RESUMO -Os desempenhos em testes neuropsicológicos de trinta pacientes, com diagnóstico de demência leve ou moderada baseado nos critérios do DSM-III-R, com escore no Mini-exame do Estado Mental inferior a 24 pontos e escolaridade mínima de 4 anos, foram comparados aos de trinta voluntários normais equiparados quanto a idade, escolaridade e sexo. Foram calculadas as sensibilidades e especificidades dos testes na distinção entre doentes e controles normais Dentre os testes empregados, o que demonstrou maior acurácia nesta distinção, calculada através de curva ROC, foi o de informação-memória-concentração de Blessed, seguido em ordem decrescente de acurácia, pelos de construção (cópias de figuras simples), memória verbal tardia (após 5 minutos), reconhecimento de 10 figuras e fluencia verbal (animais). Seis testes de aplicação e interpretação simples (fluencia verbal, percepção visual, memória visual incidental, cálculo, desenho de um relógio e memória tardia após 5 minutos) permitiram definir função linear discriminante que revelou elevada capacidade de discriminação entre pacientes e controles, na amostra. Esta função deve ser submetida à comprovação em outra casuística. Em virtude da simplicidade e rapidez de aplicação, poderá ser associada ao MEM para identificar indivíduos com demência e indivíduos sadios em estudos epidemiológicos. PALAVRAS-CHAVE: demência, avaliação, testes neuropsicológicos.Brief and easy-to-administer neuropsychological tests in the diagnosis of dementia SUMMARY -Thirty patients with dementia defined by DSM-III-R criteria (Alzheimer's disease (22), vascular dementia (3), Parkinson's disease, frontal lobe dementia, possible diffuse Lewy body dementia, normal pressure hydrocephalus and uncertain diagnosis), with scores below 24 points in the Mini-Mental Status Examination and more than 4 years of education were submitted to a neuropsychological evaluation. The scores in the neuropsychological tests were compared to those obtained by thirty normal volunteers paired for age, sex and education. Sensivity, specificity and accuracy of the tests in the distinction of demented and normal volunteers were determined. The accuracies were calculated using ROC curves. Blessed's information-memory-concentration test showed greatest accuracy, followed by copy of simple figures, delayed memory of 10 figures (after 5 minutes), recognition of 10 figures and verbal fluency test (animals). A linear discriminant function, composed by 6 tests: visual perception, incidental memory, delayed memory (after 5 minutes), drawing of a clock, verbal fluency (animals) and calculation tests, was able to discriminate all controls from patients and only one patient was wrongly classified as normal control. These tests were chosen because they can be applied in less than 10 minutes and are very easy to interpret. This discriminant function must be applied in another group of patients and controls in order to demonstrate its value. When associated to the MMSE it may be useful to discriminate patients with dementia from normal...

Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies include stiff-person syndrome (SPS) and its variants -stiff trunk syndrome, stiff limbs syndrome, progressive encephalomyelitis with rigidity, SPS-plus and paraneoplastic SPS -as well as epilepsy and ataxia [1][2][3][4][5][6][7][8] . These syndromes are often found in association with other autoimmune disorders, such as diabetes mellitus, in more than one thirds of all cases, and, less commonly, those caused by antithyroid, antinuclear and antiparietal cell antibodies (5-10%) [1][2][3][9][10][11][12][13] . GAD is a cytoplasmic enzyme that accelerates the conversion of glutamic acid to gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter present in the brain and spinal cord. GAD is synthesized mainly in presynaptic GABAergic neurons in the central nervous system and in the b cells in the islets of Langerhans in the pancreas. GAD autoantibodies are found in around 60 to 80% of SPS cases. Although there are two GAD isoforms ¾ GAD65 and GAD67 ¾ the main target for GAD autoantibodies in SPS is GAD65 [9][10][11][12][13][14] . The pathogenetic role of autoantibodies in SPS is unclear. However, all SPS autoantigens identified to date are synaptic proteins involved in inhibitory synaptic transmission, such as GAD and amphiphysin (presynaptic antigens) and GABA(A) receptor-associated protein (GABARAP) and gephyrin (postsynaptic antigens). The autoantibodies anti-amphiphysin and anti-gephyrin have been linked to paraneoplastic SPS [9][10][11][12][13][14][15] . The objective of this study was to present the clinical and laboratory findings of 12 patients with neurological disorders associated with anti-GAD antibodies. ABSTRACT Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, two diabetes mellitus and two axial myoclonus.

