Rapidly Progressive Dementia: Prevalence and Causes in a Neurologic Unit of a Tertiary Hospital in Brazil.

BACKGROUND: Rapidly progressive dementia (RPD) is usually associated with Creutzfeldt-Jakob disease, a fatal condition. Current advances in the understanding of immune-mediated diseases allow the diagnosis of previously unrecognized treatable RPDs. OBJECTIVE OF THE STUDY: The objective of the study was to describe the prevalence and causes of RPD in a neurology service, identifying potentially reversible causes. METHODS: We carried out a cross-sectional evaluation of all patients admitted to the neurology unit of a tertiary hospital in Brazil between March 2012 and February 2015. We included patients who had progressed to moderate or severe dementia within a few months or up to 2 years at the time of hospitalization, and used multivariable logistic regression analysis to identify factors associated with a favorable outcome. RESULTS: We identified 61 RPD (3.7%) cases among 1648 inpatients. Mean RPD patients' age was 48 years, and median time to progression was 6.4 months. Immune-mediated diseases represented the most commonly observed disease group in this series (45.9% of cases). Creutzfeldt-Jakob disease (11.5%) and nonprion neurodegenerative diseases (8.2%) were less common in this series. Outcome was favorable in 36/61 (59.0%) RPD cases and in 28/31 (89.3%) of immune-mediated cases. Favorable outcome was associated with shorter time from symptom onset to diagnosis and abnormal cerebrospinal fluid findings. CONCLUSIONS: Immune-mediated diseases were the most common cause of RPD in this series. Timely evaluation and diagnosis along with institution of appropriate therapy are required in RPD, especially in view of potentially reversible causes.

Substantia nigra fractional anisotropy is not a diagnostic biomarker of Parkinson's disease: A diagnostic performance study and meta-analysis.

OBJECTIVES: Our goal was to estimate the diagnostic accuracy of substantia nigra fractional anisotropy (SN-FA) for Parkinson's disease (PD) diagnosis in a sample similar to the clinical setting, including patients with essential tremor (ET) and healthy controls (HC). We also performed a systematic review and meta-analysis to estimate mean change in SN-FA induced by PD and its diagnostic accuracy. METHODS: Our sample consisted of 135 subjects: 72 PD, 21 ET and 42 HC. To address inter-scanner variability, two 3.0-T MRI scans were performed. MRI results of this sample were pooled into a meta-analysis that included 1,432 subjects (806 PD and 626 HC). A bivariate model was used to evaluate diagnostic accuracy measures. RESULTS: In our sample, we did not observe a significant effect of disease on SN-FA and it was uninformative for diagnosis. The results of the meta-analysis estimated a 0.03 decrease in mean SN-FA in PD relative to HC (CI: 0.01-0.05). However, the discriminatory capability of SN-FA to diagnose PD was low: pooled sensitivity and specificity were 72 % (CI: 68-75) and 63 % (CI: 58-70), respectively. There was high heterogeneity between studies (I2 = 91.9 %). CONCLUSIONS: SN-FA cannot be used as an isolated measure to diagnose PD. KEY POINTS: • SN-FA appears insufficiently sensitive and specific to diagnose PD. • Radiologists must be careful when translating mean group results to clinical practice. • Imaging protocol and analysis standardization is necessary for developing reproducible quantitative biomarkers.

Prevalence of Cognitive Impairment Without Dementia and Dementia in Tremembé, Brazil.

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.

Performance of the Visual Analogue Scale of Happiness and of the Cornell Scale for Depression in Dementia in the Tremembé Epidemiological Study, Brazil.

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.

Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)(123,) (CGG)(109), and (CGG)(91) triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a "definite" diagnosis of FXTAS in the two carriers of the longest (CGG)(n). The carrier of the (CGG)(91) allele, although presenting a major radiological sign of the syndrome (symmetrical white-matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age.

Performing functional magnetic resonance imaging in patients with Parkinson's disease treated with deep brain stimulation.

Deep brain stimulation (DBS) is a relatively novel treatment in advanced Parkinson's disease (PD). Functional magnetic resonance imaging (fMRI) is a useful technique for examining the effects of DBS both within the basal ganglia and its cortical connectivity. There are technical difficulties in imaging patients with PD, and the DBS itself can generate image artifacts. We describe aspects related to optimizing the fMRI acquisition parameters in patients with DBS and the results of sensorimotor activation tasks performed by four PD patients during hand, foot, and tongue movements, both before and after DBS implant. Provided that all safety conditions are followed, it is possible to perform fMRI in patients with PD and DBS. The standard DBS surgical procedure has to be slightly modified in order to reduce image artifacts. The event-related design provided increased power to detect sensorimotor cortex and basal ganglia activation.