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Background: Behavioral variant frontotemporal dementia (bvFTD) has profound consequences on patients and their families. In this multicenter study, we investigated the contribution of cognitive and neuropsychiatric factors to everyday function at different levels of overall functional impairment. Methods: In a retrospective cross-sectional study, 109 patients with bvFTD from 4 specialist frontotemporal dementia centers (Australia, England, India, and Brazil) were included. The measures administered evaluated everyday function (Disability Assessment for Dementia [DAD]), dementia staging (Clinical Dementia Rating [CDR]), general cognition (Addenbrooke's Cognitive Examination-revised [ACE-R]), and neuropsychiatric symptoms (Neuropsychiatric Inventory [NPI]). Patients were then subdivided according to functional impairment on the DAD into mild, moderate, severe, and very severe subgroups. Three separate multiple linear regression analyses were run, where (1) total DAD, (2) basic activities of daily living (BADL), and (3) instrumental activities of daily living (IADL) scores were dependent variables; ACE-R total score and selected NPI domains (agitation/aggression, euphoria, apathy, disinhibition, irritability, aberrant motor behavior) were used as independent variables. Age, sex, education, and country of origin were controlled for in the analyses. Results: Cognitive deficits were similar across the mild, moderate, and severe subgroups but significantly worse in the very severe subgroup. NPI domain scores (agitation/aggression, euphoria, apathy, disinhibition, irritability, aberrant motor behavior) did not differ across the DAD subgroups. In the multiple regression analyses, a model including ACE-R and NPI apathy explained 32.5% of the variance for total DAD scores. For IADL, 35.6% of the variance was explained by the ACE-R only. No model emerged for BADL scores. Conclusions: Cognitive deficits and apathy are key contributors to functional disability in bvFTD but factors underlying impairment in BADLs remain unclear. Treatments targeting reduction of disability need to address apathy and cognitive impairment to ensure greater efficacy, especially in regards to IADLs.
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INTRODUCTION: Executive dysfunction is a common symptom in neurodegenerative disorders and is in need of easy-to-apply screening tools that might identify it. The aims of the present study were to examine some of the psychometric characteristics of the Brazilian version of the INECO frontal screening (IFS), and to investigate its accuracy to diagnose executive dysfunction in dementia and its accuracy to differentiate Alzheimer disease (AD) from the behavioral variant of frontotemporal dementia (bvFTD). METHODS: Patients diagnosed with bvFTD (n=18) and AD (n=20), and 15 healthy controls completed a neuropsychological battery, the Neuropsychiatric Inventory, the Cornell Scale for Depression in Dementia, the Clinical Dementia Rating, and the IFS. RESULTS: The IFS had acceptable internal consistency (α=0.714) and was significantly correlated with general cognitive measures and with neuropsychological tests. The IFS had adequate accuracy to differentiate patients with dementia from healthy controls (AUC=0.768, cutoff=19.75, sensitivity=0.80, specificity=0.63), but low accuracy to differentiate bvFTD from AD (AUC=0.594, cutoff=16.75, sensitivity=0.667, specificity=0.600). CONCLUSION: The present study suggested that the IFS may be used to screen for executive dysfunction in dementia. Nonetheless, it should be used with caution in the differential diagnosis between AD and bvFTD.
