Intracranial germinoma causing cerebral haemiatrophy and hypopituitarism.

A young woman presented with primary amenorrhoea, progressive haemiparesis, visual disturbance, dementia and focal motor seizures. Investigations showed hypopituitarism, unilateral cerebral atrophy and inflamed cerebrospinal fluid. A trans-sphenoidal biopsy gave a unifying diagnosis of a pituitary germinoma.

Intraoperative assistive technologies and extent of resection in glioma surgery: a systematic review of prospective controlled studies.

Several studies published to date about glioma surgery have addressed the validity of using novel technologies for intraoperative guidance and potentially improved outcomes. However, most of these reports are limited by questionable methods and/or by their retrospective nature. In this work, we performed a systematic review of the literature to address the impact of intraoperative assistive technologies on the extent of resection (EOR) in glioma surgery, compared to conventional unaided surgery. We were also interested in two secondary outcome variables: functional status and progression-free survival. We primarily used PubMed to search for relevant articles. Studies were deemed eligible for our analysis if they (1) were prospective controlled studies; (2) used EOR as their primary target outcome, assessed by MRI volumetric analysis; and (3) had a homogeneous study population with clear inclusion criteria. Out of 493 publications identified in our initial search, only six matched all selection criteria for qualitative synthesis. Currently, the evidence points to 5-ALA, DTI functional neuronavigation, neurophysiological monitoring, and intraoperative MRI as the best tools for improving EOR in glioma surgery. Our sample and conclusions were limited by the fact that studies varied in terms of population characteristics and in their use of different volumetric analyses. We were also limited by the low number of prospective controlled trials available in the literature. Additional evidence-based high-quality studies assessing cost-effectiveness should be conducted to better determine the benefits of intraoperative assistive technologies in glioma surgery.

Right versus left temporal lobe semiology in dementia: Lessons from two cases with focal frontotemporal dementia syndromes.

Focal atrophy of the left anterior temporal lobe has been associated with the semantic type of primary progressive aphasia evolving to semantic dementia. In contrast, focal atrophy of the right temporal lobe has more recently been described as a controverse entity reported as the right temporal variant of FTD. We describe two cases of FTD dementia syndromes: in Case 1, atrophy of the right temporal lobe led to significant behavioural impairment and difficulties in recognizing known people. In Case 2, atrophy of the left temporal lobe was associated with severe aggressive, ritualistic behaviour and aphasia.

Phenotypic and Positron Emission Tomography with [18F]fluordeoxyglucose (FDG PET) differences in corticobasal syndrome: comparison of two cases.

Corticobasal syndrome (CBS) is a rare cause of dementia and comprises varied combinations of subcortical signs (akinetic-rigid parkinsonism, dystonia, or myoclonus) with cortical signs (apraxia, alien hand or cortical sensory deficit), usually asymmetric. We aimed to report and compare the clinical and neuroimaging presentation of two patients diagnosed with CBS. While case 1 had severe non-fluent aphasia associated with mild apraxia and limb rigidity, case 2 had a more posterior cognitive impairment, with a different language pattern associated with marked visuospatial errors and hemineglect. FDG PET played a significant role in diagnosis, suggesting, in the first case, corticobasal degeneration and, in the second, Alzheimer's disease pattern. CBS has been widely studied with the advent of new in vivo methods such as brain FDG PET. Studies that deepen the phenotypic and biomarker heterogeneity of CBS will be of great importance for better classification, prognosis, and treatment of the condition.

A síndrome corticobasal (SCB) é uma causa rara de demência e compreende combinações variadas de sinais subcorticais (parkinsonismo acinético-rígido, distonia ou mioclonias) com sinais corticais (apraxia, mão alienígena ou déficit sensorial cortical), geralmente assimétricos. Nosso objetivo foi relatar e comparar as apresentações clínica e de neuroimagem de dois pacientes com diagnóstico de SCB. Enquanto o caso 1 apresentava afasia grave não fluente associada a apraxia leve e rigidez de membros, o caso 2 exibia comprometimento cognitivo mais posterior, com padrão de linguagem distinto, erros visuoespaciais e heminegligência. O FDG PET teve papel significativo no diagnóstico, sugerindo, no primeiro caso, degeneração corticobasal e, no segundo, padrão Alzheimer. A SCB tem sido amplamente estudada com o advento de novos métodos in vivo, como o FDG PET cerebral. Estudos que aprofundem a heterogeneidade fenotípica e de biomarcadores da SCB serão de grande importância para melhor classificação, prognóstico e tratamento da doença.

