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Deep brain stimulation (DBS) is recognized as an established therapy for Parkinson's disease (PD) and other movement disorders in the light of the developments seen over the past three decades. Long-term efficacy is established for PD with documented improvement in the cardinal motor symptoms of PD and levodopa-induced complications, such as motor fluctuations and dyskinesias. Timing of patient selection is crucial to obtain optimal benefits from DBS therapy, before PD complications become irreversible. The objective of this first part review is to examine the fundamental concepts of DBS for PD in clinical practice, discussing the historical aspects, patient selection, potential effects of DBS on motor and non-motor symptoms, and the practical management of patients after surgery.

The field of neuromodulation has evolved significantly over the past decade. Developments include novel indications and innovations of hardware, software, and stimulation techniques leading to an expansion in scope and role of these techniques as powerful therapeutic interventions. In this review, which is the second part of an effort to document and integrate the basic fundamentals and recent successful developments in the field, we will focus on classic paradigms for electrode placement as well as new exploratory targets, mechanisms of neuromodulation using this technique and new developments, including focused ultrasound driven ablative procedures.

Background Therapeutic adherence is a decisive issue on chronic disease management in patients requiring long-term pharmacotherapy, such as Parkinson's disease (PD). Although it is well known that socioeconomic factor is a barrier to medication adherence in many chronic diseases, its impacts on PD still need to be investigated.

ABSTRACT Parkinson’s disease (PD) is a common neurodegenerative disease associated with cognitive impairment. The Montreal Cognitive Assessment (MoCA) has been used as a recommended global cognition scale for patients with PD, but there are some concerns about its application, partially due to the floor and ceiling effects. Objective: To explore the floor and ceiling effects on the MoCA in patients with PD in Brazil. Methods: Cross-sectional study with data from patients with PD from five Brazilian Movement Disorders Clinics, excluding individuals with a possible diagnosis of dementia. We analyzed the total score of the MoCA, as well as its seven cognitive domains. The floor and ceiling effects were evaluated for the total MoCA score and domains. Multivariate analyses were performed to detect factors associated with floor and ceiling effects. Results: We evaluated data from 366 patients with PD and approximately 19% of individuals had less than five years of education. For the total MoCA score, there was no floor or ceiling effect. There was a floor effect in the abstraction and delayed memory recall domains in 20% of our sample. The ceiling effect was demonstrated in all domains (80.8% more common in naming and 89% orientation), except delayed recall. Education was the main factor associated with the floor and ceiling effects, independent of region, sex, age at evaluation, and disease duration. Conclusion: The floor and ceiling effects are present in specific domains of the MoCA in Brazil, with a strong impact on education. Further adaptations of the MoCA structure for underrepresented populations may reduce these negative effects.

Introduction: Parkinson’s disease, a neurodegenerative disease, involves motor and nonmotor components. Vision, a nonmotor component, has been studied by the analysis of the retinal layers by optical coherence tomography (OCT), and the main finding is the thinning of the retinal nerve fiber layer (RNFL). The aim of this study was to verify the influence of age on the thickness of retinal nerve fiber in patients with mild-to-moderate stages of Parkinson’s disease. Materials and Methods: Healthy individuals and patients with Parkinson’s disease were included in this prospective, cross-sectional, and observational study. The patients were recruited according to the clinical criteria from the neurology clinic of two major hospitals, with the description of the Hoehn and Yahr scale score. Healthy subjects were recruited from the general clinic and hospital staff. A comprehensive ophthalmic examination was performed previously on the spectral-domain OCT. Results: There was a significant effect of age in the thickness of the RNFL in patients with Parkinson’s disease, in the right eye in the lower quadrant (P = 0.026) and in the left eye in the upper (P = 0.029) and temporal (P = 0.037) quadrants, as well in the control group in the upper (P = 0.003) and lower quadrant (P = 0.024). Conclusions: This case series could demonstrate that in mild-to-moderate stages of the Hoehn and Yahr Scale, there is an asymmetric correlation between aging and the decrease in superior, inferior, and temporal RNFL between the eyes of patients with Parkinson’s disease, and this finding precedes the decrease in visual acuity.

Background Spontaneous intracranial hypotension (SIH) is a secondary cause of headache and an underdiagnosed disease. The clinical presentation can be highly variable. It typically presents with isolated classic orthostatic headache complaints, but patients can develop significant complications such as cerebral venous thrombosis (CVT). Objective To report 3 cases of SIH diagnosis admitted and treated in a tertiary-level neurology ward. Methods Review of the medical files of three patients and description of clinical and surgical outcomes. Results Three female patients with SIH with a mean age of 25.6 ± 10.0 years old. The patients had orthostatic headache, and one of them presented with somnolence and diplopia because of a CVT. Brain magnetic resonance imaging (MRI) ranges from normal findings to classic findings of SIH as pachymeningeal enhancement and downward displacement of the cerebellar tonsils. Spine MRI showed abnormal epidural fluid collections in all cases, and computed tomography (CT) myelography could determine an identifiable cerebrospinal fluid (CSF) leak in only one patient. One patient received a conservative approach, and the other two were submitted to open surgery with laminoplasty. Both of them had uneventful recovery and remission in surgery follow-up. Conclusion The diagnosis and management of SIH are still a challenge in neurology practice. We highlight in the present study severe cases of incapacitating SIH, complication with CVT, and good outcomes with neurosurgical treatment.