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Doença de Alzheimer/diagnóstico , Diagnóstico Diferencial , Demência Frontotemporal/diagnóstico , Programas de Rastreamento , Idoso , Brasil , Função Executiva , Feminino , Humanos , Masculino , Testes Neuropsicológicos/estatística & dados numéricos , Psicometria/normas , Sensibilidade e EspecificidadeRESUMO
INTRODUCTION: Few studies on instruments for staging frontotemporal dementia (FTD) have been conducted. OBJECTIVE: The objective of this study was to analyze the factor structure, internal consistency, reliability, and convergent validity of the Brazilian version of the Frontotemporal Dementia Rating Scale (FTD-FRS). METHODS: A total of 97 individuals aged 40 years and above with >2 years' education took part in the study, 31 patients diagnosed with behavioral variant FTD (bvFTD), 8 patients with primary progressive aphasia, 28 with Alzheimer disease, 8 with mild cognitive impairment, and a control group of 22 healthy subjects. The FTD-FRS was completed by family members or caregivers, and Neurologists completed the 8-item Clinical Dementia Rating for Frontotemporal Lobar Degeneration (CDR-FTLD) scale (6 original domains plus Language and Behavior). The Alzheimer disease and FTD patients had equivalent disease severity level. RESULTS: The internal consistency of the FTD-FRS, estimated by Cronbach α, was 0.975 whereas test-retest reliability was 0.977. Scree plot and exploratory factor (Varimax rotation) analyses revealed the existence of 4 factors, with eigenvalues >1, which together explained 77.13% of the total variance with values of 1.28 to 17.52. The domains of the Brazilian version of the FTD-FRS scale correlated with the domains of the CDR-FTLD. CONCLUSIONS: The present study is the first to document the factorial structure of the FTD-FRS and its convergent validity with the CDR-FTLD. These tools are key to determine dementia severity in FTD. The Brazilian FTD-FRS demonstrated adequate psychometric properties for use in Brazil. This instrument may contribute to disease staging in FTD and may help to document intervention-related changes.
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Progressão da Doença , Demência Frontotemporal/diagnóstico , Escalas de Graduação Psiquiátrica/normas , Psicometria/normas , Idoso , Doença de Alzheimer/diagnóstico , Afasia Primária Progressiva/diagnóstico , Brasil , Disfunção Cognitiva/diagnóstico , Estudos Transversais , Feminino , Humanos , Masculino , Testes de Estado Mental e Demência , Pessoa de Meia-Idade , Reprodutibilidade dos TestesRESUMO
BACKGROUND: Mutations in GRN (progranulin) and MAPT (microtubule-associated protein tau) are among the most frequent causes of monogenic frontotemporal dementia (FTD), but data on the frequency of these mutations in regions such as Latin America are still lacking. OBJECTIVE: We aimed to investigate the frequencies of GRN and MAPT mutations in FTD cohorts from 2 Brazilian dementia research centers, the University of Sao Paulo and the Federal University of Minas Gerais medical schools. METHODS: We included 76 probands diagnosed with behavioral-variant FTD (n=55), semantic-variant Primary Progressive Aphasia (PPA) (n=11), or nonfluent-variant PPA (n=10). Twenty-five percent of the cohort had at least 1 relative affected with FTD. RESULTS: Mutations in GRN were identified in 7 probands, and in MAPT, in 2 probands. We identified 3 novel GRN mutations (p.Q130X, p.317Afs*12, and p.K259Afs*23) in patients diagnosed with nonfluent-variant PPA or behavioral-variant FTD. Plasma progranulin levels were measured and a cutoff value of 70 ng/mL was found, with 100% sensitivity and specificity to detect null GRN mutations. CONCLUSIONS: The frequency of GRN mutations was 9.6% and that of MAPT mutations was 7.1%. Among familial cases of FTD, the frequency of GRN mutations was 31.5% and that of MAPT mutations was 10.5%.
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Demência Frontotemporal/genética , Peptídeos e Proteínas de Sinalização Intercelular/genética , Proteínas tau/genética , Idade de Início , Encéfalo/patologia , Brasil , Feminino , Demência Frontotemporal/diagnóstico por imagem , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Afasia Primária Progressiva não Fluente/diagnóstico por imagem , Afasia Primária Progressiva não Fluente/genética , ProgranulinasRESUMO
BACKGROUND: The prevalence of cognitive impairment is insufficiently determined in developing countries. The aim of this study was to ascertain the prevalence of cognitive impairment without dementia and dementia in community-dwelling elderly in Brazil. METHODS: This was a single-phase cross-sectional survey of the elderly (aged 60 years and above) living in the municipality of Tremembé, Brazil. Twenty percent of the households with elderly persons were randomly selected from urban and rural areas, to obtain a homogenous representation of all socioeconomic and cultural levels. RESULTS: We assessed 630 individuals [mean age, 71.3 y (±7.99); mean years of education, 4.9 (±4.54)] and found prevalence rates of 17.5% (95% confidence interval, 14.6-20.6) for dementia and 19.5% (95% confidence interval, 16.6-22.8) for cognitive impairment without dementia. These prevalence rates were influenced by age (P<0.001) and by educational level (P<0.001). There was no significant sex difference among diagnostic groups (P=0.166). The prevalence of dementia was higher in relatively younger individuals (below 70 y) when compared with other studies. Besides, dementia was associated with low socioeconomic status, stroke, previous psychiatric disorder, alcoholism, and epilepsy. CONCLUSIONS: The prevalence of dementia in this study was higher than in other studies, particularly among younger elderly.