Allostatic load measures in older adults with subjective cognitive decline and mild cognitive impairment: A cross-sectional analysis from the Brazilian Memory and Aging Study.

INTRODUCTION: An increasing body of research suggests that stress and allostatic load are related to cognitive dysfunction and neurodegeneration. OBJECTIVES: to determine the relationship between allostatic load (AL) and cognitive status in older adults classified with subjective cognitive decline (SCD) and mild cognitive impairment (MCI). METHODOLOGY: Using the Brazilian Memory and Aging Study (BRAMS) database, we analyzed data from 57 older adults with SCD and MCI. Blood neuroendocrine (cortisol, DHEA-s), inflammatory (C-reactive protein, fibrinogen), metabolic (HbA1c, HDL-cholesterol, total cholesterol, creatinine), and cardiovascular (blood pressure, waist/hip ratio) were transformed into an AL index. RESULTS: Despite a significant difference in the univariate analysis between waist/hip ratio (0.94 in the MCI group vs. 0, 88 in the SCD group, p = 0.03), total cholesterol levels (194 vs. 160, p = 0.02), and AL index (36.9 % in the MCI group vs. 27.2 % in the SCD group, p = 0.04), AL was not associated with SCD or MCI in the multivariate analysis. CONCLUSION: Our data suggest that different profiles of AL in MCI compared to individuals with SCD could be due to cofounding factors. These findings need to be confirmed in longitudinal studies investigating profiles of AL changes at preclinical and prodromal stages of Alzheimer's disease.

Current clinical and research practices on frontotemporal dementia in Brazil: a national survey.

BACKGROUND: Frontotemporal dementia (FTD) is a frequent cause of young-onset dementia and represents a major challenge for the diagnosis and clinical management. It is essential to evaluate the difficulties faced by physicians on the diagnostic workup and on patient care. OBJECTIVE: The aim of this study was to investigate the current practices and the local limits on the diagnosis and management of FTD in Brazil. METHODS: We elaborated an online survey, composed of 29 questions and divided in four parts, comprising questions about existing health facilities, clinical practices related to FTD, and suggestions to increment the national research on FTD. The invitation to participate was sent by email to all neurologists affiliated to the Brazilian Academy of Neurology (n = 3658), and to all physicians who attended the XII Meeting of Researchers on Alzheimer's disease, in 2019 (n = 187). The invitation was also diffused through social media. RESULTS: 256 Brazilian physicians answered the questionnaire. The three most relevant disorders for the differential diagnosis of FTD were Alzheimer's disease (AD) (n = 211), bipolar disorder (n = 117) and dementia with Lewy bodies (n = 92). Most respondents (125/256) reported the difficulty in performing genetic testing as the main limit in the diagnostic of FTD. 93% and 63% of participants considered that the assessment of social cognition and AD CSF biomarkers are useful for the diagnosis of FTD, respectively. CONCLUSIONS: The present study may provide valuable insights for the medical education and clinical training of physicians, and to foster future research on FTD in Brazil.

ANTECEDENTES: A demência frontotemporal (DFT) é causa frequente de demência pré-senil e representa um desafio em termos de diagnóstico e de manejo clínico. É essencial avaliar as dificuldades existentes na propedêutica e nos cuidados médicos. OBJETIVO: Investigar as práticas médicas e as dificuldades para diagnóstico e manejo da DFT no Brasil. MéTODOS: Elaborou-se um questionário online, composto de 29 questões, divididas em quatro partes, com perguntas sobre infraestrutura existente, práticas clínicas relacionadas à DFT e sugestões para desenvolver a pesquisa nacional na área. O convite para participação foi enviado por e-mail a todos neurologistas afiliados à Academia Brasileira de Neurologia (n = 3658), e aos médicos que participaram da XII Reunião de Pesquisadores de Doença de Alzheimer, em 2019 (n = 187). O convite também foi divulgado através de mídias sociais. RESULTADOS: 256 médicos brasileiros responderam o questionário. Os três principais diagnósticos diferenciais de DFT foram doença de Alzheimer (n = 211), transtorno bipolar (n = 117) e demência com corpos de Lewy (n = 92). A maior parte dos respondedores (125/256) apontou a dificuldade em realizar testagem genética como o maior limite no diagnóstico de DFT. 93% e 63% dos respondedores indicaram que a avaliação de cognição social e o uso de biomarcadores liquóricos de doença de Alzheimer são úteis no diagnóstico de DFT, respectivamente. CONCLUSõES: Estes resultados devem ser considerados na educação e treinamento médicos, e no desenvolvimento da pesquisa brasileira em DFT.

