Atrofia da medula espinhal na ataxia espinocerebelar do tipo 1

Universidade Federal de São Paulo (UNIFESP) Setor de Neurologia Geral e Ataxias Departamento de Neurologia e NeurocirurgiaUNIFESP, Setor de Neurologia Geral e Ataxias Depto. de Neurologia e NeurocirurgiaSciEL

As contribuicoes de Babinski para os sinais cerebelares: construindo as bases do exame neurologico

Several assumptions about the function of the cerebellum and semiotic signs have been described over the centuries. Among the long list of famous researchers who have provided a strong contribution and who have left their names on the highway of cerebellar research, Joseph Babinski appears as a prominent name. The description of various forms of cerebellar symptomatology was a major part of Babinski's work, and clinical terms that he introduced, namely hypermetry , diadochokinesia , and asynergy , remain part of contemporary clinical vocabulary. Babinski studied cerebellar signs in many patients and was able to conduct longitudinal studies that permitted him to understand the evolution of cerebellar dysfunction. Babinski contributions to cerebellar symptomatology continue to influence the most modern theories, including functional and neuropathological studies.Diversas teorias sobre a função do cerebelo e a semiologia dos sinais cerebelares têm sido descritas ao longo dos séculos. Dentre a longa lista de pesquisadores renomados que apresentaram importantes contribuições nesse assunto e que deixaram seus nomes na história, Joseph Babinski aparece com destaque. A descrição dos mais variados sintomas e sinais cerebelares foi peça importante do trabalho de Babinski e algumas nomenclaturas introduzidas por ele, tais como hipermetria , disdiadococinesia e assinergia , continuam a fazer parte do vocabulário contemporâneo. Babinski estudou os sinais cerebelares em muitos pacientes e foi capaz de realizar pesquisas que lhe permitiram compreender a disfunção cerebelar. As contribuições de Babinski para a caracterizar a sintomatologia cerebelar continuam a influenciar as teorias mais modernas, a despeito de estudos funcionais e neuropatológicos.Universidade Federal de São Paulo (UNIFESP) Setor de Neurologia Geral e Ataxias Departamento de Neurologia e NeurocirurgiaRush University Medical Center Department of Neurological SciencesUNIFESP, Setor de Neurologia Geral e Ataxias Depto. de Neurologia e NeurocirurgiaSciEL

Facial grimacing como pista para o diagnóstico de gangliosidose GM1 tipo 3

Universidade Federal de São Paulo (UNIFESP) Departamento de Neurologia e Neurocirurgia Ambulatório de Neurologia GeralUNIFESP, Depto. de Neurologia e Neurocirurgia Ambulatório de Neurologia GeralSciEL

Brain SPECT imaging in Sydenham's chorea

The objective of the present study was to determine whether brain single-photon emission computed tomography (SPECT) imaging is capable of detecting perfusional abnormalities. Ten Sydenham's chorea (SC) patients, eight females and two males, 8 to 25 years of age (mean 13.4), with a clinical diagnosis of SC were submitted to brain SPECT imaging. We used HMPAO labeled with technetium-99m at a dose of 740 MBq. Six examinations revealed hyperperfusion of the basal ganglia, while the remaining four were normal. The six patients with abnormal results were females and their data were not correlated with severity of symptoms. Patients with abnormal brain SPECT had a more recent onset of symptoms (mean of 49 days) compared to those with normal SPECT (mean of 85 days) but this difference did not reach statistical significance. Brain SPECT can be a helpful method to determine abnormalities of the basal ganglia in SC patients but further studies on a larger number of patients are needed in order to detect the phase of the disease during which the examination is more sensitive.Universidade Federal de São Paulo (UNIFESP) Departamento de Neurologia Setor de Distúrbios do MovimentoUniversidade Federal de São Paulo (UNIFESP) Departamento de Diagnóstico por Imagem Setor de Medicina NuclearUNIFESP, Depto. de Neurologia Setor de Distúrbios do MovimentoUNIFESP, Depto. de Diagnóstico por Imagem Setor de Medicina NuclearSciEL

Sinal da cruz mimetizando atrofia de multiplos sistemas em um paciente com doenca de Machado-Joseph

Universidade Federal de São Paulo (UNIFESP) Department of Neurology Ataxia UnitUniversidade Federal de São Paulo (UNIFESP) Department of RadiologyDelboni Auriemo, Diagnosticos da AmericaUNIFESP, Department of Neurology Ataxia UnitUNIFESP, Department of RadiologySciEL

Multiple system atrophy speech assessment: study of five cases

Multiple system atrophy (MSA) is characterized by parkinsonian, cerebellar and pyramidal features along with autonomic dysfunction in different combinations. Onset of dysarthria during the first year of the manifestation of a parkinsonian syndrome suggests the diagnosis of MSA. The aim of this study was to characterize the voice and the speech of patients with MSA. We studied five MSA patients with a mean age of 51.2 years. Each patient was submitted to a neurological and a specific speech and voice assessment. The latter consisted of the following: clinical interview, myofunctional examination, and perceptual speech evaluation. Speech and voice complaints occurred at an average time of 1.1 year after the onset of the motor symptomatology. All MSA patients had the mixed type of dysarthrophonia, where hypokinetic, ataxic and spastic components were seen in each of the patients, although hypokinetic component predominated among the others. Our findings are different from what is commonly seen in Parkinson's disease in which hypokinetic component is the only abnormal finding. We think that specific speech and voice assessment is important to establish the diagnosis and to choose the best management of MSA patients.A atrofia de múltiplos sistemas (AMS) é caracterizada pela presença de sinais parkinsonianos, cerebelares, autonômicos e piramidais, em várias combinações. O aparecimento de disartria e disfagia no primeiro ano de manifestação de parkinsonismo, sugere o diagnóstico de AMS. O objetivo deste estudo foi o de caracterizar do ponto de vista fonoaudiológico os distúrbios da fala e da voz dos pacientes com AMS. Foram selecionados cinco pacientes, com idade média de 51,2 anos e com diagnóstico provável de AMS. Cada paciente foi submetido a avaliação neurológica e fonoaudiológica. Esta última foi composta dos seguintes itens: anamnese; avaliação miofuncional e avaliação perceptivo-auditiva da fala. Os sintomas de fala e voz apareceram 1,1 ano após o início dos sintomas motores e a disartrofonia apresentada por todos os pacientes foi a do tipo mista, mesclando os componentes hipocinético, atáxico e espástico, com predomínio do primeiro. Nossos achados são diferentes daqueles comumente vistos em pacientes com a doença de Parkinson, onde o componente hipocinético é o único achado. Os dados levantados indicam que a avaliação fonoaudiológica é importante no diagnóstico diferencial e no planejamento terapêutico da AMS.Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Disciplina de NeurologiaUNIFESP, EPM, Disciplina de NeurologiaSciEL

Neuropatia sensitiva trigeminal associada com esclerose sistêmica: relato de três casos brasileiros

Federal University of São Paulo Department of NeurologyUNIFESP, Department of NeurologySciEL