Suggested instruments for General Practitioners in countries with low schooling to screen for cognitive impairment in the elderly.

BACKGROUND: General Practitioners (GPs) from underdeveloped countries apply cognitive impairment (CI) assessment tools translated and adapted to cultural setting from other idioms, mainly English. As schooling in elderly from underdeveloped countries tends to be relatively heterogeneous, it is necessary to establish normative and cut-off scores for these CI instruments that are based on studies conducted locally. Some CI screening instruments frequently used by Brazilian specialists in dementia were analyzed to determine which could be most useful to GPs in their working sets. METHOD: Two hundred forty-eight patients aged 65 years or older that had been assisted by GPs in a tertiary hospital in Brazil were evaluated. Based on the MMSE and/or Short-IQCODE scores, 52 probable cases were identified on the basis of clinical data, performances on the neuropsychological tests and questionnaires (Functional Assessment Questionnaire/FAQ, Category Verbal Fluency/CVF, Clock Drawing Test/CDT) and blood tests and brain CT. RESULTS: The combination of a functional questionnaire with a cognitive instrument had higher sensitivity and specificity than using the instruments alone. A FAQ cut-off of 3 in conjunction with a CDT cut-off of 6 proved optimal (93% sensitivity and 92.5% specificity). A higher specificity (93.5%) was attained using a combination of the FAQ (cut-off of 3) with the CVF (cut-off of 10). CONCLUSIONS: For low schooling elderly, the combination of the FAQ and CVF represented a very simple method of increasing the chances of correct screening. For those with higher schooling, the combination of the FAQ and CDT was more suitable.

Dementia pugilistica with clinical features of Alzheimer's disease.

A 61-year-old ex-boxer presented with a three-year history of progressive memory decline. During a seven-year follow-up period, there was a continuous cognitive decline, very similar to that usually observed in Alzheimer's disease. Parkinsonian, pyramidal or cerebellar signs were conspicuously absent. Neuropathological examination revealed the typical features of dementia pugilistica: cavum septi pellucidi with multiple fenestrations, numerous neurofibrillary tangles in the cerebral isocortex and hippocampus (and rare senile plaques). Immunohistochemistry disclosed a high number of tau protein deposits and scarce beta-amyloid staining. This case shows that dementia pugilistica may present with clinical features practically undistinguishable from Alzheimer's disease.

Comparison between two tests of delayed recall for the diagnosis of dementia.

UNLABELLED: Diagnosis of dementia is a challenge in populations with heterogeneous educational background. OBJECTIVE: To compare the accuracies of two delayed recall tests for the diagnosis of dementia in a community with high proportion of illiterates. METHOD: The delayed recall of a word list from the CERAD battery (DR-CERAD) was compared with the delayed recall of objects presented as line drawings from the Brief Cognitive Screening Battery (DR-BCSB) using ROC curves. Illiterate (23 controls and 17 patients with dementia) and literate individuals (28 controls and 17 patients with dementia) were evaluated in a community-dwelling Brazilian population. RESULTS: The DR-BCSB showed higher accuracy than the DR-CERAD in the illiterate (p=0.029), similar accuracy in the literate individuals (p=0.527), and a trend for higher accuracy in the entire population (p=0.084). CONCLUSION: the DR-BCSB could be an alternative for the diagnosis of dementia in populations with high proportion of illiterates.

Which factors are associated with global cognitive impairment in Wilson's disease?

BACKGROUND: Patients with Wilson's disease (WD) present cognitive impairment, especially in executive functions. Which other factors might be associated with global cognitive decline in these patients remains unclear. OBJECTIVE: To assess which factors are associated with worse performance on a global cognitive test in patients with WD. METHODS: Twenty patients with WD underwent cognitive assessment with the following tests: the Mini-Mental State Examination (MMSE), Dementia Rating Scale (DRS), verbal fluency test, brief cognitive battery, clock drawing test, Frontal Assessment Battery, Stroop test, Wisconsin card sorting test, Hopper test, cubes (WAIS) and the Pfeffer questionnaire. MRI changes were quantified. Patients with poor performance on the DRS were compared to patients with normal performance. RESULTS: Nine patients had a poor performance on the DRS. This group had lower educational level (9.11±3.58× 12.82±3.06) and a greater number of changes on MRI (9.44±2.74× 6.27±2.45). The presence of hyperintensity in the globus pallidus on MRI was more frequent in this group (66.6% vs 9.0%), with OR=5.38 (95% CI 0.85-33.86). CONCLUSION: Global cognitive impairment was prevalent in this sample of patients with WD and was associated with low educational level, number of changes on MRI and MRI hyperintensity in the globus pallidus.