Treatment of dementia: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

There is currently no cure for neurodegenerative or vascular dementias, but some pharmacological and non-pharmacological interventions may contribute to alleviate symptoms, slow disease progression and improve quality of life. Current treatment approaches are based on etiology, symptom profile and stage of dementia. This manuscript presents recommendations on pharmacological and non-pharmacological treatments of dementia due to Alzheimer's disease, vascular cognitive impairment, frontotemporal dementia, Parkinson's disease dementia, and dementia with Lewy bodies.

Atualmente não há tratamento curativo para as demências neurodegenerativas ou para a demência vascular, mas algumas intervenções farmacológicas e não farmacológicas podem contribuir para aliviar os sintomas, retardar a progressão da doença e melhorar a qualidade de vida. As abordagens terapêuticas atuais são baseadas na etiologia, no perfil dos sintomas e no estágio da demência. Neste artigo apresentamos recomendações sobre os tratamentos farmacológicos e não farmacológicos da demência devida à doença de Alzheimer, comprometimento cognitivo vascular, demência frontotemporal, demência da doença de Parkinson e demência com corpos de Lewy.

Management in severe dementia: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

Alzheimer's disease (AD) and other neurodegenerative dementias have a progressive course, impairing cognition, functional capacity, and behavior. Most studies have focused on AD. Severe dementia is associated with increased age, higher morbidity-mortality, and rising costs of care. It is fundamental to recognize that severe dementia is the longest period of progression, with patients living for many years in this stage. It is the most heterogeneous phase in the process, with different abilities and life expectancies. This practice guideline focuses on severe dementia to improve management and care in this stage of dementia. As it is a long period in the continuum of dementia, clinical practice should consider non-pharmacological and pharmacological approaches. Multidisciplinary interventions (physical therapy, speech therapy, nutrition, nursing, and others) are essential, besides educational and support to caregivers.

A doença de Alzheimer (DA) e outras demências neurodegenerativas têm um curso progressivo com comprometimento da cognição, capacidade funcional e comportamento. A maioria dos estudos enfocou a DA. A demência grave está associada ao aumento da idade, maior morbimortalidade e aumento dos custos de cuidados. É fundamental reconhecer que a demência grave é o período mais longo de progressão, com o paciente vivendo muitos anos nesta fase. É a fase mais heterogênea do processo, com diferentes habilidades e expectativa de vida. Esta diretriz de prática concentra-se na demência grave para melhorar o manejo e o cuidado nessa fase da demência. Como um longo período no continuum da demência, as abordagens não farmacológicas e farmacológicas devem ser consideradas. Intervenções multidisciplinares (fisioterapia, fonoaudiologia, nutrição, enfermagem, entre outras) são essenciais, além de educacionais e de apoio aos cuidadores.

Diagnosis of Alzheimer's disease: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

This paper presents the consensus of the Scientific Department of Cognitive Neurology and Aging from the Brazilian Academy of Neurology on the diagnostic criteria for Alzheimer's disease (AD) in Brazil. The authors conducted a literature review regarding clinical and research criteria for AD diagnosis and proposed protocols for use at primary, secondary, and tertiary care levels. Within this clinical scenario, the diagnostic criteria for typical and atypical AD are presented as well as clinical, cognitive, and functional assessment tools and complementary propaedeutics with laboratory and neuroimaging tests. The use of biomarkers is also discussed for both clinical diagnosis (in specific conditions) and research.

Este artigo apresenta o consenso realizado pelo Departamento Científico de Neurologia Cognitiva e do Envelhecimento da Academia Brasileira de Neurologia sobre os critérios diagnósticos da Doença de Alzheimer (DA) no Brasil. Foi realizada uma revisão da literatura e dos critérios clínicos e de pesquisa para DA, sendo propostos protocolos para o diagnóstico de DA em níveis de atenção primária, secundária e terciária. Dentro deste cenário clínico, são apresentados os critérios diagnósticos para DA típica e atípica, além de instrumentos de avaliação clínica, cognitiva e funcional; bem como propedêutica complementar com exames laboratoriais e de neuroimagem. A utilização de biomarcadores é também apresentada, tanto para o diagnóstico clínico em situações específicas quanto para pesquisa.

