186 research outputs found
Identificação de manifestações de wearing-off (redução do efeito da levodopa) em pacientes com doença de Parkinson utilizando questionário especÃfico e comparação dos resultados com avaliações ambulatoriais de rotina
This study had the objective to verify if the presence of wearing-off phenomenon in patients with Parkinson's disease (PD) could be better identified by the administration of the "Wearing-off Questionnaire Card" (QC). The participant patients were first evaluated by resident doctors in neurology and then invited to answer the QC for detection of motor and nonmotor wearing-off manifestations. Seventy and nine patients were enclosed in the study. The questionnaire revealed that 63 patients (80%) presented wearing-off, whereas the consultation by the resident doctors only identified 33 subjects (41%) with this phenomenon. The motor wearing-off manifestations were more frequent then the nonmotor. We conclude that the administration of the QC in patients with PD may be a useful tool for the diagnosis of wearing-off phenomena.Este estudo teve como objetivo verificar se a presença do fenômeno wearing-off em pacientes com doença de Parkinson pode ser melhor identificada pela aplicação do cartão questionário wearing-off (QC). Os pacientes participantes foram avaliados pelos médicos residentes em neurologia e depois foram convidados a responder as questões do QC para detecção das manifestações motoras e não motoras do wearing-off. O número de pacientes estudados foi de 79. O questionário revelou que 63 pacientes (80%) apresentaram wearing-off, enquanto que a consulta dos residentes identificou apenas 33 indivÃduos (41%) com este fenômeno. As manifestações motoras foram mais freqüentes do que as não motoras. Nós concluÃmos que a aplicação do QC em pacientes com doença de Parkinson pode ser uma ferramenta útil para o diagnostico do fenômeno wearing-off
Cognitive impairment and dementia in Parkinson's disease: clinical characteristics and treatment
BACKGROUND: Parkinson disease (PD) is a progressive illness of undetermined cause with characteristic motor findings that include rest tremor, rigidity, bradykinesia, and postural disturbance. But cognitive impairment is common even in nondemented. In addition PD has been associated with an increased risk of developing dementia. OBJECTIVES: This review provides an analysis of the cognitive impairment associated with PD, about its aspects, risk factors, pathophysiology, and treatment. METHODS: The current review incorporates articles obtained through Medline. RESULTS: Non-demented and demented patients with Parkinson's disease are impaired in several cognitive tasks. These impairments may be attributed to dysfunction the circuits connecting the frontal cortical regions and the basal ganglia. Mild cognitive dysfunctions may progress to dementia in some patients. Some risk factors for the development of dementia were identified and aspects of pathophysiology were disclosed. CONCLUSION: Neuropsychological profile of PD, which predominantly reflects frontal dysfunction, may be attributed to disruption of the frontoestriatal circuitry. But the pathophysiology underlying dementia in PD is not completely understood. Cholinesterase inhibitors and memantine have a modest effect against cognitive symptoms. Early detection of risk factors for development of dementia may help to create preventive strategies.CONTEXTO: A doença de Parkinson (DP) é uma moléstia progressiva de causa desconhecida, com caracterÃsticas motoras que incluem tremor de repouso, rigidez, bradicinesia e alterações posturais. Mas o comprometimento cognitivo é comum mesmo nos indivÃduos não dementes. Somando-se a isso, a DP associa-se a um aumento de risco de desenvolver demência. OBJETIVOS: Esta revisão analisa a perda cognitiva associada à DP, sobre seus aspectos, fatores de risco, fisiopatologia e tratamento. MÉTODOS: Esta revisão incorporou artigos obtidos pelo Medline. RESULTADOS: Pacientes com DP, com ou sem demência, têm desempenho reduzido em vários testes cognitivos. Essa redução cognitiva pode ser atribuÃda à disfunção dos circuitos conectores da região frontal aos núcleos da base. Distúrbio cognitivo leve pode progredir para demência em certos pacientes. Identificaram-se alguns fatores de risco para o desenvolvimento de demência e revelaram-se aspectos sobre a fisiopatologia. CONCLUSÃO: As caracterÃsticas neuropsicológicas da DP, as quais refletem predominantemente disfunção frontal, podem ser atribuÃdas a anormalidades do circuito fronto-estriatal. Mas a fisiopatologia responsável pela demência associada à DP não está completamente compreendida. Anticolinesterásicos e memantina têm um modesto efeito contra sintomas cognitivos. Detecção precoce dos fatores de risco para o desenvolvimento de demência pode ajudar a criar estratégias preventivas