EMBASAMENTO: Pacientes com doença de Wilson (DW) apresentam comprometimento cognitivo, principalmente de funções executivas. Existem dúvidas sobre quais outros fatores poderiam estar associados ao declínio cognitivo global nesses pacientes. OBJETIVO: Avaliar quais fatores estão associados ao pior desempenho em teste cognitivo global em pacientes com DW. MÉTODOS: Vinte pacientes com DW em tratamento regular foram submetidos à avaliação cognitiva com os seguintes testes: Mini-Exame do Estado Mental, escala de demência de Mattis (DRS), fluência verbal, bateria cognitiva breve, desenho do relógio, bacteria de avaliação frontal, Stroop, teste de seleção de cartões de Wisconsin, Hopper, Cubos e ao questionário de Pfeffer. As alterações em RM foram quantificadas. Pacientes com desempenho alterado na DRS foram comparados aos pacientes com desempenho normal. RESULTADOS: Nove pacientes apresentavam desempenho alterado na DRS. Eles apresentavam menor nivel educacional (9,11±3,58 × 12,82±3,06 anos, respectivamente) e maior quantidade de alterações na RM (9,44±2,74 × 6,27±2,45). A presença de hipersinal no globo pálido na RM foi mais frequente nesse grupo (66,6% × 9,0%), com OR=5,38 (IC 95% 0,85-33,86). CONCLUSÃO: Alterações cognitivas globais foram frequentes nesta amostra de pacientes com DW e se associaram à baixa escolaridade, quantidade de alterações em RM e a hipersinal no globo pálido à RM.

Thalamus and language: interface with attention, memory and executive functions.

Subcortical structures are in a strategic functional position within the cognitive networks. Their lesion can interfere with a great number of functions. We studied six patients with thalamic vascular lesions (three left sided, two right sided and one bilateral), to characterize their repercussion in the communicative abilities and the interface between language alterations and other cognitive abilities, as attention, memory and frontal executive. All patients were evaluated through a functional interview (discourse analysis), and the following batteries: Boston Diagnostic Aphasia Examination, Boston Naming Test, Token Test, Benton Visual Retention Test, Trail Making, Wisconsin Card Sorting and frontal scripts. All patients performed MRI and five underwent SPECT. Results show that these patients present impairment in several cognitive domains, especially attention and executive functions (working memory, planning and self-monitoring); those with right lesions have an additional visuospatial impairment. Such alterations interfere with language abilities, and this fact must be considered in the rehabilitation efforts.

Contribution to the evaluation of language disturbances in subcortical lesions: a pilot study.

Subcortical structures are in a strategic functional position within the cognitive networks and their lesion can interfere with a great number of functions. In this study, we describe fourteen subjects with exclusively subcortical vascular lesions (eight in the basal ganglia and six in the thalamus) and the interrelation between their language alterations and other cognitive abilities, as attention, memory and frontal executive functions. All patients were evaluated through the following batteries: Boston Diagnostic Aphasia Examination, Boston Naming Test, Token Test, Benton Visual Retention Test, Trail Making, Wisconsin Card Sorting Test and a frontal scripts task. All patients underwent MRI and twelve underwent SPECT. Results show that these patients present impairment in several cognitive domains, especially attention and executive functions. These alterations affect language abilities, and this fact must be considered in the rehabilitation efforts.

Iatrogenic Creutzfeldt-Jakob disease following human growth hormone therapy: case report.

We report the case of a 41-year-old man with iatrogenic Creutzfeldt-Jakob disease (CJD) acquired after the use of growth hormone (GH) obtained from a number of pituitary glands sourced from autopsy material. The incubation period of the disease (from the midpoint of treatment to the onset of clinical symptoms) was rather long (28 years). Besides the remarkable cerebellar and mental signs, the patient exhibited sleep disturbance (excessive somnolence) from the onset of the symptoms, with striking alteration of the sleep architecture documented by polysomnography. 14-3-3 protein was detected in the CSF, and MRI revealed increased signal intensity bilaterally in the striatum, being most evident in diffusion-weighted (DW-MRI) sequences. This is the second case of iatrogenic CJD associated with the use of GH reported in Brazil.

Subjective memory complaints in the elderly: a sign of cognitive impairment?

OBJECTIVES: Cognitive impairment in the elderly is frequently overlooked by general practitioners. The use of subjective memory complaints as a sign of cognitive impairment by the general practice is controversial. METHODS: Elderly individuals (N = 248) were asked whether they had memory complaints and underwent a cognitive impairment screening. Subjects classified as exhibiting "probable cognitive impairment" underwent a complete cognitive evaluation, and the final diagnoses were established by expert consensus. RESULTS: A total of 147 patients presented with subjective memory complaints, and 43 were further classified as demented or "cognitively impaired not demented". Subjective memory complaints presented a sensitivity of 100% and a negative predictive value of 100%. CONCLUSION: Subjective memory complaints are an indicator for cognitive impairment screening.