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Disfunção Cognitiva/diagnóstico , Demência/diagnóstico , Testes Neuropsicológicos , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Disfunção Cognitiva/epidemiologia , Estudos Transversais , Demência/epidemiologia , Feminino , Humanos , Masculino , PrevalênciaRESUMO
Depression is a major growing public health problem. Many population studies have found a significant relationship between depression and the presence of cognitive disorders. OBJECTIVE: To establish the correlation between the Visual Analogue Scale of Happiness and the Cornell Scale for Depression in Dementia in the population aged 60 years or over in the city of Tremembé, state of São Paulo, Brazil. METHODS: An epidemiological survey involving home visits was carried out in the city of Tremembé. The sample was randomly selected by drawing 20% of the population aged 60 years or older from each of the city's census sectors. In this single-phase study, the assessment included clinical history, physical and neurological examination, cognitive evaluation, and application of both the Cornell Scale and the Analogue Scale of Happiness for psychiatric symptoms. The presence of depressive symptoms was defined as scores greater than or equal to 8 points on the Cornell Scale. RESULTS: A total of 623 subjects were evaluated and of these 251 (40.3%) had clinically significant depressive symptoms on the Cornell Scale, with a significant association with female gender (p<0.001) and with lower education (p=0.012). One hundred and thirty-six participants (21.8%) chose the unhappiness faces, with a significant association with age (p<0.001), female gender (p=0.020) and low socioeconomic status (p=0.012). Although there was a statistically significant association on the correlation test, the correlation was not high (rho=0.47). CONCLUSION: The prevalence of depressive symptoms was high in this sample and the Visual Analogue Scale of Happiness and Cornell Scale for Depression in Dementia should not be used as similar alternatives for evaluating the presence of depressive symptoms, at least in populations with low educational level.
A depressão é um problema importante e crescente de saúde pública. É muito comum ser encontrada uma relação significativa entre depressão e a presença de distúrbios cognitivos nos estudos populacionais. OBJETIVO: Estabelecer a correlação entre a Escala Analógica Visual de Felicidade e a Escala Cornell de Depressão em Demência na população de 60 anos ou mais da cidade de Tremembé, estado de São Paulo, Brasil. MÉTODOS: Estudo epidemiológico no qual foram realizadas visitas domiciliares na cidade de Tremembé. A amostra foi aleatória, através do sorteio de 20% da população acima de 60 anos de cada setor censitário do município. Este estudo foi de fase única, tendo sido realizada anamnese, exames físico e neurológico, avaliação cognitiva e aplicação de escalas Cornell de Depressão em Demência e Escala Analógica de Felicidade para verificar a presença de sintomas depressivos. Foi adotado como critério da presença de sintomas depressivos, pontuação maior ou igual a 8 na escala de Cornell. RESULTADOS: Foram avaliadas 623 pessoas e destas 251 (40,3%) apresentaram sintomas depressivos significativos clinicamente na escala de Cornell, com associação significativa com gênero feminino (p<0,001) e com a baixa escolaridade (p=0,012). Cento e trinta e seis participantes (21,8%) apontaram para faces de infelicidade, com associação significativa com idade (p<0,001), com gênero feminino (p=0,020) e com baixo nível socioeconômico (p=0,012). Embora tenha havido significância estatística no teste de correlação, a correlação entre as duas escalas analisadas não foi alta (rho=0,47). CONCLUSÃO: A prevalência de sintomas depressivos foi elevada nesta amostra e a Escala Analógica de Felicidade e a Escala Cornell de Depressão em Demência não devem ser utilizadas como alternativas similares para avaliar a presença de sintomas depressivos, pelo menos em populações com baixa escolaridade.