Relação entre transtorno obsessivo-compulsivo e doenças neurológicas dos gânglios da base
O transtorno obsessivo-compulsivo (TOC) tem sido reportado em associação com algumas doenças neurológicas que afetam primariamente os gânglios da base como a sÃndrome de Tourette , a coréia de Sydenham, a doença de Parkinson e a doença de Huntington. Da mesma forma, estudos de neuroimagem sugerem a participação dos gânglios da base na fisiopatologia do TOC. O objetivo deste estudo é rever a coexistência de TOC e várias doenças que afetam os gânglios da base, as evidências da participação dessas estruturas na fisiopatologia do TOC e os mecanismos neurais subjacentes a esse distúrbio psiquiátrico.Obsessive-compulsive disorder (OCD) has been reported in association with some neurological diseases that affect the basal ganglia such as Tourette's syndrome, Sydenham's chorea, Parkinson's disease, and Huntington's disease. Furthermore, studies such as neuroimaging, suggest a role of the basal ganglia in the pathophysiology of OCD. The aim of this paper is to describe the association of OCD and several neurologic disorders affecting the basal ganglia, report the existing evidences of the role of the basal ganglia in the pathophysiology of OCD, and analyze the mechanisms probably involved in this pathophysiology
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Holmes Tremor Secondary to a Stabbing Lesion in the Midbrain
Background: The development of Holmes tremor (HT) after a direct lesion of the midbrain has rarely been reported in the literature, although several etiologies have been linked with HT, such as stroke, brainstem tumors, multiple sclerosis, head trauma, or infections.
Phenomenology Shown: A 31-year-old male, having been stabbed in the right eye, presented with a rest and action tremor in the left upper limb associated with left hemiparesis with corresponding post-contrast volumetric magnetic resonance imaging T1 with sagittal oblique reformation showing the knife trajectory reaching the right midbrain.
Educational Value: Despite the rarity of the etiology of HT in the present case, clinicians working with persons with brain injuries should be aware of this type of situation
Aplicando uma nova versão brasileira do UPSIT no Brasil
Standardized olfactory tests are now available to quantitatively assess disorders of olfaction. A Brazilian-Portuguese version of the University of Pennsylvania Smell Identification Test (UPSIT) is currently being developed specifically for the Brazilian population. The most recent Brazilian-Portuguese version of the UPSIT (UPSIT-Br2) was administered to 88 Brazilian subjects who had no history of neurological or otorhinolaryngological disease. UPSIT-Br2 scores decreased with age, were lower in men than in women, and were lower in subjects with lower income. The degree to which the poorer performance of subjects with lower socio-economic status reflects lack of familiarity with test items is not known. Although this version of the UPSIT provides a sensitive and useful test of smell function for the Brazilian population, a revision of some test items is needed to achieve comparable norms to those found using the North American UPSIT in the United States.Testes padronizados já estão disponÃveis para testagem do olfato e uma versão em Português esta sendo desenvolvida para o University of Pennsylvania Smell Identification Test (UPSIT), especificamente para a população brasileira. A versão mais recente deste teste (chamada UPSIT-Br2) foi aplicada a 88 sujeitos brasileiros que não tinham história de qualquer problema neurológico ou otorrinolaringológico. CompatÃvel com dados prévios da literatura, a performance no UPSIT-Br2 decaiu com a idade e foi inferior no genero masculino. Os resultados foram mais baixos em participantes de menor nÃvel sócio-econômico e a relação deste achado com a falta de familiaridade para com os itens do teste não é conhecida. Apesar desta versão do UPSIT poder ser útil para o teste da função olfativa da população brasileira, a revisão de alguns itens se faz necessária para alcançar valores comparáveis aos dados normativos norte-americanos.Reta Lila Weston Trust for Medical Researc
Use of Objective Outcomes Measures to Verify the Effects of ICF-Based Gait Treatment in Huntington's Disease Patient on Globus Pallidus Deep Brain Stimulation: A Case Report