Prefrontal damage in childhood and changes in the development of personality: a case report.

Frontal lobe lesions are associated with behavioral abnormalities and executive dysfunction. When these lesions occur early in life, the symptoms are even more severe as the anatomical and functional substrates underlying personality and behavior are damaged, distorting normal modulation by interaction with the psychosocial environment. We present a case of a 40-year-old man who suffered a frontal lobe lesion at the age of nine years and developed impulsivity, disinhibition and inappropriate behaviors while showing some preservation of insight. Brain MRI revealed lesions to bilateral orbitofrontal cortex, ventromedial prefrontal cortex, anterior cingulate gyri and genu of the corpus callosum, which were more extensive on the right side. The right prefrontal dorsolateral cortex was severely damaged, whereas the right ventrolateral prefrontal cortex was spared. We will discuss the correlation of the damaged pre frontal regions with the symptoms presented by the patient.

Lesões no lobo frontal são associadas com sintomas de distúrbios do comportamento e disfunção executiva. Quando a lesão ocorre em fase precoce da vida, os sintomas são ainda mais intensos pois o substrato anatômico e funcional da formação da personalidade e comportamento está danificado, então, a sua modulação decorrente da interação com o meio psicossocial será distorcida. Apresentamos aqui o caso de um homem de 40 anos que sofreu uma lesão no lobo frontal aos nove anos de idade, com sintomas de impulsividade com manutenção parcial da autocrítica, desinibição e comportamento inapropriado. A ressonância de crânio evidenciava lesões bilaterais do córtex orbitofrontal da porção anterior do giro do cíngulo e do joelho do corpo caloso e do córtex ventromedial, mais extensa à direita. O córtex pré-frontal dorsolateral estava extensamente acometido à direita, enquanto o córtex pré-frontal ventrolateral parecia poupado. Discutiremos a correlação das áreas pré frontais lesadas com a sintomatologia do paciente.

Mattis dementia rating scale (DRS) normative data for the brazilian middle-age and elderly populations.

OBJECTIVE: To expand norms for the Mattis Dementia Rating Scale (DRS) for the Brazilian middle-age and elderly populations. METHODS: The DRS was administered to 502 individuals without cognitive deficits, 312 women and 190 men, aged 50 years or over and with educational level ranging from 0 to 13 years or more. The sample was composed of subjects who participated in other studies, from Caeté (Minas Gerais state), Ribeirão Preto (São Paulo state) and São Paulo (São Paulo state). Participants were divided into four schooling groups (illiterate, 1 to 4 years, 5 to 12 years and 13 years or more). The subjects were divided into four groups according to age (50 to 60, 61 to 70, 71 to 80, and 80 years or over). RESULTS: Normative data for DRS scores are expressed as percentile values. The group with lowest schooling and subjects older than 80 years had the worst scores. CONCLUSION: As expected, age and education were strongly correlated with DRS scores. Illiterates and older old individuals performed worse than the other groups. These data might help to improve the accuracy of the diagnosis of cognitive impairment and dementia in Brazilian middle-age and elderly populations.

OBJETIVO: Expandir normas para o Mattis Dementia Rating Scale (MDRS) na população brasileira de meia idade e idosa. MÉTODOS: A MDRS foi aplicada em 502 indivíduos, 312 mulheres e 190 homens, com idade de 50 anos ou mais e escolaridade de 0 a 13 anos ou mais anos. A amostra foi composta de sujeitos que participaram de outros estudos: Caeté (Minas Gerais), Ribeirão Preto (São Paulo) e São Paulo (São Paulo). Participantes foram divididos em quatro grupos de escolaridade (analfabetos, 1 a 4 anos, 5 a 12 anos e 13 anos ou mais). Os sujeitos foram divididos em quatro grupos de idade (50 a 60, 61 a 70, 71 a 80 e acima de 80 anos). RESULTADOS: Dados normativos dos escores da MDRS são apresentados em percentis. O grupo com menos escolaridade e sujeitos acima de 80 anos apresentaram escores mais baixos. CONCLUSÃO: Como esperado, idade e escolaridade foram fortemente correlacionados aos escores da MDRS. Analfabetos e indivíduos muito idosos apresentaram pior desempenho que os outros grupos. Os dados podem ajudar a melhorar a acurácia para o diagnóstico de prejuízo cognitivo e demência na população brasileira de meia-idade e idosos.

Screening of cognitive impairment by general internists using two simple instruments.