RESUMO A demência da doença de Parkinson (DDP) e a demência com corpos de Lewy (DCL) representam a segunda causa mais comum de demência neurodegenerativa em pessoas com mais de 65 anos, ocasionando progressivo declínio cognitivo e comprometimento da qualidade de vida. O presente estudo tem como objetivo prover um consenso de especialistas sobre a DDP e DCL, baseado em revisão sistemática da literatura brasileira e revisão não-sistemática de literatura internacional. Ademais, tal estudo visa promover informação e conceder recomendações sobre abordagem diagnóstica, com foco nos níveis de atenção primária e secundária em saúde. Com base nos dados disponíveis, recomendamos que os profissionais realizem pelo menos um breve instrumento cognitivo global, como o Mini-Exame do Estado Mental, contudo de preferência optem pela Avaliação Cognitiva de Montreal e o Exame Cognitivo de Addenbrooke-Revisado. Observa-se uma carência de instrumentos validados para a avaliação precisa das habilidades funcionais em pacientes brasileiros com DDP e DCL. Além disso, mais estudos focando em biomarcadores com coortes brasileiras também são necessários.

ABSTRACT Background: Neurological disorders are significant causes of morbidity and mortality worldwide. However, data about general neurological inpatient admissions in Brazil is limited. Objective: To investigate the prevalence of neurological disorders according to disease group and lesion site among patients admitted to a general Neurology ward. Methods: This was an observational and descriptive study. The hospital discharge database for the Neurology ward was surveyed in accordance with the International Classification of Diseases, 10th edition (ICD-10), from September 2008 to October 2019. The final diagnosis was classified into neurological disorder groups and site. Results: Overall, 2,606 clinical neurological patient files were included, with mean length of hospitalization of 16.7 days and a total of 325 readmissions (12.5%). The overall mortality rate in the ward was 3.8% (100 patients). Among all the diagnoses, cerebrovascular disease was the most prevalent (45.8%), followed by inflammatory disorders (22.2%). The brain was the most common lesion site (66.0%), followed by peripheral nerves (10.0%) and meninges and cerebrospinal fluid (7.7%). Conclusions: The disease pattern upon admission showed that a majority of the cases consisted of cerebrovascular disorders and that the brain was the most frequently affected structure, although we observed that a wide variety of cases were admitted, encompassing all neurological disorders.

Objective: This study analyzed the influence of subthalamic nucleus deep brain stimulation (DBS) in motor parameters and patients' quality of life with Parkinson's disease (PD) evaluated before and after 12 months of the surgical procedure. Methods: A cohort of 20 patients with PD who underwent DBS implantation in the subthalamic nucleus was included. Pre and on-DBS postoperative data in on and off-medication periods related to motor functions and quality of life, from the application of validated scales, were collected to verify possible relationships between changes in these parameters and the surgical procedure. Results: A significant decrease in the Hoehn and Yahr scale disease stage and in the levodopa equivalent dose (p

ABSTRACT The treatment of Parkinson's disease (PD) is challenging, especially since it is considered highly individualized. The Brazilian Academy of Neurology has recognized the need to disseminate knowledge about the management of PD treatment, adapting the best evidence to the Brazilian reality. Thus, the main published treatment guidelines were reviewed based on the recommendations of group from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology.

ABSTRACT The major advances in the area of movement disorders in Brazil in recent years were driven by the work of Luiz Augusto Franco de Andrade and Egberto Reis Barbosa. This historical review describes the contributions made by these researchers, physicians, and educators to the development of this field in Brazil.

Abstract Background: There are currently no methods to predict the development of levodopa-induced dyskinesia (LID), a frequent complication of Parkinson's disease (PD) treatment. Clinical predictors and single nucleotide polymorphisms (SNP) have been associated to LID in PD. Objective: To investigate the association of clinical and genetic variables with LID and to develop a diagnostic prediction model for LID in PD. Methods: We studied 430 PD patients using levodopa. The presence of LID was defined as an MDS-UPDRS Part IV score ≥1 on item 4.1. We tested the association between specific clinical variables and seven SNPs and the development of LID, using logistic regression models. Results: Regarding clinical variables, age of PD onset, disease duration, initial motor symptom and use of dopaminergic agonists were associated to LID. Only CC genotype of ADORA2A rs2298383 SNP was associated to LID after adjustment. We developed two diagnostic prediction models with reasonable accuracy, but we suggest that the clinical prediction model be used. This prediction model has an area under the curve of 0.817 (95% confidence interval [95%CI] 0.77‒0.85) and no significant lack of fit (Hosmer-Lemeshow goodness-of-fit test p=0.61). Conclusion: Predicted probability of LID can be estimated with reasonable accuracy using a diagnostic clinical prediction model which combines age of PD onset, disease duration, initial motor symptom and use of dopaminergic agonists.

ABSTRACT Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched chain amino acids levels behave as potential biomarkers in HD. Methods: Symptomatic and asymptomatic HD carriers and controls were recruited. Age, sex, body mass index (BMI), age of onset, disease duration, UHDRS scores, and expanded CAG tract were obtained; valine, leucine, isoleucine, and free carnitine were measured. Baseline and longitudinal analysis were performed. Results: Seventy-four symptomatic carriers, 20 asymptomatic carriers, and 22 non-carriers were included. At baseline, valine levels were reduced in symptomatic and asymptomatic HD carriers when compared to non-carriers. No difference in free carnitine or isoleucine+leucine levels were observed between groups. BMI of symptomatic individuals was lower than those of non-carriers. Valine levels correlated with BMI. Follow-up evaluation was performed in 43 symptomatic individuals. UHDRS total motor score increased 4.8 points/year on average. No significant reductions in BMI or valine were observed, whereas free carnitine and isoleucine+leucine levels increased. Conclusions: Although valine levels were lower in HD carriers and were related to BMI losses observed in pre-symptomatic individuals, none of these metabolites seem to be biomarkers for HD.