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Depression is a heterogeneous mental disease classified as a set of disorders, which manifest with a certain duration, frequency and intensity. The prevalence of depression in the elderly ranges from 0.5 to 16%. OBJECTIVE: To establish, in an epidemiological study, the prevalence of significant depressive symptoms in the population aged 60 years or older. METHODS: Results of a cross-sectional epidemiological study, involving home visits, being carried out in the city of Tremembé, Brazil, were reported. The sample was randomly selected by drawing 20% of the population over 60 years from each of the city's census sectors. In this single-phase study, the assessment included clinical history, physical and neurological examination, cognitive evaluation, the Cornell scale and the Patient Health Questionnaire for psychiatric symptoms. Scores greater than or equal to 8 on the Cornell scale were taken to indicate the presence of depressive symptoms. RESULTS: A total of 455 elders were assessed, and of these 169 (37.1%) had clinically significant depressive symptoms (CSDS). Depression prevalence was higher among women (p<0.001) and individuals with lower education (p=0.033). The Chi-square test for trends showed a significant relationship where lower socioeconomic status was associated with greater likelihood of depressive symptoms (p=0.005). CONCLUSION: The prevalence of depressive symptoms was high in this sample of the population-based study and was associated with female gender, low educational level and socioeconomic status. The assessment of the entire population sample must be completed.
Depressão é uma doença mental heterogênea classificada como um conjunto de transtornos, que se manifestam numa certa duração, frequência e intensidade. A prevalência de depressão em idosos varia de 0,5 a 16%. OBJETIVO: estabelecer a prevalência de sintomas depressivos significantes em estudo epidemiológico em população acima de 60 anos. MÉTODOS: Estudo epidemiológico do tipo transversal, no qual estão sendo realizadas visitas domiciliares na cidade de Tremembé, Brasil. A amostra foi aleatória, através do sorteio de 20% da população acima de 60 anos de cada setor censitário do município. Este estudo é de única fase, sendo realizada anamnese, exames físico e neurológico, avaliação cognitiva e aplicação de escalas de Cornell e questionário Patient Health Questionnaire para verificar sintomas psiquiátricos. Foi adotado como critério da presença de sintomas depressivos, pontuação maior ou igual a 8 na escala de Cornell. RESULTADOS: Foram avaliadas 455 pessoas e destas 169 (37,1%) apresentaram sintomas depressivos significativos clinicamente (SDSC). A maior prevalência foi entre as mulheres (p<0,001) e com escolaridade mais baixa (p=0,033). Quando realizado o teste de qui-quadrado de tendência, houve relação significativa, à medida que diminui o nível socioeconômico, aumenta a chance da presença de sintomas depressivos (p=0,005). CONCLUSÃO: A prevalência de sintomas depressivos foi elevada nesta amostra do estudo populacional e com associação com gênero feminino, baixo nível educacional e socioeconômico, mas há necessidade de finalizar toda amostragem.
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In 2005, the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology published recommendations for the diagnosis of Alzheimer's disease These recommendations were updated following a review of evidence retrieved from national and international studies held on PUBMED, SCIELO and LILACS medical databases. The main aims of this review article are as follows: 1) to present the evidence found on Brazilian (LILACS, SCIELO) and International (MEDLINE) databases from articles published up to May 2011, on the differential diagnosis of these psychiatric disorders and dementia, with special focus on Dementia due to Alzheimer's and vascular dementia, including a review of supplementary exams which may facilitate the diagnostic process; and 2) to propose recommendations for use by clinicians and researchers involved in diagnosing patients with dementia. Differential diagnosis between dementia and other neuropsychiatric disorders should always include assessments for depression, delirium, and use of psychoactive substances, as well as investigate the use of benzodiazepines, anti-epileptics and pattern of alcohol consumption.