The alien hand syndrome (AHS) usually consists of an autonomous motor activity perceived as an involuntary and purposeful movement, with a feeling of foreignness of the involved limb, commonly associated with a failure to recognise ownership of the limb in the absence of visual clues. It has been described in association to lesions of the frontal lobes and corpus callosum. However, parietal damage can promote an involuntary, but purposeless, hand levitation, which, sometimes, resembles AHS. In the present study, four patients (cortico-basal ganglionic degeneration n=2; Alzheimer s disease n=1 and parietal stroke n=1) who developed alien hand motor behaviour and whose CT, MRI and/or SPECT have disclosed a major contralateral parietal damage or dysfunction are described. These results reinforce the idea that parietal lobe lesions may also play a role in some patients with purposeless involuntary limb levitation, which is different from the classic forms of AHS.KEY WORDS: alien hand syndrome, parietal lobe, Alzheimer s disease, cortico-basal ganglionic degeneration.Movimento involuntário de levitação da mão associado a lesão parietal: uma variante da síndrome da mão alienígena RESUMO A síndrome da mão alienígena (SMA) geralmente consiste de uma atividade motora autônoma involuntária e aparentemente proposital, acompanhada de uma sensação de estranheza em relação ao membro afetado, muitas vezes associada a uma dificuldade em reconhecê-lo na ausência de pistas visuais. Tal síndrome vem sendo descrita em associação a lesões dos lobos frontais e corpo caloso. No entanto, lesões parietais podem promover um quadro de movimento involuntário de levitação da mão, aparentemente desproposital, mas que por vezes lembra uma SMA. No presente estudo, quatro pacientes (degeneração ganglionar córtico-basal n=2; doença de Alzheimer n=1 e infarto parietal n=1) que desenvolveram tal quadro clínico e cujos estudos de TC, RM e SPECT revelaram um maior dano parietal contralateral, são descritos. Os dados encontrados reforçam a teoria que lesões parietais podem representar algum papel na gênese da levitação involuntária e desproposital da mão, a qual deve ser diferenciada das formas clássicas da SMA. PALAVRAS-CHAVE: síndrome da mão alienígena, lobo parietal, doença de Alzheimer, degeneração ganglionar córtico-basal.

-Objective:To compare the clinical features of a familial prion disease with those of frontotemporal dementia and parkinsonism linked to chromosome 17 . Background: Prion diseases are not usually considered in the differential diagnosis of FTDP-17, since familial Creutzfeldt-Jakob disease (CJD), the most common inherited prion disease, often manifests as a rapidly progressive dementia. Conversely, FTDP-17 usually has an insidious onset in the fifth decade, with abnormal behavior and parkinsonian features. Method: We present the clinical features of 12 patients from a family with CJD associated with a point mutation at codon 183 of the prion protein gene. Results: The mean age at onset was 44.0 ± 3.7; the duration of the symptoms until death ranged from two to nine years. Behavioral disturbances were the predominant presenting symptoms. Nine patients were first seen by psychiatrists. Eight patients manifested parkinsonian signs. Conclusion: These clinical features bear a considerable resemblance to those described in FTDP-17.KEY WORDS: prion protein mutation, prion disease, Creutzfeldt-Jakob disease, frontotemporal dementia, parkinsonism. Doença priônica com características clínicas semelhantes à demência frontotemporal e parkinsonismo associada ao cromossoma 17.RESUMO -Objetivo: comparar as características clínicas de doença priônica com as da demência frontotemporal e parkinsonismo associada ao cromossoma 17 (FTDP-17). Fundamentos: doenças priônicas não são usualmente incluídas no diagnóstico diferencial da FTDP-17 porque a doença de Creutzfeldt-Jakob (DCJ), a mais comum entre as doenças priônicas hereditárias, frequentemente manifesta-se como demência rapidamente progressiva. Por outro lado, a FTDP-17 apresenta-se insidiosamente na quinta década, com alterações do comportamento e sinais parkinsonianos. Método: apresentamos as características clínicas de 12 membros de uma família com DCJ associada à mutação de ponto no codon 183 do gene da proteína priônica. Resultados: os sintomas iniciaram-se aos 44.0 ± 3.7 anos e a duração até o óbito foi de dois a cinco anos. Alterações do comportamento foram os sintomas iniciais mais frequentes. Nove pacientes foram atendidos inicialmente por psiquiatras. Oito pacientes manifestaram sinais parkinsonianos. Conclusão: as características clínicas apresentam considerável semelhança com as descritas na FTDP-17. PALAVRAS-CHAVE: mutação da proteína priônica, doença priônica, doença de Creutzfeldt-Jakob, demência frontotemporal, parkinsonismo.