Abstract Background There is an association among postural instability, gait dysfunction, and cognitive impairment in subjects with Parkinson’s disease (PD). Difficulty in dividing attention, response inhibition, and visuospatial attention deficiencies may contribute to the impairment of motor performance during daily activities. There are strong evidences that physical therapy can prevent physical and cognitive decline in individuals with PD. Recently, the European Physiotherapy Guideline (EPG) was developed based on randomized clinical trials about the effectiveness of the physical therapy to improve the functional deficiencies of individuals with PD. The EPG did not include the use of promising new intervention as virtual reality in PD due the lack of studies about its safety, feasibility and effectiveness. Therefore, this study protocol had as objective to evaluate the feasibility, safety and effectiveness of a physical therapy program-based on the European Physiotherapy Guideline (EPG) compared to Kinect-based training on postural control, gait, cognition, and quality of life (QoL) of Individuals with PD. Methods/design A single-blind, parallel, randomized, controlled feasibility trial will be conducted with a sample of 32 individuals diagnosed with idiopathic PD. Participants will be allocated into control group (CG) and experimental group (EG). The intervention of the CG will be conventional physical therapy, and the intervention of the EG will be a supervised practice of five Kinect games. Both groups will perform 14 sessions of 1 h each one, twice a week over 7 weeks. Process outcomes will be safety, feasibility, adherence, and acceptability. Safety will be assessed by the proportion of participants who experienced intervention-related adverse events or any serious adverse event during the study period. Feasibility will be assessed through the scores of the games recorded in all training sessions. Adherence will be assessed through the participant’s attendance. Acceptability will be the motivation of the participants regarding the interventions. Clinical outcomes will be (1) postural control, (2) cognitive function, (3) balance, (4) gait, and (5) QoL. Individuals will be assessed pre- and post-interventions and after 30 days by a blinded evaluator. Discussion This protocol will clarify if an intervention based on Kinect games will be feasible, safe, and acceptable for individuals with PD compared to conventional physical therapy. We will verify whether the proposed interventions can improve clinical outcomes as postural control, gait, cognition, and QoL of individuals with PD. Our hypothesis is that both Kinect games and conventional physical therapy will be feasible, safe, and acceptable for individuals with PD and will promote positive clinical effects. The results of this feasibility study will be used to design a future definitive clinical trial. Trial registration Unique identification number in WHO Trial Registration: U1111-1171-0371. Brazilian Clinical Trial Registration Number RBR-27kqv5 , registration date: February, 2016.

RESUMO O objetivo deste estudo foi avaliar o equilíbrio de pacientes com doença de Parkinson (DP) na posição de tandem com os olhos abertos (OA), olhos fechados (OF) e em condição de dupla tarefa (DT). Trata-se de um estudo transversal composto por 19 indivíduos com DP nos estágios leve a moderado. Os pacientes foram avaliados em uma plataforma de força Biomec400. Os parâmetros analisados foram a área do centro de pressão dos pés (COP) e a amplitude e velocidade do COP nas direções anteroposterior (AP) e mediolateral (ML). Foram encontrados resultados estatisticamente significantes para amplitude AP e ML do COP e da área do COP, com valores maiores para as posições em tandem de OF e tandem com DT, quando comparados com a posição em tandem de OA. Os valores de velocidade média AP e ML foram maiores na posição em tandem de OF em comparação ao tandem de OA (p=0,009 e p=0), respectivamente. Concluiu-se que indivíduos com DP, quando submetidos a desafios cognitivos, comportam-se de forma semelhante à retirada do recurso visual no que diz respeito às alterações de equilíbrio. Isso reforça a necessidade de introduzir no plano terapêutico desses indivíduos atividades que requeiram o treino dessas habilidades.

OBJECTIVES: To compare signs and symptoms of dysphagia in individuals with cervical dystonia (CD) before and after application of botulinum toxin (BTX). METHODS: A prospective study was conducted with 20 patients diagnosed with CD with indications for BTX application. We selected 18 patients who met the study inclusion criteria. All individuals were patients from the Movement Disorders Unit, Department of Neurology, Federal University of São Paulo. BTX was applied in the cervical region at the necessary dose for each individual. To identify signs/complaints of changes in swallowing, we used a specific questionnaire that was completed by patients and/or their companions on the day of BTX injection and repeated 10 to 15 days after BTX injection. RESULTS: Among the 18 study subjects, 15 (83.3%) showed primary and three (16.7%) showed secondary cervical dystonia. The most frequent dystonic movements were rotation (18), tilt (5), forward shift (3), backward shift (7), shoulder elevation (12), shoulder depression (2), and cervical tremor (6). The main complaints reported before BTX application were voice changes in 10 (55.6%), need for adjustment of eating position in 10 (55.6%), coughing and/or choking while eating in nine (50%), and increased eating time in nine (50%) individuals. The main complaints reported after BTX application were coughing and/or choking while eating in 11 (61.1%), voice changes in nine (50%), sensation of food stuck in the throat in eight (44%), and increased eating time in eight (44%) individuals. CONCLUSION: The administration of a swallowing-specific questionnaire to individuals with CD before and after BTX application enabled the identification of possible dysphagia symptoms prior to drug treatment resulting from CD, which are often subsequently interpreted as side effects of the drug treatment. Thus, dysphagia can be managed, and aspiration symptoms can be prevented.