General internists (GIs) tend to overlook cognitive impairment in the elderly. Lack of time to diagnose and/or poor knowledge on how to use screening instruments may be the reasons for this shortcoming. OBJECTIVES: To verify the efficacy of simple instruments in the screening of cognitive impairment in elders. METHODS: In a previous study, 248 patients aged ≥65 that had been assisted by GIs within outpatient services of a public university hospital in São Paulo, Brazil, were evaluated. The Mini-Mental State Examination and/or the Informant Questionnaire on Cognitive Decline in the Elderly (short-IQCODE) were employed to classify patients into probable cognitively impaired cases or otherwise. Other tests and questionnaires were also applied, but were not used to perform this classification. After full assessment and consensus meetings, cases were classified into dementia, cognitively impaired not demented, and without cognitive impairment. In this study, the sensitivity and specificity of the combined use of the category fluency test (CFT) and the Functional Activities Questionnaire (FAQ) was evaluated as if used as screening instruments for the whole sample. RESULTS: The combined use of the CFT and/or FAQ showed sensitivity of 88.3% and specificity of 76.5% in the screening of cognitive impairment for the whole sample. CONCLUSIONS: Two simple and easy-to-apply instruments showed high sensitivity and reasonable specificity, and are probably useful for the screening of cognitive impairment in the elderly in outpatient services.

Médicos generalistas (MGs) normalmente não detectam comprometimento cognitivo em idosos. Falta de tempo para realizar a triagem de comprometimento cognitivo e pouco conhecimento sobre a forma de realizá-la podem ser as razões desta falha. OBJETIVOS: Verificar a eficácia de instrumentos simples no rastreio de comprometimento cognitivo em idosos. MÉTODOS: Em um estudo prévio, 248 pacientes com idade ≥65, que tinham sido assistidos por MGs em serviços ambulatoriais de um hospital universitário público em São Paulo, Brasil, foram avaliados. O Mini-Exame do Estado Mental e/ou o Questionário com Informante sobre Declínio Cognitivo em Idosos (Short-IQCODE) foram utilizados para classificar os pacientes em casos prováveis de cognição prejudicada ou não. Outros testes e questionários também foram aplicados, mas não foram usados para esta classificação. Depois de avaliação completa e reuniões de consenso, os casos foram classificados como demência, cognição alterada não demência e sem comprometimento cognitivo. Neste estudo avaliamos a sensibilidade e a especificidade do uso de dois instrumentos, o teste de fluência verbal (TFV) e o Questionário de Atividades Funcionais (QAF), se eles tivessem sido empregados como instrumentos de rastreio para toda a amostra. RESULTADOS: O uso combinado do TFV e/ou do QAF mostrou sensibilidade de 88,3% e especificidade de 76,5% no rastreio de comprometimento cognitivo em toda a amostra. CONCLUSÕES: Dois instrumentos simples e de fácil aplicação mostraram alta sensibilidade e razoável especificidade e são provavelmente úteis para o rastreio de comprometimento cognitivo de idosos em ambulatórios.

Thalamic alexia with agraphia.

Alexia with agraphia is defined as an acquired impairment affecting reading and writing ability. It can be associated with aphasia, but can also occur as an isolated entity. This impairment has classically been associated with a left angular gyrus lesion In the present study, we describe a case involving a patient who developed alexia with agraphia and other cognitive deficits after a thalamic hemorrhage. In addition, we discuss potential mechanisms of this cortical dysfunction syndrome caused by subcortical injury. We examined a patient who presented with alexia with agraphia and other cognitive deficits due to a hemorrhage in the left thalamus. Neuropsychological evaluation showed attention, executive function, arithmetic and memory impairments. In addition, language tests revealed severe alexia with agraphia in the absence of aphasia. Imaging studies disclosed an old thalamic hemorrhage involving the anterior, dorsomedial and pulvinar nuclei. Tractography revealed asymmetric thalamocortical radiations in the parietal region (left

Detection of cognitive impairment in the elderly by general internists in Brazil.

BACKGROUND: Cognitive impairment, from mild forms to dementia, is an important social and health concern, principally among older individuals. Elderly patients are usually followed by general internists, who may overlook this condition. OBJECTIVE: Our aim was to determine whether cognitive impairment diagnosed by specialists had been previously detected by general internists. SUBJECTS AND METHODS: A total of 248 elderly individuals randomly selected from a list of outpatients seen by general internists in a public university hospital in São Paulo, Brazil, were evaluated by a geriatrician. Patients were then classified as having probable cognitive impairment or not, based on their performance on the Mini-Mental State Examination and the Informant Questionnaire on Cognitive Decline in the Elderly. Cases of probable impairment were submitted to routine laboratory investigation, brain computed tomography, and neuropsychological evaluation. The final diagnoses were established by a consensus panel comprising two neurologists and the geriatrician who evaluated the patients using all available data. General internists' files for all cognitively impaired cases and for a selected sample of individuals without cognitive impairment were checked for any record of cognitive complaints or decline. RESULTS: Forty-three patients were classified as demented (n = 21) or as cognitively impaired but not demented (n = 22). The evaluation of the general internists' files revealed that information on cognitive complaints or decline was recorded for seven (16.3%) of the 43 patients with dementia or cognitive impairment without dementia. CONCLUSIONS: General internists seldom detected cognitive decline in elderly patients in Brazil. Further studies should be conducted to elucidate the reasons for this low rate of detection.