Diagnosis of frontotemporal dementia: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

"Frontotemporal dementia" (FTD) is a clinical syndrome characterized by the focal involvement of the frontal and/or temporal lobes. FTD has three clinical phenotypes: the behavioral variant and two linguistic subtypes, namely, non-fluent/agrammatic primary progressive aphasia (PPA-NF/A) and semantic PPA (PPA-S). FTD is the second most common cause of dementia in individuals under the age of 65 years. This article presents recommendations for the diagnosis of FTD in the Brazilian scenario, considering the three levels of complexity of the health system: primary health care, secondary and tertiary levels. Diagnostic guidelines are proposed, including cognitive testing, behavioral and language assessments, laboratory tests, and neuroimaging.

A "demência frontotemporal" (DFT) é uma síndrome clínica, cujo denominador comum é o acometimento focal dos lobos frontais e/ou temporais. A DFT tem três fenótipos clínicos distintos: a variante comportamental e dois subtipos linguísticos, a saber, a afasia progressiva primária não-fluente/agramática (APP-NF/A) e a afasia progressiva primária semântica (APP-S). A DFT é a segunda causa mais comum de demência em indivíduos com idade inferior a 65 anos, após a doença de Alzheimer. O presente artigo apresenta recomendações para diagnóstico da DFT no cenário brasileiro, considerando os três níveis de complexidade do sistema de saúde: atenção primária à saúde e níveis secundários. São propostos protocolos de investigação diagnóstica abrangendo testagem cognitiva, avaliação comportamental, avaliação fonoaudiológica, exames laboratoriais e de neuroimagem.

Diagnosis and management of Parkinson's disease dementia and dementia with Lewy bodies: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB) represent the second most common type of degenerative dementia in patients aged 65 years and older, leading to progressive cognitive dysfunction and impaired quality of life. This study aims to provide a consensus based on a systematic Brazilian literature review and a comprehensive international review concerning PDD and DLB. Moreover, we sought to report on and give recommendations about the best diagnostic approaches focusing on primary and secondary care. Based on the available data, we recommend clinicians to apply at least one brief global cognitive instrument to assess PDD, such as the Mini-Mental State Examination and preferably the Montreal Cognitive Assessment and the Addenbrooke's Cognitive Examination-Revised. Validated instruments to accurately assess functional abilities in Brazilian PD patients are still incipient. Further studies should focus on biomarkers with Brazilian cohorts.

A demência da doença de Parkinson (DDP) e a demência com corpos de Lewy (DCL) representam a segunda causa mais comum de demência neurodegenerativa em pessoas com mais de 65 anos, ocasionando progressivo declínio cognitivo e comprometimento da qualidade de vida. O presente estudo tem como objetivo prover um consenso de especialistas sobre a DDP e DCL, baseado em revisão sistemática da literatura brasileira e revisão não-sistemática de literatura internacional. Ademais, tal estudo visa promover informação e conceder recomendações sobre abordagem diagnóstica, com foco nos níveis de atenção primária e secundária em saúde. Com base nos dados disponíveis, recomendamos que os profissionais realizem pelo menos um breve instrumento cognitivo global, como o Mini-Exame do Estado Mental, contudo de preferência optem pela Avaliação Cognitiva de Montreal e o Exame Cognitivo de Addenbrooke-Revisado. Observa-se uma carência de instrumentos validados para a avaliação precisa das habilidades funcionais em pacientes brasileiros com DDP e DCL. Além disso, mais estudos focando em biomarcadores com coortes brasileiras também são necessários.

Subjective cognitive decline, mild cognitive impairment, and dementia - syndromic approach: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

This consensus, performed by the Brazilian Academy of Neurology (BAN) will approach practically how to evaluate patients with cognitive complaints and how to clinically and etiologically diagnose the three clinical syndromes associated with the different stages of cognitive decline: subjective cognitive decline (SCD), mild cognitive impairment (MCI), and dementia. This BAN consensus discusses SCD diagnosis for the first time, updates MCI and dementia diagnoses, recommends the adequate cognitive tests and the relevant etiological work-up and care of patients with cognitive decline at different levels of care within the Brazilian Unified Health System. We also review the main assessment instruments used in Brazil and Latin America.