ABSTRACT Essential tremor (ET) was long believed to be a monosymptomatic disorder. However, studies have evidenced structural changes and attention is now being focused on non-motor symptoms. The objective of the study is to describe and compare ET patients with control groups according to their cognitive functions, and secondarily, to compare their sociodemographic characteristics and other clinical features. All participants were assessed using the Fahn-Tolosa-Marin Tremor Rating Scale for the severity of tremor; a neuropsychological assessment battery and a screening questionnaire for mood and anxiety symptoms. There were no significant age and gender differences between all groups. As for neuropsychological assessment results, a significant difference was found only in the Pegboard test. We also found a significant negative correlation between a poorer cognitive test results and disease severity and a significant differences regarding depression or anxiety symptoms in patients with ET. The study results suggest that patients with ET have impaired manual dexterity and attention.

Abstract AIMS to compare the efficacy of neurofunctional training versus resistance training in improving gait and quality of life among patients with PD METHODS This randomized controlled trial included 40 participants randomly assigned to two groups through random number table generator: resistance training (RT) (n=19) and neurofunctional training (NT) (n=21). The RT group performed resistance exercises emphasizing the lower limbs and trunk, while the NT group sessions were focused on gait, functional independence and balance training. Trained physical therapists supervised both groups. The training sessions lasted 60 minutes in each group and were performed twice a week, totalizing 24 sessions. The outcomes, gait and quality of life, were measured using video gait analysis and footprint analysis; and PDQL and PDQ-39 questionnaires, respectively RESULTS intra-group comparison revealed all gait variables (stride length, step length, number of steps, time of distance walked, gait speed and cadence) improved after the NT intervention with large effect size, while only stride length improved in the RT group with moderate effect size. The between group analyses means (Δ) shows that all the variables presented statistically significant differences in the NT group. Additionally, both groups showed significant improvements in quality of life. CONCLUSIONS The application of specific neurofunctional training, directed and enriched with sensorial resources, resulted in superior gait performance among individuals with PD when compared to those in the resistance training group; both treatments were efficacious in improving quality of life.

Escola Paulista de Medicina (EPM) was founded in 1933 and the first Professor of Neurology was Fausto Guerner, who could not effectively assume the teaching activities due to his premature death in 1938. Professor Guerner had had his neurological training at Paris. Professor Longo was his successor. Longo was one of the founders of Arquivos de Neuro-Psiquiatria the foremost journal of neurosciences in Latin American. Longo died in 1967 and Professor Paulo Pupo succeeded him. Pupo introduced electroencephalography in Brazil. After his death in 1970, Professor Dante Giorgi succeeded him until 1974. Professor José Geraldo Camargo Lima took over the position after Giorgi’s death. He created the Neurological Emergency unit, initiated the Post-Graduation in Neurology and divided the Discipline in specialized units. During the 1980’s and until his retirement in 1995, EPM had become one of most important centers of Brazil training neurologists and researchers in neurological sciences.

Introduction: Postural instability is one of the most disabling features of Parkinson's disease. Objective: To evaluate postural balance in Parkinson's disease. Methods: Thirty patients with Parkinson's disease were compared with controls using Tetrax™ interactive balance system posturography. Results: For different positions, patients with Parkinson's disease showed a significantly higher weight distribution index, fall index, Fourier transformation at low-medium frequencies (F2–F4), and significantly lower right/left and toe/heel synchronization versus controls. Conclusion: Postural imbalance in Parkinson's disease patients is characterized by the abnormalities of weight distribution index, synchronization index, Fourier transformation index, and fall index as measured by Tetrax™ posturography.

Parkinson’s disease (PD) is the second most prevalent neurodegenerative disease worldwide, affecting more than four million people. Typically, it affects individuals above 45, when they are still productive, compromising both aging and quality of life. Therefore, the cost of the disease must be identified, so that the use of resources can be rational and efficient. Additionally, in Brazil, there is a lack of research on the costs of neurodegenerative diseases, such as PD, a gap addressed in this study. This systematic review critically addresses the various methodologies used in original research around the world in the last decade on the subject, showing that costs are hardly comparable. Nonetheless, the economic and social impacts are implicit, and important information for public health agents is provided.

OBJECTIVE: It was to analyze clinical aspects of patients with blepharospasm, including outcomes of botulinum toxin treatment. Additionally, clinical characteristics of isolated blepharospasm were compared to those of blepharospasm plus other movement disorders. METHODS: Clinical data recorded during 17 years were reviewed. The variables included age, gender, age of onset, past medical history, head trauma, smoking history, family history of dystonia, severity, duration of botulinum toxin relief and adverse effects. RESULTS: A total of 125 patients were included and 75.2% were female. The mean age of onset was 54.3 years; 89.6% of the individuals started with contractions in eye region, and 39.2% of them spread to lower face or neck. Isolated blepharospasm group was compared with blepharospasm-plus group for demographic and clinical features, and therapeutic outcomes, without significant differences. Botulinum toxin treatment improved the severity of contractions (p=0.01) with low rate of side effects (14%). CONCLUSIONS: Both groups - isolated blepharospasm and blepharospasm-plus - shared similar results concerning epidemiology, clinical features and therapeutic response to botulinum toxin.