Em 2005, o Departamento Científico de Neurologia Cognitiva e do Envelhecimento da ABN publicou as recomendações para o diagnóstico da Doença de Alzheimer. Essas recomendações foram revisadas através de buscas em bases de dados PUBMED, SCIELO e LILACS, buscando evidências nacionais e internacionais sobre esses temas. Este artigo de revisão tem como objetivos: 1) apresentar as evidências encontradas em bases de dados brasileiras (LILACS, SCIELO) e internacionais (MEDLINE), até maio de 2011, sobre o diagnóstico diferencial desses transtornos psiquiátricos com demência, tendo como foco especial a demência de Alzheimer e a demência vascular, incluindo os exames complementares que podem auxiliar neste processo diagnóstico; e 2) propor recomendações que podem ser úteis a clínicos e pesquisadores envolvidos com o diagnóstico de pacientes com demência. O diagnóstico diferencial entre demência e outros transtornos neuropsiquiátricos deve sempre incluir a avaliação de depressão, delirium, e o uso de substâncias psicoativas, tais como benzodiazepínicos, antiepilépticos e o padrão de consumo de bebidas alcoólicas.
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Humanos , Demência , Depressão , Etanol , Doença de AlzheimerRESUMO
Em 2005, o Departamento Científico de Neurologia Cognitiva e do Envelhecimento da ABN publicou as Recomendações para o Diagnóstico da Doença de Alzheimer. Essas recomendações foram revisadas através de buscas em bases de dados PUBMED, SCIELO e LILACS, buscando evidências nacionais e internacionais sobre esses temas. Este artigo de revisão tem como objetivos: (1) apresentar as evidências encontradas em bases de dados brasileiras (LILACS, SCIELO) e internacionais (MEDLINE), até maio de 2011, sobre o diagnóstico diferencial desses transtornos psiquiátricos com demência, tendo como foco especial a demência de Alzheimer (DA) e a demência vascular (DV), incluindo os exames complementares que podem auxiliar neste processo diagnóstico; e (2) propor recomendações que podem ser úteis a clínicos e pesquisadores envolvidos com o diagnóstico de pacientes com demência. O diagnóstico diferencial entre demência e outros transtornos neuropsiquiátricos deve sempre incluir a avaliação de depressão, delirium, e o uso de substâncias psicoativas, tais como benzodiazepínicos, antiepilépticos e o padrão de consumo de bebidas alcoólicas. Os critérios diagnósticos atuais para demência exigem a exclusão de outros transtornos neuropsiquiátricos maiores, porém não estão disponíveis exames complementares que possam, com segurança, auxiliar de maneira definitiva nesse diagnóstico diferencial. A avaliação clínica cuidadosa e a utilização de instrumentos de rastreio já validados no Brasil podem melhorar a efetividade do clínico e do pesquisador no diagnóstico diferencial de demência e outros transtornos psiquiátricos.
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Humanos , Brasil , Guias como Assunto , Transtornos Relacionados ao Uso de Substâncias , Demência , Consenso , Depressão , Etanol , Doença de AlzheimerRESUMO
In 2005, the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology published recommendations for the diagnosis of Alzheimer's disease These recommendations were updated following a review of evidence retrieved from national and international studies held on PUBMED, SCIELO and LILACS medical databases. The main aims of this review article are as follows: 1) to present the evidence found on Brazilian (LILACS, SCIELO) and International (MEDLINE) databases from articles published up to May 2011, on the differential diagnosis of these psychiatric disorders and dementia, with special focus on Dementia due to Alzheimer's and vascular dementia, including a review of supplementary exams which may facilitate the diagnostic process; and2) to propose recommendations for use by clinicians and researchers involved in diagnosing patients with dementia. Differential diagnosis between dementia and other neuropsychiatric disorders should always include assessments for depression, delirium, and use of psychoactive substances, as well as investigate the use of benzodiazepines, anti-epileptics and pattern of alcohol consumption.