Este consenso realizado pela Academia Brasileira de Neurologia (ABN) abordará de maneira prática como avaliar pacientes com queixas cognitivas e como realizar o diagnóstico clínico e etiológico das três síndromes clínicas associadas aos estágios de declínio cognitivo: declínio cognitivo subjetivo (DCS), comprometimento cognitivo leve (CCL) e demência. O diagnóstico de DCS é discutido pela primeira vez em consenso da ABN e as atualizações para o diagnóstico de CCL e demência são abordadas, bem como a recomendação para o uso de testes cognitivos apropriados, investigação etiológica pertinente e cuidados aos pacientes com declínio cognitivo nos diferentes níveis de atenção do Sistema Único de Saúde. Foi realizada pesquisa dos principais instrumentos de avaliação utilizados em nosso meio e na América Latina.

Diagnosis of vascular cognitive impairment: recommendations of the scientific department of cognitive neurology and aging of the Brazilian Academy of Neurology.

Since the publication of the latest recommendations for the diagnosis and treatment of Vascular Dementia by the Brazilian Academy of Neurology in 2011, significant advances on the terminology and diagnostic criteria have been made. This manuscript is the result of a consensus among experts appointed by the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology (2020-2022). We aimed to update practical recommendations for the identification, classification, and diagnosis of Vascular Cognitive Impairment (VCI). Searches were performed in the MEDLINE, Scopus, Scielo, and LILACS databases. This guideline provides a comprehensive review and then synthesizes the main practical guidelines for the diagnosis of VCI not only for neurologists but also for other professionals involved in the assessment and care of patients with VCI, considering the different levels of health care (primary, secondary and tertiary) in Brazil.

Desde a publicação das últimas recomendações para o diagnóstico e tratamento da Demência Vascular pela Academia Brasileira de Neurologia em 2011, avanços significativos ocorreram na terminologia e critérios diagnósticos. O presente manuscrito é resultado do consenso entre especialistas indicados pelo Departamento Científico de Neurologia Cognitiva e do Envelhecimento da Academia Brasileira de Neurologia (2020-2022). O objetivo foi atualizar as recomendações práticas para a identificação, classificação e diagnóstico do Comprometimento Cognitivo Vascular (CCV). As buscas foram realizadas nas plataformas MEDLINE, Scopus, Scielo e LILACS. As recomendações buscam fornecer uma ampla revisão sobre o tema, então sintetizar as evidências para o diagnóstico do CCV não apenas para neurologistas, mas também para outros profissionais de saúde envolvidos na avaliação e nos cuidados ao paciente com CCV, considerando as diferentes realidades dos níveis de atenção à saúde (primário, secundário e terciário) no Brasil.

Physical exercise as a non-pharmacological strategy for reducing behavioral and psychological symptoms in elderly with mild cognitive impairment and dementia: a systematic review of randomized clinical trials.

BACKGROUND: Elderly people with dementia may exhibit behavioral and psychological symptoms throughout the course of disease. Non-pharmacological therapies, such as regular physical activity, are considered strategies for managing these symptoms. OBJECTIVE: The aim of this study was to investigate whether participation in physical exercise programs is effective in reducing behavioral and neuropsychiatric symptoms in elderly people with Mild Cognitive Impairment (MCI) and dementia. METHODS: A literature review was carried out in MEDLINE (PubMed), SciELO, Web of Science, Scopus and SPORTDiscus databases from 2010 to 2020. The eligible studies were randomized clinical trials involving elderly people with mild cognitive impairment or dementia and assessing changes in neuropsychiatric and psychological symptoms as primary or secondary outcomes. The studies had a group with only physical exercise as an intervention compared to a control group. RESULTS: Of 175 publications identified in the initial survey, only 7 studies met the eligibility criteria. Four out of 7 studies demonstrated positive effects in reducing behavioral symptoms, while the others did not report differences between gains according to the type of protocol. CONCLUSIONS: Moderate to intense aerobic and muscle strengthening exercises may have a potential benefit in the management of behavioral and psychological symptoms in dementia, but studies varied in their conclusions. This review indicates the need for further intervention studies to investigate, as a primary outcome, the absolute effect of physical exercise and its impact on behavioral and psychological symptoms in elderly people with MCI dementia, especially in the early stages of the disease.