Movement disorders have been increasingly recognized in patients with HIV infection and may be due to distinct causes, as opportunistic infections or medication side effects for example. Parkinsonism, tremor and hemichorea have been more frequently noted in association with HIV and opportunistic infections. However, a variety of involuntary movements have already been described. We report a case of neurotoxoplasmosis in a patient with HIV infection who presented with a dystonic tic involving ocular, oral and cervical movements.

BACKGROUND AND PURPOSE: Few studies have attempted to develop clinical predictors for cervical dystonia (CD) aiming at progression of the dystonic movement. METHOD: We retrospectively evaluated 73 patients with primary CD who underwent treatment with Botulinum toxin type-A (BTX-A). The patients were assembled in two groups according to the spread of dystonia during follow-up: spreading and non-spreading CD. We performed a binary logistic regression model using spreading of cervical dystonia as dependent variable aiming to find covariates which increase the risk of spreading. RESULTS: Our logistic regression model found the following covariates and their respective risk ratios: time of disease >18.5 months=2.4, retrocollis=1.9, anterocollis=1.8, head tremor=1.6. CONCLUSION: Time of disease >18.5 months, retrocollis, anterocollis and head tremor may predict spreading of dystonic movement to other regions of the body in CD patients.INTRODUÇÃO: Poucos estudos avaliam preditores clínicos de progressão dos movimentos distônicos, para além da região cervical, em pacientes com distonia cervical (DC) primária. MÉTODO: Avaliamos, retrospectivamente, 73 pacientes com DC primária, que tinham sido submetidos ao tratamento com a toxina botulínica tipo A (BTX-A). Estes pacientes foram divididos em dois grupos de acordo com a progressão ou não da DC para outras áreas do corpo. Aplicamos um modelo de regressão logística binária usando a progressão da distonia como variável dependente com o objetivo de identificar co-variáveis que aumentassem o risco de progressão. RESULTADOS: O modelo de regressão logístico identificou as seguintes co-variáveis como preditoras de progressão e seus respectivos índices de risco: tempo de doença >18,5 meses=2,4, retrocolis=1,9, anterocolis=1,8, tremor cefálico=1,6. CONCLUSÃO: Tempo de doença >18,5 meses, retrocolis, anterocolis, e tremor cefálico podem predizer a progressão do movimento distônico para outras regiões do corpo em pacientes com DC primária.

OBJECTIVE: To evaluate and compare the frequency and severity of major depression in patients with Parkinson's disease and in individuals older than 60 years without neurological, rheumatological and/or oncological comorbidities. METHOD: We studied 50 patients with Parkinson's disease older than 60 years and 50 geriatric patients. Subjects with scores of Mini Mental State Examination indicating cognitive impairment were excluded. We used Diagnostic Statistical Manual of Mental Diseases-IV criteria to diagnose major depression and the Hamilton Depression Scale and the Beck Depression Inventory to rate it. The Unified Parkinson's Disease Rating Scale part 3 and the Hoehn and Yahr Scale were used to evaluate the motor severity of Parkinson's disease. RESULTS: Major depression was found in 42% of Parkinson's disease patients and in 10% of the geriatric patients (p < 0.001). The scores of the Hamilton Depression Scale and the Beck Depression Inventory were higher in Parkinson's disease patients (p < 0.001). Depressed Parkinson's disease patients had longer duration of Parkinson's disease (p = 0.020) and higher scores on the Unified Parkinson's Disease Rating Scale part 3 (p = 0.029) and the Yahr Scale (p = 0.027). CONCLUSIONS: The frequency (42%) and severity of major depression were higher in Parkinson's disease patients. Longer duration of Parkinson's disease, higher scores on the Unified Parkinson's Disease Rating Scale part 3 and the Hoehn and Yahr Scale were significantly associated with major depression.RESUMO OBJETIVO: Avaliar e comparar a freqüência e intensidade de depressão em um grupo com doença de Parkinson e um grupo sem doença de Parkinson, sem doença neurológica, reumatológica e/ou oncológica acompanhados na Universidade Federal de São Paulo. MÉTODO: Avaliaram-se 50 indivíduos com doença de Parkinson (grupo Parkinson) e 50 indivíduos sem doença de Parkinson (grupo controle) acima de 60 anos. Excluíram-se indivíduos que demonstravam alterações cognitivas pelo Mini Exame Estado Mental. Todos foram submetidos à entrevista estruturada para depressão maior do Diagnostic Statistical Manual of Mental Diseases-IV, Escala de Depressão de Hamilton e Inventário de Depressão de Beck. O grupo Parkinson foi submetido à avaliação física por Unified Parkinson Disease Rating Scale 3 e Hoehn-Yahr. RESULTADOS: 42% do grupo Parkinson e 10% do grupo controle (p < 0,001) apresentaram depressão maior, segundo os critérios do Diagnostic Statistical Manual of Mental Diseases-IV. As médias de pontuação da Escala de Depressão de Hamilton e do Inventário de Depressão de Beck foram maiores no grupo Parkinson (p < 0,001). Em tempo de doença (p = 0,020), as médias dos escores de Hoehn-Yahr (p = 0,027) e Unified Parkinson Disease Rating Scale 3 (p = 0,029) foram maiores nos parkinsonianos com depressão. CONCLUSÕES: A freqüência (42%) e a intensidade de depressão maior foram maiores no grupo Parkinson. A depressão maior também esteve significativamente relacionada à pior função motora dos parkinsonianos.