Which factors are associated with global cognitive impairment in Wilson's disease? / Quais fatores estão associados ao comprometimento cognitivo global na doença de Wilson?

ABSTRACT Background: Patients with Wilson's disease (WD) present cognitive impairment, especially in executive functions. Which other factors might be associated with global cognitive decline in these patients remains unclear. Objective: To assess which factors are associated with worse performance on a global cognitive test in patients with WD. Methods: Twenty patients with WD underwent cognitive assessment with the following tests: the Mini-Mental State Examination (MMSE), Dementia Rating Scale (DRS), verbal fluency test, brief cognitive battery, clock drawing test, Frontal Assessment Battery, Stroop test, Wisconsin card sorting test, Hopper test, cubes (WAIS) and the Pfeffer questionnaire. MRI changes were quantified. Patients with poor performance on the DRS were compared to patients with normal performance. Results: Nine patients had a poor performance on the DRS. This group had lower educational level (9.11±3.58 × 12.82±3.06) and a greater number of changes on MRI (9.44±2.74 × 6.27±2.45). The presence of hyperintensity in the globus pallidus on MRI was more frequent in this group (66.6% vs 9.0%), with OR=5.38 (95% CI 0.85-33.86). Conclusion: Global cognitive impairment was prevalent in this sample of patients with WD and was associated with low educational level, number of changes on MRI and MRI hyperintensity in the globus pallidus.

RESUMO Embasamento: Pacientes com doença de Wilson (DW) apresentam comprometimento cognitivo, principalmente de funções executivas. Existem dúvidas sobre quais outros fatores poderiam estar associados ao declínio cognitivo global nesses pacientes. Objetivo: Avaliar quais fatores estão associados ao pior desempenho em teste cognitivo global em pacientes com DW. Métodos: Vinte pacientes com DW em tratamento regular foram submetidos à avaliação cognitiva com os seguintes testes: Mini-Exame do Estado Mental, escala de demência de Mattis (DRS), fluência verbal, bateria cognitiva breve, desenho do relógio, bacteria de avaliação frontal, Stroop, teste de seleção de cartões de Wisconsin, Hopper, Cubos e ao questionário de Pfeffer. As alterações em RM foram quantificadas. Pacientes com desempenho alterado na DRS foram comparados aos pacientes com desempenho normal. Resultados: Nove pacientes apresentavam desempenho alterado na DRS. Eles apresentavam menor nivel educacional (9,11±3,58 × 12,82±3,06 anos, respectivamente) e maior quantidade de alterações na RM (9,44±2,74 × 6,27±2,45). A presença de hipersinal no globo pálido na RM foi mais frequente nesse grupo (66,6% × 9,0%), com OR=5,38 (IC 95% 0,85-33,86). Conclusão: Alterações cognitivas globais foram frequentes nesta amostra de pacientes com DW e se associaram à baixa escolaridade, quantidade de alterações em RM e a hipersinal no globo pálido à RM.

The influence of schooling on performance in the Mattis Dementia Rating Scale (DRS).

Studies have shown the influence of schooling on performance in the Dementia Rating Scale (DRS), suggesting that a single cut-off score is not appropriate for all groups of elderly people. OBJECTIVES: To verify the influence of schooling on the DRS in a Brazilian elderly population. METHODS: The DRS was applied to 118 cognitively healthy controls and to 97 patients with mild probable Alzheimer's disease (AD). In order to analyze the influence of education, patients and controls were divided into four groups of schooling (GRSC): GRSC 1 with 1 to 4 years of schooling, GRSC 2 with 5 to 8 years of schooling, GRSC 3 with 9 to 11 years of schooling, and GRSC 4 with more than 11 years of schooling. RESULTS: In the intragroup analysis, the performance of controls within each schooling group was compared, revealing a significant difference on total score and the subscales Attention, I/P and Conceptualization. The same procedure was used for the AD patients and a significant difference was observed for total score and the subscales Attention, Construction, Conceptualization and Memory. In the intergroup analysis, the results on total DRS and for the I/P, Conceptualization and Memory subscales showed significant differences in GRSC 1, 2, 3 and 4. The Attention subscale showed differences in GRSC 3 and 4, and on the Construction subscale in GRSC 1 and 4. CONCLUSIONS: The results highlight the importance of norms for the DRS in the Brazilian population that take into account the effects of schooling on the scores of this scale.