Challenges in the diagnosis of dementia: insights from the United Kingdom-Brazil Dementia Workshop.

In July 2019, a group of multidisciplinary dementia researchers from Brazil and the United Kingdom (UK) met in the city of Belo Horizonte, Minas Gerais, Brazil, to discuss and propose solutions to current challenges faced in the diagnosis, public perception and care of dementia. Here we summarize the outcomes from the workshop addressing challenges in diagnosis. Brazil faces a major problem in dementia underdiagnosis, particularly involving the population in an adverse socioeconomic context. There is poor availability of resources and specialists, and the knowledge of general practitioners and other healthcare professionals is far from satisfactory. Low education level is a further obstacle in diagnosing dementia, as the most commonly used screening tests are not designed to evaluate this population. Patients and their families must overcome the stigma of a diagnosis of dementia, which is still prevalent in Brazil and increases the burden of this condition. Whilst the UK has greater resources, dedicated memory services and a National Dementia Strategy plan, the National Health Service (NHS) has limited funding. Therefore, some challenges regarding diagnosis are common across both countries. The authors suggest possible solutions to confront these, with the goal of improving assessment and recognition of dementia and reducing misdiagnosis.

Em julho de 2019, um grupo multidisciplinar de pesquisadores em demência do Brasil e do Reino Unido se reuniu em Belo Horizonte para discutir e propor soluções para os desafios no diagnóstico, percepção pública e tratamento dessa condição. Neste artigo, sintetizamos as conclusões do workshop sobre os desafios no diagnóstico de demência. O Brasil enfrenta um grande problema no subdiagnóstico de demência, principalmente entre a população em condições socioeconômicas adversas. Há pouca disponibilidade de recursos e de especialistas e o conhecimento de médicos generalistas e de outros profissionais de saúde é pouco abrangente. Baixa escolaridade é também um obstáculo no diagnóstico de demência, uma vez que os testes de rastreio mais utilizados na prática clínica não são estruturados para avaliar a população com esse perfil. Os pacientes com demência e suas famílias ainda têm que superar o estigma do diagnóstico, que é ainda muito prevalente no Brasil e colabora para a piora da qualidade de vida. O Reino Unido, por outro lado, dispõe de mais recursos financeiros e de pessoal, possui serviços dedicados à avaliação de problemas de memória e um plano estratégico nacional para demência. Contudo, o National Health Service (NHS) tem verbas limitadas, o que faz com que alguns dos desafios no diagnóstico de demência sejam comuns aos dois países. Os autores sugerem possíveis soluções para enfrentá-los, com o objetivo de melhorar a avaliação e o reconhecimento da demência e reduzir os erros de diagnóstico.

Second-Generation RT-QuIC Assay for the Diagnosis of Creutzfeldt-Jakob Disease Patients in Brazil.

The recent development of IQ-CSF, the second generation of real-time quaking-induced conversion (RT-QuIC) using cerebrospinal fluid (CSF), for the diagnosis of Creutzfeldt-Jakob Disease (CJD) represents a major diagnostic advance in the field. Highly accurate results have been reported with encouraging reproducibility among different centers. However, availability is still insufficient, and only a few research centers have access to the method in developing countries. In Brazil, we have had 603 suspected cases of CJD since 2005, when surveillance started. Of these, 404 were undiagnosed. This lack of diagnosis is due, among other factors, to the lack of a reference center for the diagnosis of these diseases in Brazil, resulting in some of these samples being sent abroad for analysis. The aim of this research study is to report the pilot use of IQ-CSF in a small cohort of Brazilian patients with possible or probable CJD, implementing a reference center in the country. We stored CSF samples from patients with possible, probable or genetic CJD (one case) during the time frame of December 2016 through June 2018. All CSF samples were processed according to standardized protocols without access to the clinical data. Eight patients presented to our team with rapidly progressive dementia and typical neurological signs of CJD. We used CSF samples from seven patients with other neurological conditions as negative controls. Five out of seven suspected cases had positive tests; two cases showed inconclusive results. Among controls, there was one false-positive (a CSF sample from a 5-year-old child with leukemia under treatment). The occurrence of a false positive in one of the negative control samples raises the possibility of the presence of interfering components in the CSF sample from patients with non-neurodegenerative pathologies. Our pilot results illustrate the feasibility of having CJD CSF samples tested in Brazilian centers and highlight the importance of interinstitutional collaboration to pursue a higher diagnostic accuracy in CJD in Brazil and Latin America.