Quality of life (QoL) is an important treatment outcome indicator in Parkinson's disease (PD). The aim of this study is to assess the usefulness of the Parkinson's disease questionnaire - PDQ-39 (Brazilian Portuguese Version) in measuring QoL of PD patients with or without motor fluctuations. Fifty-six PD patients with mean disease duration of 7.4 years were assessed and 41 of them (73.3%) had motor fluctuations. The PDQ-39 has eight dimensions ranging from 0 to 100; being the higher the score, the worse the QoL. Comparing groups with and without motor fluctuations showed that the dimensions mobility, activities of daily living (ADL), communication and bodily discomfort scored higher in the fluctuating group. There was a tendency to see that the higher the Hoehn and Yahr (HY) scale stages, the higher the PDQ-39 scores. Patients suffering from the disease for more than five years had worse PDQ-39 scores only in the items ADL and communication, when compared with those with the disease for < 5 years. The PDQ-39 is an instrument that detects decrease in QoL of PD patients and the presence of motor fluctuations predicts QoL reduction.A qualidade de vida (QdV) é um item importante para se mensurar o sucesso do tratamento na doença de Parkinson (DP). O objetivo deste estudo foi o de avaliar a utilidade do questionário sobre a doença de Parkinson - PDQ-39 (versão em língua portuguesa falada no Brasil) para mensurar a QdV dos pacientes parkinsonianos com e sem flutuação motora. Nós avaliamos 56 pacientes com DP com tempo médio da doença de 7,4 anos, e destes 41 (73,3%) apresentavam flutuação motora. A PDQ-39 tem oito domínios que variam de 0 a 100 e quanto maior o escore pior a QdV. A comparação dos grupos de pacientes com e sem flutuação motora mostrou que os domínios: mobilidade, atividades de vida diária, comunicação e desconforto corporal tinham escores maiores nos flutuadores. Quanto maiores os estágios de Hoehn e Yahr (HY) da doença, maiores os escores da PDQ-39. Pacientes com mais de 5 anos de evolução da doença mostraram escores piores da PDQ39 apenas nos itens atividades da vida diária e comunicação se comparados a pacientes com 5 anos ou menos de doença. A PDQ-39 é um instrumento capaz de detectar declínio da QdV de pacientes com DP e a presença de flutuação motora é um preditor para redução na QdV.

OBJECTIVE: To compared the clinical features of 373 patients with primary and postparalytic hemifacial spasm (HFS). METHOD: Data analyzed were gender, ethnicity, age at symptom onset, disease duration, affected side, distribution of facial spasm at onset, hypertension, family history of HFS, previous history of facial palsy and latency between facial palsy and HFS. RESULTS:The prevalence of patients with Asian origin was similar in both groups such as female/male ratio, mean age at symptom onset, disease duration, affected side and distribution at onset of facial twitching. The upper left side of the face was the main affected region at onset. Almost 40% of the patients in both groups had hypertension. A prevalence of vascular abnormalities on the posterior fossa was seen in 7% and 12.5% of both groups. CONCLUSION: The clinical profile and radiological findings of patients with primary and postparalytic HFS are similar. The association of hypertension with vascular abnormalities and HFS was not frequent.OBJETIVO: Comparar características clínicas de 373 pacientes com espasmo hemifacial (EHF) primário e pós-paralítico. MÉTODO: Os dados analisados foram: sexo, etnia, idade no início dos sintomas, duração da doença, lado afetado, distribuição dos espasmos no início da doença, hipertensão arterial, história familiar de EHF, história prévia de paralisia facial periférica e latência entre a paralisia facial e o início do EHF. RESULTADOS: A prevalência de pacientes com origem asiática foi semelhante em ambos os grupos assim como razão homem/mulher, média de idade no início dos sintomas, duração da doença, lado afetado e distribuição dos espasmos no início dos sintomas. O quadrante superior esquerdo da face foi o lado mais afetado no início dos sintomas. Quase 40% dos pacientes em ambos os grupos tinha hipertensão arterial. A prevalência de anormalidades vasculares na fossa posterior foi observada, respectivamente, em 7% e 12,5% dos casos. CONCLUSÃO: O perfil clínico e também radiológico dos pacientes com EHF primário e pós-paralítico foi semelhante. A associação entre hipertensão arterial e anormalidades vasculares na fossa posterior não foi freqüente.

Parkinson’s disease is the second most common neurodegenerativedisorder. Mitochondrial dysfunction plays a major role in thepathogenesis of this disorder. Studies on monogenic forms ofparkinsonism have significantly contributed to understanding thisprocess. We reviewed our understanding of the role of these genes inmitochondrial dysfunction in Parkinson’s disease.