Estudos recentes têm demonstrado a influência da escolaridade no desempenho da Escala de Avaliação de Demência (DRS) sugerindo que uma única nota de corte não é apropriada para todos os grupos de pessoas idosas. OBJETIVOS: Verificar a influência da escolaridade na DRS para uma população brasileira de idosos. MÉTODOS: A DRS foi aplicada em 118 controles cognitivamente saudáveis e em 97 pacientes com doença de Alzheimer (DA) leve. Para a análise da influência da escolaridade, pacientes e controles foram separados em quarto grupos de escolaridade (GRESC): GRESC 1 com 1 a 4 anos de escolaridade, GRESC 2 com 5 a 8 anos de escolaridade, GRESC 3 com 9 a 11 anos de escolaridade, e GRESC 4 com mais de 11 anos de escolaridade. RESULTADOS: Na análise intragrupo o desempenho de controles, em cada grupo de escolaridade, foi comparado e diferenças significativas foram estabelecidas no escore total e nas subescalas Atenção, I/P e Conceituação. O mesmo procedimento foi realizado com o grupo de pacientes com DA e diferenças significativas foram observadas no escore total e nas subscalas Atenção, Construção, Conceituação e Memória. Na análise intergrupos o resultado no escore total e nas subescalas I/P, Conceituação e Memória mostraram diferenças significativas no GRESC 1, 2, 3 e 4. A subescala Atenção mostrou diferenças no GRESC 3 e 4 e a subescala Construção nos GRESC 1 e 4. CONCLUSÕES: Os resultados mostraram a importância de normas de escolaridade apropriadas para a DRS na população brasileira levando-se em consideração os efeitos da escolaridade nos escores desta escala.

Dementia in Fragile X-associated Tremor/Ataxia Syndrome.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic lateral sclerosis. We report a case of a 74-year-old man who presented with action tremor, gait ataxia and forgetfulness. There was a family history of tremor and dementia, and one of the patient's grandsons was mentally deficient. Neuropsychological evaluation disclosed a frontal network syndrome. MRI showed hyperintensity of both middle cerebellar peduncles, a major diagnostic hallmark of FXTAS. Genetic testing revealed premutation of the FMR1 gene with an expanded (CGG)90 repeat. The diagnosis of FXTAS is important for genetic counseling because the daughters of the affected individuals are at high risk of having offspring with fragile X syndrome. Tremors and cognitive decline should raise the diagnostic hypothesis of FXTAS, which MRI may subsequently reinforce, while the detection of the FMR1 premutation can confirm the condition.

A síndrome de tremor-ataxia associada ao X-frágil (FXTAS) é uma causa de distúrbios do movimento e de declínio cognitivo que provavelmente tem sido subdiagnosticada, especialmente se a sua prevalência for realmente similar às da paralisia supranuclear progressiva e esclerose lateral amiotrófica. Relatamos um caso de um homem de 74 anos que se apresentou com tremor de ação, ataxia de marcha e esquecimento. Havia história familiar de tremor e de demência e um de seus netos era mentalmente deficiente. A avaliação neuropsicológica demonstrou uma síndrome frontal. A ressonância magnética (RM) revelou hiperintensidade de ambos os pedúnculos cerebelares médios, um critério maior para o diagnóstico de FXTAS. Os testes genéticos confirmaram a presença da pré-mutação do gene FMR1, com uma repetição (CGG)90. O diagnóstico de FXTAS é importante para o aconselhamento genético porque as filhas dos indivíduos afetados tem alto risco de ter uma criança com síndrome do X-frágil. A presença de tremores e declínio cognitivo deve levantar a hipótese diagnóstica de FXTAS, que poderá ser reforçada pela RM e confirmada pela presença da pré-mutação do gene FMR1.

S-TOFHLA in mild Alzheimer's disease and Mild Cognitive Impairment patients as a measure of functional literacy: Preliminary study.

The greatest difficulty in diagnosing cognitive loss in our population is the diversity of its education which has a broad spectrum ranging from illiteracy, functional illiteracy and different degrees of literacy, even in those with the same level of schooling. OBJECTIVES: To verify whether there is impairment on the S-TOFHLA among individuals with AD and MCI compared with healthy controls, and to compare performance on the S-TOFHLA performance with neuropsychological tests and the scores achieved on the Raven's Colored Matrices and Vocabulary and Block Design (WAIS-III) as a measure of estimated intellectual level. METHODS: 59 subjects: controls (n=23; age 70.96±8.31y; schooling 10.2±5.87y; 6 men), MCI patients (n=11; age 74.18±8.12y; schooling 7.55±4.32y; 5 men) and AD patients (n=25; age 76.16±4.96y; schooling 7.32±4.78y; 10 men) were submitted to neuropsychological assessment, S-TOFHLA and functional evaluation. RESULTS: Differences on BD, Raven and Estimated IQ were found between controls and MCI patients as well as controls and AD patients. On the S-TOFHLA, differences were found between MCI and AD patients, controls and AD patients, but not between control and MCI groups. S-TOFHLA performance correlated strongly with schooling and all neuropsychological tests, except Clock Drawing. CONCLUSIONS: The S-TOFHLA seems to be a useful measure for determining the level of literacy in MCI patients, but not in AD patients. S-TOFHLA performance was more closely associated with neuropsychological test scores than were years of education and seems to be a good predictor of level of literacy. The Vocabulary subtest proved to be uninfluenced by the disease process in early stages and preserved in both MCI and AD patients, showing that semantic memory and crystallized intelligence are preserved.