Phenotypic and Positron Emission Tomography with [18F]fluordeoxyglucose (FDG PET) differences in corticobasal syndrome: comparison of two cases / Diferenças fenotípicas e do PET FDG na síndrome corticobasal: comparação de dois casos

ABSTRACT Corticobasal syndrome (CBS) is a rare cause of dementia and comprises varied combinations of subcortical signs (akinetic-rigid parkinsonism, dystonia, or myoclonus) with cortical signs (apraxia, alien hand or cortical sensory deficit), usually asymmetric. We aimed to report and compare the clinical and neuroimaging presentation of two patients diagnosed with CBS. While case 1 had severe non-fluent aphasia associated with mild apraxia and limb rigidity, case 2 had a more posterior cognitive impairment, with a different language pattern associated with marked visuospatial errors and hemineglect. FDG PET played a significant role in diagnosis, suggesting, in the first case, corticobasal degeneration and, in the second, Alzheimer's disease pattern. CBS has been widely studied with the advent of new in vivo methods such as brain FDG PET. Studies that deepen the phenotypic and biomarker heterogeneity of CBS will be of great importance for better classification, prognosis, and treatment of the condition.

RESUMO A síndrome corticobasal (SCB) é uma causa rara de demência e compreende combinações variadas de sinais subcorticais (parkinsonismo acinético-rígido, distonia ou mioclonias) com sinais corticais (apraxia, mão alienígena ou déficit sensorial cortical), geralmente assimétricos. Nosso objetivo foi relatar e comparar as apresentações clínica e de neuroimagem de dois pacientes com diagnóstico de SCB. Enquanto o caso 1 apresentava afasia grave não fluente associada a apraxia leve e rigidez de membros, o caso 2 exibia comprometimento cognitivo mais posterior, com padrão de linguagem distinto, erros visuoespaciais e heminegligência. O FDG PET teve papel significativo no diagnóstico, sugerindo, no primeiro caso, degeneração corticobasal e, no segundo, padrão Alzheimer. A SCB tem sido amplamente estudada com o advento de novos métodos in vivo, como o FDG PET cerebral. Estudos que aprofundem a heterogeneidade fenotípica e de biomarcadores da SCB serão de grande importância para melhor classificação, prognóstico e tratamento da doença.

Current clinical and research practices on frontotemporal dementia in Brazil: a national survey / Práticas clínicas e cenário de pesquisa em demência frontotemporal no Brasil: uma enquete nacional

Abstract Background Frontotemporal dementia (FTD) is a frequent cause of young-onset dementia and represents a major challenge for the diagnosis and clinical management. It is essential to evaluate the difficulties faced by physicians on the diagnostic workup and on patient care. Objective The aim of this study was to investigate the current practices and the local limits on the diagnosis and management of FTD in Brazil. Methods We elaborated an online survey, composed of 29 questions and divided in four parts, comprising questions about existing health facilities, clinical practices related to FTD, and suggestions to increment the national research on FTD. The invitation to participate was sent by email to all neurologists affiliated to the Brazilian Academy of Neurology (n = 3658), and to all physicians who attended the XII Meeting of Researchers on Alzheimer's disease, in 2019 (n = 187). The invitation was also diffused through social media. Results 256 Brazilian physicians answered the questionnaire. The three most relevant disorders for the differential diagnosis of FTD were Alzheimer's disease (AD) (n = 211), bipolar disorder (n = 117) and dementia with Lewy bodies (n = 92). Most respondents (125/256) reported the difficulty in performing genetic testing as the main limit in the diagnostic of FTD. 93% and 63% of participants considered that the assessment of social cognition and AD CSF biomarkers are useful for the diagnosis of FTD, respectively. Conclusions The present study may provide valuable insights for the medical education and clinical training of physicians, and to foster future research on FTD in Brazil.