Em 2005, o Departamento Científico de Neurologia Cognitiva e do Envelhecimento da ABN publicou as recomendações para o diagnóstico da Doença de Alzheimer. Essas recomendações foram revisadas através de buscas em bases de dados PUBMED, SCIELO e LILACS, buscando evidências nacionais e internacionais sobre esses temas. Este artigo de revisão tem como objetivos:1) apresentar as evidências encontradas em bases de dados brasileiras (LILACS, SCIELO) e internacionais (MEDLINE), até maio de 2011, sobre o diagnóstico diferencial desses transtornos psiquiátricos com demência, tendo como foco especial a demência de Alzheimer e a demência vascular, incluindo os exames complementares que podem auxiliar neste processo diagnóstico; e2) propor recomendações que podem ser úteis a clínicos e pesquisadores envolvidos com o diagnóstico de pacientes com demência.O diagnóstico diferencial entre demência e outros transtornos neuropsiquiátricos deve sempre incluir a avaliação de depressão, delirium, e o uso de substâncias psicoativas, tais como benzodiazepínicos, antiepilépticos e o padrão de consumo de bebidas alcoólicas.
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The presence of the epsilon4 allele of apolipoprotein E (APOE) is considered a risk factor for sporadic Alzheimer's disease (AD). Our recent data demonstrated that the systemic modulation of oxidative stress in platelets and erythrocytes is disrupted in aging and AD. In this study, the relationship between APOE genotype and oxidative stress markers, both in AD patients and controls, was evaluated. The AD group showed an increase in the content of thiobarbituric acid-reactive substances (TBARS) and in the activities of nitric oxide synthase (NOS) and Na, K-ATPase, when compared to controls. Both groups had a similar cGMP content and superoxide dismutase activity. APOE epsilon4 allele carriers showed higher NOS activity than non-carriers. These results suggest a possible influence of APOE genotype on nitric oxide (NO) production that might enhance the effects of age-related specific factor(s) associated with neurodegenerative disorders.
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Apolipoproteínas E/genética , Plaquetas/metabolismo , Óxido Nítrico/metabolismo , Alelos , Doença de Alzheimer/sangue , Doença de Alzheimer/genética , Doença de Alzheimer/patologia , Apolipoproteína E4/genética , Eritrócitos/metabolismo , Genótipo , Humanos , Óxido Nítrico Sintase/genética , Estresse Oxidativo , Fatores de Risco , ATPase Trocadora de Sódio-Potássio/metabolismo , Substâncias Reativas com Ácido Tiobarbitúrico/metabolismoRESUMO
Different studies have attempted to find polymorphisms involved in the serotonergic pathway that could be involved in mood disorders and late-onset Alzheimer's disease (LOAD) symptoms. Here, we compared the frequency of two polymorphisms: monoamine oxidase A (MAOA) and serotonin transporter in LOAD patients versus controls. No evidence of association was observed when these polymorphisms were compared separately; however, the combination of the MAOA allele 1+the short allele of 5-HTTLPR+ApoE-epsilon4 was significantly more frequent in patients than in controls. It reinforces the hypothesis that different genes acting together might play a role in AD susceptibility. Based on these data, we suggest replicating these studies in larger samples of LOAD patients belonging to different ethnic groups.