A maior dificuldade no diagnóstico de perda cognitiva na nossa população é sua heterogeneidade educacional, com um espectro que vai do analfabetismo, analfabetismo funcional até os escolarizados com diferentes graus de alfabetização mesmo com o mesmo grau de escolarização. OBJETIVOS: Verificar se existe comprometimento no S-TOFHLA em indivíduos com DA Leve e CCL comparados a controle saudáveis, correlacionando o desempenho do S-TOFHLA à avaliação neuropsicológica e aos escores alcançados no teste Matrizes Progressivas Coloridas de Raven e nos subtestes vocabulário e cubos (WAIS-III) como medida de nível intelectual estimado. MÉTODOS: 59 sujeitos controles (n=23; idade 70.96±8.31anos; escolaridade 10.2±5.87anos; 6 homens), pacientes com CCL (n=11; idade 74.18±8.12 anos; escolaridade 7.55±4.32anos; 5 homens) e pacientes com DA (n=25; idade 76.16±4.96; escolaridade 7.32±4.78;10 homens) foram submetidos a avaliação neuropsicológica, S-TOFHLA e avaliação funcional. RESULTADOS: Em Cubos, Raven e QI Estimado foram encontradas diferenças estatísticas entre controle e pacientes com CCL; controles e pacientes com DA, mas não entre os grupos controle e CCL. O S-TOFHLA correlacionou fortemente com escolaridade e todos os testes neuropsicológicos, exceto Desenho do Relógio. CONCLUSÕES: O S-TOFHLA demonstrou ser uma medida útil em determinar o nível de alfabetismo em paciente com CCL, mas não em pacientes com DA. O S-TOFHLA apresentou maior foi mais relacionado com testes neuropsicológicos do que anos de escolaridade e parece ser um bom preditor do nível de alfabetismo. O subteste Vocabulário demonstrou ser um teste que não sofre com o processo da doença nos estágios iniciais não sofrendo alterações em pacientes com CCL e DA mostrando que memória semântica e inteligência cristalizada são preservadas.

The abbreviated form of the Brief Cognitive Battery in the diagnosis of dementia in Alzheimer's disease.

The Brief Cognitive Battery (BCB) developed by our group for cognitive assessment of low educated individuals has also shown to be highly accurate in diagnosing dementia of individuals with medium or high levels of education, making it a useful tool for populations with heterogeneous educational background. The application of BCB takes around eight minutes, a rather long period for a screening test. OBJECTIVES: Our aim was to evaluate whether the exclusion of items of the BCB could reduce its application time without losing accuracy. METHODS: Patients with Alzheimer's disease with mild or moderate dementia (N=20), and 30 control subjects were submitted to an abbreviated version of the BCB in which the clock drawing test was not included as an interference test for the delayed recall test. Data from another 22 control individuals who were submitted to the original BCB in another study were also included for comparison. A mathematical formula was employed to compare the two versions of the BCB. Descriptive statistics and ROC (receiver operator characteristic) curves were used (alpha=0.05). RESULTS: Using the abbreviated version, the delayed recall test also had high accuracy in diagnosing dementia and the mathematical formula results did not differ to those obtained using the original version, while mean time was reduced by 2 minutes and 37 seconds. CONCLUSIONS: This abbreviated form of the BCB is a potentially valuable tool for screening dementia in population studies as well as in busy clinical practices in countries with heterogeneous educational backgrounds.

A Bateria Cognitiva Breve (BCB), desenvolvida pelo nosso grupo para a avaliação cognitiva de indivíduos de baixa escolaridade, tem se mostrado também bastante precisa no diagnóstico de demência em indivíduos com escolaridade média ou alta, tornando-se uma ferramenta útil para populações com heterogeneidade educacional. A aplicação da BCB demora cerca de oito minutos, um tempo bastante longo para um teste de rastreio cognitivo. OBJETIVOS: Avaliar se a exclusão de itens da BCB pode reduzir o tempo de aplicação, sem perder precisão. MÉTODOS: Pacientes com doença de Alzheimer com demência leve ou moderada (N=20) e 30 indivíduos controle foram submetidos a uma versão abreviada da BCB na qual o teste do desenho do relógio não foi incluído como um teste de interferência para o teste de recordação tardia. Dados de outros 22 indivíduos controle que haviam sido submetidos à BCB original em um outro estudo foram incluídos para comparação. Uma fórmula matemática também foi empregada para comparação entre as duas versões da BCB. Estatísticas descritivas e curvas ROC (receiver operator characteristic) foram utilizadas e admitiu-se alfa=0,05. RESULTADOS: Com a versão abreviada, o teste de recordação tardia também teve alta acurácia no diagnóstico de demência, os resultados das fórmulas matemáticas não foram diferentes daqueles obtidos com a versão original, e o tempo médio foi reduzido em 2 minutos e 37 segundos. CONCLUSÕES: Esta forma abreviada da BCB é uma ferramenta potencialmente útil para o rastreio de demência em estudos populacionais, bem como para o emprego em prática clínica em países em que há grande heterogeneidade educacional.