In advanced stages of in Huntington's disease (HD) gait impairments and severe chorea are usually medication-refractory. The long-term effects on gait in HD of physiotherapy ICF-based management post- globus pallidus deep brain stimulation (GPi DBS) are not well-established. Physiotherapy has been recognized as an essential element in HD treatment. Here, we present a case report of a 56-year-old woman with HD on the advanced stage and severe chorea medication-refractory after GPi-DBS. We performed multidisciplinary motor assessments ICF-based to identify the disability at clinical and home-setting, including environmental and personal factors before and after GPi-DBS surgery and at 11-time points follow-up. The surgery was very successful and directly post GPi-DBS, there were a significant improvement in chorea and a substantial decrease in medication dose. A framework ICF- based physiotherapy protocol with external cues was developed to improve gait was delivered post-surgery and was continued three times/week during 18-months. Physiotherapy sessions consisted of a personalized protocol of exercises with functional movements, balance, and gait training with external cues. Improvements in gait were observed in 3-months post-intervention and were more expressive in 6-months follow-up. Our patient improved substantially HD motor symptoms and her quality of life after GPi-DBS intervention and a physiotherapy program ICF-based. The objective outcomes measures used to assess gait have served as endpoints to assessing the patient's motor profile during the pre-operative period. Assessments were helpful to verify the efficacy of the multidisciplinary intervention in long-term.ConclusionPeriodically assessing function and disability using outcome improvements may support clinicians' decisions about DBS, medication adjustments and guide physiotherapists to personalize the ICF-based intervention
A sÃndrome de tremor e ataxia associada ao X frágil (FXTAS)
FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS), the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease.A FXTAS (sÃndrome de tremor e ataxia associada ao X frágil) é uma doença neurodegenerativa de inÃcio tardio que afeta principalmente homens acima dos 50 anos de idade, portadores de pré-mutação do gene FMR1. A mutação completa desse gene é responsável pela sÃndrome do cromossomo X frágil (SXF), a causa mais comum de deficiência mental herdada. IndivÃduos afetados pela FXTAS geralmente apresentam tremor de intenção e ataxia de marcha que podem estar associados a sinais radiológicos ou neuropatológicos especÃficos. Outras caracterÃsticas comumente observadas são parkinsonismo, declÃnio cognitivo, neuropatia periférica e disfunções autonômicas. Quase uma década após sua caracterização clÃnica, a FXTAS é mal conhecida por médicos no Brasil. Esta revisão apresenta o conhecimento atual sobre os aspectos clÃnicos, genéticos e diagnósticos da sÃndrome.FAPESP - Center for the Study of Human Genom
Wilson's disease in southern Brazil: a 40-year follow-up study
BACKGROUND: Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period. METHODS: Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome. RESULTS: Examining the patients' continental origins showed that 74.5% had a European ancestor. The mean age at the initial symptom presentation was 23.3 ± 9.3 years, with a delay of 27.5 ± 41.9 months until definitive diagnosis. At presentation, hepatic symptoms were predominant (38.9%), followed by mixed symptoms (hepatic and neuropsychiatric) (30.6%) and neuropsychiatric symptoms (25%). Kayser-Fleischer rings were identified in 55.6% of patients, with a higher frequency among those patients with neuropsychiatric symptoms (77.8%). Eighteen patients developed neuropsychiatric features, most commonly cerebellar syndrome. Neuroradiological imaging abnormalities were observed in 72.2% of these patients. Chronic liver disease was detected in 68% of the patients with hepatic symptoms. 94.2% of all the patients were treated with D-penicillamine for a mean time of 129.9 ± 108.3 months. Other treatments included zinc salts, combined therapy and liver transplantation. After initiating therapy, 78.8% of the patients had a stable or improved outcome, and the overall survival rate was 90.1%. CONCLUSION: This study is the first retrospective description of a population of Wilson's disease patients of mainly European continental origin who live in southern Brazil. Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival
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