We describe the neurological manifestations of 119 patients with WD (93 index cases and 26 affected family members) seen between 1963 and 2004. The mean age at symptoms onset was 19.6 years (range, 7-37 years). Medical records were reviewed for the patient's first neurological examination. The most frequent neurological manifestations observed were dysarthria (91%), gait disturbance (75%), risus sardonicus (72%), dystonia (69%), rigidity (66%), tremor (60%), and dysphagia (50%). Less frequent manifestations were chorea (16%) and athetosis (14%). Rare neurological presentations were seizures (4.2%), and pyramidal signs (3%).

Somatosensory stimulation enhances aspects of motor function in patients with chronic, predominantly subcortical infarcts. We investigated the effects of somatosensory stimulation on motor function in stroke patients with predominantly cortical involvement in the middle cerebral artery territory in a double-blind, pseudorandomized crossover trial. Motor performance was evaluated with the Jebsen-Taylor test before, after 2-hour somatosensory stimulation, and after subsequent motor training (n=11). In one experimental session, patients were submitted to median nerve stimulation (MNS) and in the other session, to control stimulation (CS). The order of the sessions was counterbalanced across patients. Improvement in performance in the Jebsen-Taylor test after somatosensory stimulation and after motor training was significantly greater in the MNS session than in the CS session. Additionally, patients who received MNS in the second session maintained the beneficial effects of training 30 days later. A single MNS session improves hand motor function in patients with chronic cortico-subcortical strokes and appears to favor consolidation of training effects. Somatosensory stimulation may be an adjuvant tool for stroke rehabilitation in patients with cortical lesions.

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...

ObjectiveLittle is known about the relevance of lesion in neural circuits reported to be associated with major depressive disorder. We investigated the association between lesion stroke size in the limbic-cortical-striatal-pallidal-thalamic (LCSPT) circuit and incidence of major depressive episode (MDE).MethodsWe enrolled 68 patients with first-ever ischemic stroke and no history of major depressive disorder. Neurological and psychiatric examinations were performed at three time-points. We diagnosed major depressive episode, following DSM-IV criteria. Lesion location and volume were determined with magnetic resonance imaging, using a semi-automated method based on the Brodmann Cytoarchitectonic Atlas.ResultsTwenty-one patients (31%) experienced major depressive episode. Larger lesions in the left cortical regions of the LCSPT circuit (3,760 vs. 660 mm3; P = 0.004) were associated with higher incidence of MDE. Secondary analyses revealed that major depressive episode was associated with larger lesions in areas of the medial prefrontal cortex including the ventral (BA24) and dorsal anterior cingulate cortex (BA32) and subgenual cortex (BA25); and also the subiculum (BA28/36) and amygdala (BA34).ConclusionsOur findings indicate that depression due to stroke is aetiologically related to the disruption of the left LCSPT circuit and support the relevance of the medial prefrontal cortex dysfunction in the pafhophysiology of depression.

July 1, 1997 was stipulated as the day for estimating the prevalence of multiple sclerosis within the city of São Paulo. The patients were identified via various sources, including associated universities and magnetic resonance services of the city of São Paulo. The area covered by the study has a population of 9,380,000, mainly white and of European origin, with a large number of immigrants from Spain and Portugal. The patients were classified in accordance with the criteria of Poser et al. (1983), and only those with defined multiple sclerosis were registered. The study gave a prevalence of 15.0/10(5) inhabitants, or three times the value obtained in a similar study in 1990. This increase reveals the larger number of cases encompassed by the study, and is attributed to the use of more detailed recording methods, improvements in diagnosis, and better conditions for treatment.