Marchiafava-Bignami disease is a rare affliction characterized by primary degeneration of the corpus callosum associated with chronic consumption of ethanol. The disease may occasionally occur in patients who are not alcoholics but are chronically malnourished. A complex deficiency of group B vitamins is the main etiopathogenic hypothesis, and many patients improve after the administration of these compounds. However, a good response is not always observed. The definitive diagnosis of Marchiafava-Bignami disease can be problematic and is based on features of neuroimaging studies, especially magnetic resonance imaging. Its treatment is still controversial and shows variable results. Because nutritional factors are implicated, as in Wernicke's encephalopathy, some authors claim that replacement of B vitamins is beneficial. The present article is a case report of a severe acute form of Marchiafava-Bignami disease in an alcohol-dependent male patient who improved after the administration of parenteral B vitamins. As a consequence of his neurological and immunologic conditions, he developed multiple pulmonary infections and had a protracted course in the intensive care unit. He eventually died of sepsis associated with an uncommon fungus, Rhodotorula mucilaginosa. The present article reports the clinical and neuroimaging data from this patient and contains a review of Marchiafava-Bignami disease and Rhodotorula infections in the intensive care unit.

No abstract

-Progressive supranuclear palsy (PSP) is an uncommon disorder characterized by marked postural instability, vertical gaze abnormalities and axial rigidity. The purpose of this study is to report the clinical features of 16 consecutive subjects seen over a 10-year period at a Movement Disorders Clinic. These subjects fulfilled criteria for probable PSP namely those of the National Institute of Neurologic Disorders and Stroke (NINDS) and the Society for PSP (SPSP). This patient-group represented 2.1% of all degenerative parkinsonians observed and the mean age of onset of the disease was 64.7 years (sd = ± 7.2). Postural instability with falls was the most frequent initial feature presented in PSP patients (62.5%). The hallmark of the disease, the supranuclear vertical gaze palsy, appeared after 2.3 years of disease onset, and only 12.5% had such manifestation at the first evaluation. Transient tremor was observed with a relatively high frequency in this group (44%), but only 19% had rest tremor. Chronic dacryocystitis, probably related to a paucity of blinking, was observed in two patients as an inaugural manifestation. In the first evaluation, only 19% of the 16 patients were diagnosed as probable PSP. The mean interval prior to the final diagnosis was 2.4 years.KEY WORDS: progressive supranuclear palsy, parkinsonism, movement disorders, chronic dacryocystitis.Paralisia supranuclear progressiva em uma amostra da população brasileira: aspectos clínicos de 16 pacientes RESUMO -A paralisia supranuclear progressiva (PSP) é entidade incomum, caracterizada por severa instabilidade postural, anormalidades do olhar conjugado vertical e rigidez axial. O propósito desse estudo é apresentar os aspectos clínicos de 16 pacientes consecutivamente atendidos em período de 10 anos em uma unidade especializada no atendimento de movimentos anormais. Tais pacientes preencheram os critérios para diagnóstico de PSP provável, de acordo com aqueles recomendados pelo NINDS (EUA) e pela SPSP. O grupo representou 2,1% de todos os casos de parkinsonismo degenerativo atendidos naquele período. O início das primeiras manifestações se deu, em média, aos 64,7 anos (± 7,2). Instabilidade postural inaugurou o quadro na maioria dos casos (62,5%) e a manifestação mais característica da doença, a paralisia supranuclear vertical do olhar conjugado, esteve presente inicialmente em apenas 12,5%. Ela só foi observada após 2,3 anos, em media, de evolução da moléstia. Tremor transitório foi observado com frequencia relativamente alta (44%), porém apenas 19% apresentavam tremor de repouso. Sintomas iniciais sugestivos de dacriocistite crônica, provavelmente relacionada à pobreza de piscamento, foram observados em 2 casos. Na primeira avaliação, somente 19% dos pacientes foram diagnosticados como PSP provável e o intervalo médio para esse diagnóstico final foi 2,4 anos. PALAVRAS-CHAVES: paralisia supranuclear progressiva, parkinsonismo, desordens do movimento, dacriocistite crônica.

Parkinson’s disease (PD) promotes burden among patients and caregivers.Objective:To analyze whether disease severity (UPDRS and Karnofsky index), total disease duration, patient cognitive status (MMSE), presence of other diseases, patient age, socioeconomic conditions (ABEP2015), living together with patient, total time caregiving, weekly hours of care and presence of assistance from other caregivers are correlated with, and influence statistically, the degree of caregiver burden measured by the Zarit Burden Interview (ZBI).Methods:After ethics Committee approval, patients and respective caregivers were recruited. Following evaluation with the proper scales, all data were submitted to Pearson’s correlation method and multivariate linear regression analysis (ANOVA).Results:A total of 21 patients and respective caregivers were evaluated. 72% (N=15) of caregivers reported burden. One third of caregivers reported a moderate or severe level of burden. A cause-effect relationship could not be established by the statistical method adopted, but disease severity measured by the UPDRS was the sole variable showing statistically significant moderate positive Pearson’s correlation with ZBI (r=0.48, for p<0.05). On ANOVA, however, no independent variable had a statistically significant impact on ZBI scores.Conclusion:Despite our conflicting results, optimization of the available treatment, with better control of PD severity, can be considered an important element to effectively achieve the goal of reducing burden among caregivers.