Resumo Antecedentes A demência frontotemporal (DFT) é causa frequente de demência pré-senil e representa um desafio em termos de diagnóstico e de manejo clínico. É essencial avaliar as dificuldades existentes na propedêutica e nos cuidados médicos. Objetivo Investigar as práticas médicas e as dificuldades para diagnóstico e manejo da DFT no Brasil. Métodos Elaborou-se um questionário online, composto de 29 questões, divididas em quatro partes, com perguntas sobre infraestrutura existente, práticas clínicas relacionadas à DFT e sugestões para desenvolver a pesquisa nacional na área. O convite para participação foi enviado por e-mail a todos neurologistas afiliados à Academia Brasileira de Neurologia (n = 3658), e aos médicos que participaram da XII Reunião de Pesquisadores de Doença de Alzheimer, em 2019 (n = 187). O convite também foi divulgado através de mídias sociais. Resultados 256 médicos brasileiros responderam o questionário. Os três principais diagnósticos diferenciais de DFT foram doença de Alzheimer (n = 211), transtorno bipolar (n = 117) e demência com corpos de Lewy (n = 92). A maior parte dos respondedores (125/256) apontou a dificuldade em realizar testagem genética como o maior limite no diagnóstico de DFT. 93% e 63% dos respondedores indicaram que a avaliação de cognição social e o uso de biomarcadores liquóricos de doença de Alzheimer são úteis no diagnóstico de DFT, respectivamente. Conclusões Estes resultados devem ser considerados na educação e treinamento médicos, e no desenvolvimento da pesquisa brasileira em DFT.

Gerstmann's syndrome and unilateral optic ataxia in the emergency department.

A 75-year-old right-handed woman presented to the emergency department with simultanagnosia and right unilateral optic ataxia. Moreover, the patient had agraphia, acalculia, digital agnosia and right-left disorientation, consistent with complete Gerstmann's syndrome. This case highlights the concurrence of Gerstmann's syndrome and unilateral optic ataxia in the acute phase of a left middle cerebral artery stroke.

Uma paciente de 75 anos e destra se apresentou à sala de emergência com quadro de simultanagnosia e ataxia óptica unilateral à direita. Além disso, a paciente tinha agrafia, acalculia, agnosia digital e desorientação direita-esquerda, compatíveis com a síndrome de Gerstmann. O presente caso destaca a ocorrência simultânea da síndrome de Gerstmann com ataxia óptica unilateral na fase aguda do acidente vascular cerebral da artéria cerebral média esquerda.

Diagnóstico e manejo da demência da doença de Parkinson e demência com corpos de Lewy: recomendações do Departamento Científico de Neurologia Cognitiva e do Envelhecimento da Academia Brasileira de Neurologia / Diagnosis and management of Parkinson's disease dementia and dementia with Lewy bodies: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology

RESUMO A demência da doença de Parkinson (DDP) e a demência com corpos de Lewy (DCL) representam a segunda causa mais comum de demência neurodegenerativa em pessoas com mais de 65 anos, ocasionando progressivo declínio cognitivo e comprometimento da qualidade de vida. O presente estudo tem como objetivo prover um consenso de especialistas sobre a DDP e DCL, baseado em revisão sistemática da literatura brasileira e revisão não-sistemática de literatura internacional. Ademais, tal estudo visa promover informação e conceder recomendações sobre abordagem diagnóstica, com foco nos níveis de atenção primária e secundária em saúde. Com base nos dados disponíveis, recomendamos que os profissionais realizem pelo menos um breve instrumento cognitivo global, como o Mini-Exame do Estado Mental, contudo de preferência optem pela Avaliação Cognitiva de Montreal e o Exame Cognitivo de Addenbrooke-Revisado. Observa-se uma carência de instrumentos validados para a avaliação precisa das habilidades funcionais em pacientes brasileiros com DDP e DCL. Além disso, mais estudos focando em biomarcadores com coortes brasileiras também são necessários.

ABSTRACT Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB) represent the second most common type of degenerative dementia in patients aged 65 years and older, leading to progressive cognitive dysfunction and impaired quality of life. This study aims to provide a consensus based on a systematic Brazilian literature review and a comprehensive international review concerning PDD and DLB. Moreover, we sought to report on and give recommendations about the best diagnostic approaches focusing on primary and secondary care. Based on the available data, we recommend clinicians to apply at least one brief global cognitive instrument to assess PDD, such as the Mini-Mental State Examination and preferably the Montreal Cognitive Assessment and the Addenbrooke's Cognitive Examination-Revised. Validated instruments to accurately assess functional abilities in Brazilian PD patients are still incipient. Further studies should focus on biomarkers with Brazilian cohorts.