INTRODUÇÃO: Radiotraçadores para neuroimagem de transportador de dopamina (TDA) foram desenvolvidos para estimar a perda de neurônios dopaminérgicos in vivo na doença de Parkinson (DP). OBJETIVO: Avaliar a densidade de TDA in vivo utilizando [99mTc]-TRODAT-1 (INER-Taiwan) e SPECT em uma população de pacientes brasileiros com DP. MÉTODO: Quinze pacientes com DP e 15 controles saudáveis pareados realizaram exames de SPECT com [99mTc]-TRODAT-1 (INER-Taiwan). Estimativas da densidade de TDA estriatal foram calculadas usando potencial de ligação (PL). Pacientes foram avaliados com escalas para PD. RESULTADOS: Pacientes com DP apresentaram redução significativa do PL-TDA (0,38±0,12) comparado aos controles (0,84±0,16, pBACKGROUND: Dopamine transporter (DAT) neuroimaging radiotracers were developed to estimate dopamine neuronal loss in vivo in Parkinson’s disease (PD). OBJECTIVE: To evaluate DAT density in vivo using [99mTc]-TRODAT-1 and single photon computerized tomography (SPECT) in a population of Brazilian PD. METHOD: Fifteen PD patients and 15 matched healthy controls scanned with [99mTc]-TRODAT-1 (INER-Taiwan) and SPECT. Estimates of striatum DAT density were calculated using binding potential (BP). Patients were assessed with PD scales. RESULTS: PD patients had significantly lower striatal DAT-BP (mean±SD) (0.38±0.12) compared to controls (BP=0.84±0.16; p

Long-term complications in levodopa treated Parkinson's disease (PD) patients caused a resurgence of interest in pallidotomy as an option of treatment. However, postoperative complications such as speech disorders can occur. PURPOSE: The aim of this study is to evaluate the acoustic voice in PD patients, before and after posteroventral pallidotomy. METHOD: Twelve patients with PD were submitted to neurological and voice assessments during the off and on phases, in the pre-operative, 1st and 3rd post-operative months. The patients were evaluated with the UPDRS and the vocal acoustic parameters - f0, NHR, jitter, PPQ, Shimmer, APQ (using the software MultiSpeech - Kay Elemetrics - 3700). RESULTS: The off phase UPDRS scores revealed a tendency to improvement at the 1st month and the off phase worsened. The shimmer and APQ improved. CONCLUSION: This study shows that pallidotomy has little improvement on functional use of communication of PD patients.O uso prolongado da levodopa na doença de Parkinson (DP) pode ocasionar alterações em seu rendimento e possibilitou o interesse no ressurgimento da palidotomia. Contudo, complicações pós-operatórias podem ocorrer. OBJETIVO: O presente estudo tem por objetivo avaliar alguns parâmetros acústicos da voz de pacientes com DP pré e pós a realização da palidotomia posteroventral METODO: foram avaliados 12 pacientes com PD submetidos a avaliação neurológica e da voz durante as fases off e on do uso da levodopa, nos momentos pré-operatório, no primeiro e no terceiro mês pós-operatório. Os pacientes foram avaliados com base na escala UPDRS - item motor - e por meio dos parâmetros acústicos da voz - f0, NHR, jitter, PPQ, Shimmer, APQ (usando o software MDVP - Kay Elemetrics - 3700). RESULTADOS: Na fase off o escore UPDRS revelou tendência de melhora no 1º pós-operatório e na fase on piora. Os parâmetros acústicos shimmer e APQ apresentaram melhora. CONCLUSÃO: Este estudo mostrou que a palidotomia resulta em discreta melhora no uso funcional da comunicação dos pacientes com DP.

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.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.

OBJETIVO: Avaliar o impacto da cirurgia estereotáxica sobre a realização das atividades da vida diária dos paciente com doença de Parkinson (DP). MÉTODO: Foram avaliados 30 pacientes com DP forma idiopática submetidos a cirurgia estereotáxica nos períodos pré-operatório, 1º, 3º, 6º e 12º mês pós-operatório, segundo as escala UPDRS - Item II (escala unificada para DP), Schwab & England e Hoehn & Yahr. Destes, nove pacientes foram também avaliados no 24º mês pós-operatório. RESULTADOS: Foram realizadas nove palidotomias póstero-ventrais (PPV), sendo duas à esquerda e sete à direita; duas PPV bilaterais no mesmo tempo cirúrgico; 17 talamotomias ventro-laterais (TVL), sendo 12 à esquerda e cinco à direita; duas TVL à esquerda com PPV à direita no mesmo tempo cirúrgico. Os escores médios, na fase off, das escalas utilizadas foram: 65,6 no pré-operatório,74 no 1º mês, 76,6 no 3º mês, 75,6 no 6º mês e 72,3 no 12º mês pós-operatório (Schwab & England); 21 no pré-operatório, 12,3 no 1º mês, 14,7 no 3º mês, 15,27 no 6º mês e 17,1 no 12º mês pós-operatório (UPDRS); 3,1 no pré-operatório, 2,8 no 1º mês, 2,7 no 3º mês, 2,8 no 6º mês e 2,85 no 12º mês pós-operatório (Hoehn & Yarh). CONCLUSÃO: A TVL e a PPV são procedimentos capazes de melhorar a independência dos pacientes para realização das atividades cotidianas, sendo constatado benefício maior nos seis primeiros meses de pós-operatório.OBJECTIVE: To evaluate the impact of stereotactic surgery on daily activities of Parkinson's disease (PD) patients. METHOD: Thirty patients with idiopathic PD were evaluated before surgery and one, three, six and twelve months after surgery. Patients were evaluated with the UPDRS - part II (Unified Parkinson's Disease Rating Scale) and the Schwab & England scales. Nine of the patients had also been evaluated after twenty four months. RESULTS: We performed nine posteroventral pallidotomies (PVP), two on the left hemisphere and seven on the right; 17 ventrolateral thalamotomies (VLT), 12 on the left and five on the right; two VLT on the left associated with PVP on the right at the same surgical procedure. The mean "off" phase scores of Schwab & England scale were: 60.6 before surgery, 74 after the first, 76.6 after the third, 75.6 after the sixth, 72.3 after the twelfth and 71.1 after the twenty fourth months after surgery. The mean "off" phase scores of UPDRS - part II scale were: 21 before surgery, 12.3 after the first, 14.7 after the third, 15.27 after the sixth, 17.1 after the twelfth and 17.5 after the twenty fourth months after surgery. CONCLUSION: VTL and PVP are useful procedures to improve daily living activities of the PD patients and the best results are seen by six months after surgery.