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Doença de Alzheimer/enzimologia , Doença de Alzheimer/genética , Monoaminoxidase/genética , Polimorfismo Genético , Idoso , Doença de Alzheimer/fisiopatologia , Apolipoproteínas E/genética , Brasil , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Proteínas da Membrana Plasmática de Transporte de Serotonina/genéticaRESUMO
BACKGROUND: The influence of dementia on mortality has not yet been reported for a Latin American country. OBJECTIVES: To evaluate the influence of dementia on mortality of a community-dwelling elderly population in Brazil, and to verify the extent to which the diagnosis of dementia is reported on death certificates. METHODS: A cohort of 1,656 individuals, aged 65 and over, was screened for dementia at their domiciles, in 1997. The same population was re-evaluated in 2000, and information on deaths was obtained from relatives and from the municipal obituary service. Kaplan-Meier curves were used for the survival analysis, and the mortality risk ratio (MMR) was calculated using Cox proportional hazards models. RESULTS: We obtained data from 1,393 subjects, corresponding to 84.1% of the target population. The number of deaths was 58 (51.3%) among the patients with dementia and 163 (12.7%) among those without dementia in 1997 (p <0.0001). Dementia and Alzheimer's disease (AD) decreased survival, with hazards ratios of 5.16 [95% Confidence Interval (CI): 3.74-7.12] for dementia and 4.76 (95% CI: 3.16-7.18) for AD. The Cox proportional hazards model identified dementia (MMR=3.92, 95% CI: 2.80-5.48) as the most significant predictor of death, followed by age, history of stroke, complaints of visual impairment and heart failure and by severe arterial hypertension in the baseline evaluation. Dementia and/or AD were mentioned in only 12.5% of the death certificates of individuals with dementia. CONCLUSIONS: Dementia causes a significant decrease in survival, and the diagnosis of dementia is rarely reported on death certificates in Brazil.
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Demência/mortalidade , Atividades Cotidianas , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/mortalidade , Brasil/epidemiologia , Causas de Morte , Comorbidade , Atestado de Óbito , Métodos Epidemiológicos , Feminino , Avaliação Geriátrica/métodos , Humanos , MasculinoRESUMO
After the identification of the apolipoprotein E gene isoform (APOE-epsilon4) as a risk factor for late-onset Alzheimer's disease (LOAD), the search for other polymorphisms associated with AD has been undertaken by many groups of investigators around the world. These studies have shown controversial results in many populations. More recently, a single nucleotide polymorphism in the promoter region of the brain-derived neurotrophin factor (BDNF) was found to be a risk factor for AD in two independent population studies. Here we report the analysis of this polymorphism in a group of 188 LOAD Brazilian patients compared to matched normal controls. A strong association between the APOE-epsilon4 polymorphism and LOAD was observed, but there was no significant association between this BNDF polymorphism and affected patients. The possibility that other polymorphisms or mutations in this gene play a role in the development of AD cannot be ruled out. However, the results of the present study suggest that in opposition to the two reported studies, this polymorphism does not seem to be implicated in LOAD Brazilian patients. It also shows the importance of replication studies in different populations, as susceptibility loci might differ in different ethnic groups; this will have important implications in future treatments with pharmacological agents.
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Doença de Alzheimer/genética , Doença de Alzheimer/metabolismo , Química Encefálica/genética , Fator Neurotrófico Derivado do Encéfalo/genética , Predisposição Genética para Doença/genética , Polimorfismo Genético/genética , Idoso , Doença de Alzheimer/etnologia , Apolipoproteína E4 , Apolipoproteínas E/genética , Encéfalo/metabolismo , Encéfalo/fisiopatologia , Brasil , Análise Mutacional de DNA , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Regiões Promotoras Genéticas/genética , Reprodutibilidade dos Testes , População Branca/genéticaRESUMO
OBJECTIVES: To verify the diagnostic accuracy of the Brazilian version of the Mattis Dementia Rating Scale (DRS) in the diagnosis of patients with mild dementia in Alzheimer's disease (AD); to verify the interference of the variables age and schooling on the performance of the DRS. METHOD: The DRS was administered to 41 patients with mild AD and to 60 controls. In order to analyze the effects of age and schooling on the performance of the tests, patients and controls were separated into three age groups and three levels of schooling. RESULTS: The cutoff score of 122 showed a sensitivity of 91.7 % and specificity of 87.8 %. Age and schooling interfered in the DRS total score and in the scores of its subscales. CONCLUSION: The DRS showed good diagnostic accuracy in the discrimination of patients with mild AD from the control individuals. In the sample examined, the effects of schooling were more marked than age.