Study on the Behavioural Assessment of the Dysexecutive Syndrome (BADS) performance in healthy individuals, Mild Cognitive Impairment and Alzheimer's disease: A preliminary study.

Executive deficits as well as deficits in episodic memory characterize the initial phases of Alzheimer Disease (AD) and are clinically correlated to neuropsychiatric symptoms and functional loss. Patients with Mild Cognitive Impairment present more problems as to inhibitory response control, switching and cognitive flexibility. OBJECTIVE: To compare performance on the BADS with performance on other executive functional tests among patients with mild Alzheimer's disease, Amnestic Mild Cognitive Impairment (aMCI) to performance of control individuals and to examine discriminative capacity of BADS among these groups. METHODS: The BADS was performed by 35 healthy controls, 13 patients with aMCI, and 16 mild probable AD patients. Besides performing the BADS, subjects underwent neuropsychological evaluation which comprised: the Dementia Rating Scale (DRS), verbal fluency by phonemic categories (F.A.S) and Concentrated Attention Test (CA). RESULTS: There were no differences among groups by educational level, but performance differed for age (p<0.01). No difference between healthy controls and aMCI patients was found on total scores or subitems of the BADS. A significant difference was observed between aMCI and AD patients (p<0.05) and between controls and AD patients (p<0.05) on total and standard scores. CONCLUSIONS: Performance on the BADS differed between healthy individuals and mild AD patients. The BADS proved to be a sensitive method for discriminating AD from aMCI.

Déficits executivos conjuntamente aos déficits de memória episódica caracterizam as fases iniciais da doença Alzheimer (DA) e se correlacionam clinicamente com sintomas neuropsiquiátricos e com prejuízo funcional. Pacientes com Comprometimento Cognitivo Leve apresentam mais problemas com controle inibitório de respostas, alternância e flexibilidade cognitiva. OBJETIVO: Comparar o desempenho na BADS e outros testes de funções executivas entre pacientes com demência Alzheimer de intensidade leve, comprometimento cognitivo leve tipo amnéstico (CCLa) e indivíduos controles e verificar a sensibilidade da BADS para discriminar CCL tipo amnéstico de DA. MÉTODOS: A BADS foi administrada a 35 indivíduos saudáveis, 13 pacientes com CCL amnéstico, e 16 pacientes com DA provável de intensidade leve. A avaliação consistiu da BADS e por avaliação neuropsicológica composta por: Escala de Avaliação de Demência(DRS), fluência verbal por categorias fonêmicas (F.A.S.) e o Teste de Atenção Concentrada (AC). RESULTADOS: Não houve diferença estatisticamente significativa entre os grupos quanto à escolaridade, mas houve diferença quanto à idade (p<0,01). Não houve diferença estatisticamente significativa entre indivíduos controles e pacientes com CCLa nos subtestes e nos escores totais da BADS. Houve diferença significativa entre pacientes com CCLa e pacientes com DA (p<0,05) e entre indivíduos controles e pacientes com DA (p<0,05) nos escores totais padronizados. CONCLUSÕES: Foram encontradas diferenças no desempenho na BADS entre indivíduos saudáveis e o grupo de pacientes com DA. A BADS mostrou-se sensível para discriminar diferenças de desempenho entre DA e CCLa.

Subjective memory complaints in the elderly: a sign of cognitive impairment?

OBJECTIVES: Cognitive impairment in the elderly is frequently overlooked by general practitioners. The use of subjective memory complaints as a sign of cognitive impairment by the general practice is controversial. METHODS: Elderly individuals (N = 248) were asked whether they had memory complaints and underwent a cognitive impairment screening. Subjects classified as exhibiting “probable cognitive impairment” underwent a complete cognitive evaluation, and the final diagnoses were established by expert consensus. RESULTS: A total of 147 patients presented with subjective memory complaints, and 43 were further classified as demented or “cognitively impaired not demented”. Subjective memory complaints presented a sensitivity of 100% and a negative predictive value of 100%. CONCLUSION: Subjective memory complaints are an indicator for cognitive impairment screening. .