanisms underlying Fe homeostasis in AD. In order to achieve this goal, the expression of specific Fe metabolism-related genes directly involved in Fe regulation and export was assessed in peripheral blood mononuclear cells (PBMCs) from 73AD patients and 74 controls by quantitative PCR. The results obtained showed a significant decrease in the expression of aconitase 1 (ACO1; P=0.007); ceruloplasmin (CP; P<0.001) and amyloid-beta precursor protein (APP; P=0.006) genes in AD patients compared with healthy volunteers. These observations point out to a significant downregulation in the expression of genes associated with ferroportin-mediated cellular Fe export in PBMCs from AD patients, when compared to controls. Taken together, these findings support previous studies suggesting impairment of Fe homeostasis in AD, which may lead to cellular Fe retention and oxidative stress, a typical feature of this disease.
- Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulationPublication . Crespo, A; Silva, B; Marques, L; Marcelino, E; Maruta, C; Costa, S; Timóteo, A; Vilares, A; Couto, F; Faustino, P; Correia, AP; Verdelho, A; Porto, G; Guerreiro, M; Herrero Valverde, A; Costa, C; Mendonça, A; Costa, L; Martins, MAlzheimer's disease (AD) is the most common form of dementia in the elderly individuals, resulting from a complex interaction between environmental and genetic factors. Impaired brain iron homeostasis has been recognized as an important mechanism underlying the pathogenesis of this disease. Nevertheless, the knowledge gathered so far at the systemic level is clearly insufficient. Herein, we used an integrative approach to study iron metabolism in the periphery, at both genotypic and phenotypic levels, in a sample of 116 patients with AD and 89 healthy control subjects. To assess the potential impact of iron metabolism on the risk of developing AD, genetic analyses were performed along with the evaluation of the iron status profile in peripheral blood by biochemical and gene expression studies. The results obtained showed a significant decrease of serum iron, ferritin, and transferrin concentrations in patients compared with the control subjects. Also, a significant decrease of ferroportin (SLC40A1) and both transferrin receptors TFRC and TFR2 transcripts was found in peripheral blood mononuclear cells from patients. At the genetic level, significant associations with AD were found for single nucleotide polymorphisms in TF, TFR2, ACO1, and SLC40A1 genes. Apolipoprotein E gene, a well-known risk factor for AD, was also found significantly associated with the disease in this study. Taken together, we hypothesize that the alterations on systemic iron status observed in patients could reflect an iron homeostasis dysregulation, particularly in cellular iron efflux. The intracellular iron accumulation would lead to a rise in oxidative damage, contributing to AD pathophysiology.
- Polineuropatia craniana: uma série hospitalarPublication . Costa, S; Simões, V; Inácio, N; Herrero Valverde, AObjectivos: Caracterização clínica, etiológica e prognósti- ca das polineuropatias cranianas. Métodologia: Revisão dos processos clínicos dos doentes internados no serviço de neurologia de um hospital distrital de Janeiro/2003 a Dezembro/2007 com o diagnóstico de poli- neuropatia craniana. Resultados: Incluídos 11 doentes, 7 do sexo feminino e 4 do sexo masculino, média de idades de 50,6 +/- 17,9 anos. Sete doentes tiveram envolvimento de 2 nervos cranianos e 4 doentes envolvimento de 3 nervos. Os nervos envolvidos foram III, V, VI, VII, VIII, sendo os mais frequentemente afecta- dos o III e o VII, em 5 e 6 doentes respectivamente cada. Em 4 casos a instalação foi aguda e nos restantes subaguda. Em 9 dos doentes foi estabelecido diagnóstico definitivo: um linfo- ma leptomeníngeo não Hodgkin B de alto grau, três s. Tolosa- Hunt, um s. Ramsay-Hunt, duas meningites tuberculosas e duas borrelioses. Dois casos foram considerados idiopáticos. O doente com s. Ramsay-Hunt teve recuperação parcial com Valaciclovir, dos doentes com s. Tolosa-Hunt, dois apresenta- ram recorrência do quadro clínico após suspensão da cortico- terapia, nos restantes casos secundários houve remissão total da sintomatologia após terapêutica dirigida em 1 a 8 meses. Dos casos idiopáticos um remitiu espontaneamente e o outro após terapêutica com corticoides. Conclusões: Na nossa série a apresentação clínica foi pleo- mórfica, de predomínio motor e afectando exclusivamente movimentos oculares e mímica facial. A etiologia foi predomi- nantemente infecciosa / inflamatória. O prognóstico foi glo- balmente favorável, com melhoria/resolução completa dos sintomas apresentados.
- Rapidly progressive corticobasal degeneration syndrome.Publication . Herrero Valverde, A; Costa, S; Ginestal, R; Pimentel, J; Timóteo, AIntroduction: Corticobasal syndrome (CBS) has a heterogeneous clinical presentation with no specific pathologic substratum. Its accurate diagnosis is a challenge for neurologists; in order to establish CBS definitively, postmortem confirmation is required. Some clinical and radiological features can help to distinguish it from other neurodegenerative conditions, such as Creutzfeldt-Jakob disease (CJD). Clinical Case: A 74-year-old woman presented with language impairment, difficulty in walking and poor attentiveness that had begun 10 days before. Other symptoms, such as asymmetrical extra-pyramidal dysfunction, limb dystonia and ‘alien limb’ phenomena, were established over the next 2 months, with rapid progression. Death occurred 3 months after symptom onset. Laboratory results were normal. Initially, imaging only showed restricted diffusion with bilateral parieto-occipital gyri involvement on DWI-MRI, with unspecific EEG changes. An autopsy was performed. Brain neuropathology confirmed sporadic CJD (sCJD). Conclusions: CBS is a heterogeneous clinical syndrome whose differential diagnosis is extensive. CJD can occasionally present with clinical characteristics resembling CBS. MRI detection of abnormalities in some sequences (FLAIR, DWI), as previously reported, has high diagnostic utility for sCJD diagnosis – especially in early stages – when other tests can still appear normal. Abnormalities on DWI sequencing may not correlate with neuropathological findings, suggesting a functional basis to explain the changes found.
- Romboencefalite e abcessos cerebrais por listeria monocytogenes: um desafio clínicoPublication . Costa, S; Herrero Valverde, AA Listeria monocytogenes é um bacilo gram positivo, anaeróbio facultativo e responsável por envolvimento do sistema nervoso central em 30 a 55% dos casos. As manifestações mais frequentes são a meningite aguda e subaguda, seguida da bacteriémia, romboencefalite e abcessos cerebrais ou medulares. Apresentamos um caso clínico de uma romboencefalite e abcessos cerebrais por L. monocytogenes. Concluímos que é importante considerar sempre o diagnóstico de infecção por este agente em doentes imunossuprimidos e/ou com mais de 65 anos com envolvimento infratentorial do SNC ou meningite, devendo ser iniciada antibioterapia assim que possível. Todavia, perante a suspeita clínica deve ser feita a colheita de hemoculturas antes de iniciar o tratamento dado a sua elevada rentabilidade diagnóstica.