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Doença de Alzheimer/diagnóstico , Demência/diagnóstico , Escalas de Graduação Psiquiátrica/normas , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Brasil , Estudos de Casos e Controles , Comparação Transcultural , Escolaridade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
OBJECTIVES: To verify the diagnostic accuracy of the Brazilian version of the Mattis Dementia Rating Scale (DRS) in the diagnosis of patients with mild dementia in Alzheimer's disease (AD); to verify the interference of the variables age and schooling on the performance of the DRS. METHOD: The DRS was administered to 41 patients with mild AD and to 60 controls. In order to analyze the effects of age and schooling on the performance of the tests, patients and controls were separated into three age groups and three levels of schooling. RESULTS: The cutoff score of 122 showed a sensitivity of 91.7 percent and specificity of 87.8 percent. Age and schooling interfered in the DRS total score and in the scores of its subscales. CONCLUSION: The DRS showed good diagnostic accuracy in the discrimination of patients with mild AD from the control individuals. In the sample examined, the effects of schooling were more marked than age
Assuntos
Idoso , Pessoa de Meia-Idade , Feminino , Humanos , Doença de Alzheimer , Demência , Escalas de Graduação Psiquiátrica , Fatores Etários , Idoso de 80 Anos ou mais , Brasil , Estudos de Casos e Controles , Comparação Transcultural , Escolaridade , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
OBJETIVO: analisar as características clínicas e as condiçöes mórbidas (CM) associados em uma amostra de pacientes com demência vascular (DV). MÉTODOS: foram estudados retrospectivamente 25 pacientes com diagnóstico de DV, estabelecidos com base critérios do grupo State of California Alzheimer's Disease Diagnostic and Treatment Centers (ADDTC). Os dados clínicos e de neuroimagem e os exames laboratoriais foram computados para caracterizaçäo da amostra. RESULTADOS: a média da faixa etária foi de 68,7 + ou - 14,6 anos (64,0 por cento homens), com escolaridade média de 5,2 + ou - 4,4 anos. A instalaçäo súbita do quadro foi observada em 48,0 por cento dos pacientes e a evoluçäo em degraus e o curso flutuante, em 4,0 por cento e 16,0 por cento dos casos, respectivamente. Apresentavam déficit neurológico focal como sintoma inicial 48,0 por cento, sendo constatado déficit ao exame em 80,0 por cento. As principais CM foram: hipertensäo arterial sistêmica (92,0 por cento); hipercolesterolemia (64,0 por cento); insuficiência coronariana (40,0 por cento); tabagismo (40,0 por cento); hipertrigliceridemia (36,0 por cento); diabete melito (32,0 por cento); doença de Chagas (8,0 por cento). CONCLUSÖES: observou-se forte correlaçäo entre DV e hipertensäo e hipercolesterolemia. A presença de dois pacientes com doença de Chagas sugere que esta doença possa constituir possível fator de risco regional
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Demência Vascular/fisiopatologia , Idoso de 80 Anos ou mais , Assistência Ambulatorial , Comorbidade , Demência Vascular/epidemiologia , Estudos Retrospectivos , Fatores de RiscoRESUMO
A hipertermia maligna caracteriza-se por hipertermia, rigidez muscular, rabdomiólise, acidose e insuficiência de múltiplos órgaos. A hipertermia maligna anestésica decorre da exposiçao a halogenados e/ou relaxantes musculares despolarizantes. O método padrao para diagnosticar a suscetibilidade à hipertermia maligna é o teste da contratura muscular in vitro em resposta ao halotano e à cafeína. A síndrome maligna por neurolépticos caracteriza-se por hipertermia, síndrome extrapiramidal, acidose, instabilidade neurovegetativa e alteraçoes neurológicas. Descrevemos três pacientes com síndrome maligna por neurolépticos e testes de contratura muscular positivos. Esse achado demonstra que ocasionalmente o músculo de pacientes com síndrome maligna por neurolépticos pode mostrar as alteraçoes encontradas na hipertermia maligna anestésica