-Status Dystonicus (SD) is characterized by generalized muscle contractions in dystonic patients. We report 5 cases of SD, two of which in patients with dystonic cerebral palsy, one in a patient with primary segmental dystonia, one in a patient with Hallervorden-Spatz syndrome and one in a patient with Wilson's disease (WD). Three patients were admitted to an intensive care unit and treated with propofol and midazolam, and two were submitted to neurosurgical procedures (bilateral pallidotomy and bilateral pallidal deep brain stimulation). Triggering factors were identified in three patients as follows: infection, stress-induced and zinc therapy for WD. On follow-up, two patients presented with significant improvement of dystonia, whereas the other three cases the clinical picture ultimately returned to baseline pre-SD condition.

SummarySeveral recent studies have analyzed a possible effect of thrombophilia risk factors such as factor V Leiden, the prothrombin variant (allele 20210 A), and homozygosity for thermolabile methylenetetrahydrofolate reductase (MTHFR-T) on the development of ischemic stroke (IS). In the present study, we determined the role of these prothrombotic polymorphisms in the early onset of arterial IS or cerebral venous thrombosis (CVT) in a group of young Brazilian adults of Caucasian and African descent.We conducted a cross-sectional study of 167 survivors of IS (153 patients with arterial IS and 14 cases of CVT; 66 men: 101 women; 124 of Caucasian and 43 of African origin; median age: 32.6 years; range: 15 to 45 years) and compared the prevalence of inherited thrombophilia risk factors with a control group of 225 sex and age matched individuals of the same ethnic background. To determine the interaction with atherogenic risk factors, the following diagnoses were considered: hypertension, hyperlipoproteinemia, diabetes mellitus, smoking status and use of oral contraceptives.In the arterial IS group, no significant variation was found between patients and controls of Caucasian origin regarding the prevalence of factor V Leiden (P = 0.92), the prothrombin variant (P = 0.13) or homozygosity for MTHFR-T (P = 0.61). Among Brazilians of African descent, 10.3%were homozygous for MTHFR-T, which was significantly elevated, odds ratio of 5.9 (95%CI: 0.88 to 49.15). In the CVT group, two Caucasian patients (20%) were heterozygous for the prothrombin variant, odds ratio of 9.7 (95%CI: 0.95 to 89.71) and one patient was carrier of factor V Leiden (P = 0.49). No prothrombotic polymorphism was identified in patients with CVT of African descent. All women in the CVT group were in use of oral contraceptives or in the post-partum stateInherited thrombophilia risk factors were not found to increase the risk of arterial IS among young patients of Caucasian descent. However, a potential role of homozygosity for MTHFR-T was observed in a small group of patients of African origin. The analysis of patients with CVT revealed an increased risk due to the prothrombin gene variant or oral contraceptive use. Further studies including all incoming patients with IS are necessary to evaluate the impact of inherited thrombophilia risk factors on early mortality.

OBJECTIVE:Impairments in balance can be a consequence of changes in the motor, sensory, and integrative aspects of motor control. Abnormal sensory reweighting, i.e., the ability to select the most appropriate sensory information to achieve postural stability, may contribute to balance impairment. The Sensory Organization Test is a component of Computerized Dynamic Posturography that evaluates the impact of visual, vestibular, and somatosensory inputs, as well as sensory reweighting, under conditions of sensory conflict. The aim of this study is to compare balance control in hemiparetic patients during the first year post-stroke and in age-matched neurologically normal subjects using the Berg Balance Scale and Computerized Dynamic Posturography.METHODS:We compared the Berg Balance Scale and Sensory Organization Test scores in 21 patients with hemiparesis after first-ever ischemic stroke and in 21 age-matched, neurologically normal subjects. An equilibrium score was defined for each Sensory Organization Test condition.RESULTS:Berg Balance Scale scores were significantly lower in the patients than in the neurologically normal subjects. Equilibrium scores were significantly lower in the patients than in the neurologically normal subjects for those Sensory Organization Test conditions that did not provide appropriate somatosensory information and under conditions of sensory conflict. A history of falls was more frequent in patients with lower equilibrium scores.CONCLUSION:During the first year after a stroke, defective sensory reweighting significantly impacts balance control in hemiparetic patients. These results are important for the planning of effective rehabilitation interventions.