BACKGROUND: The association of hemifacial spasm (HFS), Chiari type I malformation (CIM) and neurofibromatosis type 1 (NF1) has not been described yet. CASE REPORT: We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS. On magnetic resonance imaging (MRI) a CIM was seen without syringomyelia. The patient has been successfully treated with botulinum toxin type A injections for 5 years without major side effects. CONCLUSION:Clinical features of HFS, CMI and NF1 are highlighted together with their possible relationship. Also, therapeutic strategies are also discussed.INTRODUÇÃO: A associação entre espasmo hemifacial (EHF), malformação de Chiari tipo I (MCI) e neurofibromatose tipo I (NFI) ainda não foi descrita. RELATO DO CASO: Relatamos o caso de mulher com 31 anos com NFI que desenvolveu EHF à direita. Na ressonância magnética (RM) foi observada MCI sem seringomielia associada. A paciente foi tratada com sucesso com toxina botulínica tipo A por 5 anos sem efeitos colaterais. CONCLUSÃO: Ressaltamos as características clínicas do EHF, MCI e NFI assim como uma possível relação entre elas. Além disto, discutimos também estratégias terapêuticas.

We evaluated the initial and final diagnosis of 80 patients with delirium arriving at the emergence unit of a university hospital in a large Brazilian city over a period of 30 months up to December 1991. The diagnosis was based on the DSM-IIIR criteria. Patients with a known history of head trauma or epileptic seizure and patients younger than 13 years were excluded. Only patients with a disease of up to 7 days were included.The patients were subdivided into four etiologic groups: vascular; associated with the use of alcohol; infectious-parasitic; miscellaneous.The results showed a rate of correct diagnosis ranging from 65 to 80% with the use of kappa test (standard good to excelent). Sensitivity, specificity, positive predictive and negative predictive values had results showing different conditions for initial diagnosis in each group. This study can help the initial diagnosis of delirium and the choice for diagnostic testing.

We describe a case of non-ketotic hyperglycemia (NKH), heralded by complex partial seizures and aphasia of epileptic origin, besides versive and partial motor seizures. This clinical picture was accompanied by left fronto-temporal spikes in the EEG. The seizures were controlled by carbamazepine only after the control of the diabetes. A month later, carbamazepine was discontinued. The patient remained without seizures, with normal language, using only glybenclamide. Complex partial seizures, opposed to simple partial seizures, are rarely described in association to NKH. Epileptic activity localized over language regions can manifest as aphasia.Descrevemos um caso de hiperglicemia não-cetótica (HNC) cujas manifestações iniciais foram crises parciais complexas e afasia de origem epiléptica, além de crises versivas e parcias motoras. Este quadro clínico foi acompanhado por atividade epileptiforme na região fronto-temporal esquerda ao eletrencefalograma. As crises epilépticas foram controladas com carbamazepina (CBZ) apenas após o controle do diabetes mellitus. Após um mês, a CBZ foi suspensa, permanecendo a paciente com linguagem normal, sem novas crises epilépticas, em uso apenas de glibenclamida. Crises parciais complexas, ao contrário de crises parciais simples, são raramente descritas como manifestação de HNC. Atividade epileptiforme nas regiões relacionadas a linguagem podem manifestar-se como afasia.

A toxina botulínica A é a forma mais eficaz de tratar algumas distonias focais e o espasmo hemifacial. Devido a seu custo ainda elevado no nosso país, seu uso ainda não é disseminado. Mostramos nossa experiência com a toxina botulínica A em 115 pacientes, sendo 45 com espasmo hemifacial que apresentaram melhora acentuada ou total em 100%. Em 20 pacientes com blefaroespasmo essencial houve melhora acentuada ou total em 70% . Na síndrome de Meige, representada por 14 pacientes, a melhora acentuada ou total foi observada em 71,4%. Em 23 pacientes com distonia cervical observou-se melhora acentuada em 65,2%. Distonia da mão, com 6 pacientes, apresentou o menor índice de melhora acentuada (2 pacientes, 33,3%). As complicações de caráter transitório ocorreram, sendo as mais frequentes ptose palpebral e diminuição da força palpebral e a mais grave, pneumonia aspirativa. Acreditamos que a toxina é forma eficaz e habitualmente segura de tratamento destas condições clínicas.Botulinum toxin A is the more efficient therapy of focal dystonias and hemifacial spasm. Our experience with botulinum toxin A injections in 115 patients is reported. Marked or total improvement was achieved in all 45 patients with hemifacial spasm, in 70% of 20 patients with essential blepharospasm and in 71.4% of 14 patients with Meige's syndrome. In 65.2% of 23 patients with cervical dystonia marked but no total improvement was obtained. The worse results were seen in the 6 patients with hand dystonia (writers cramp), in whom marked improvement was obtained in just two. Mild and transient complications occurred in up to 24.4%, eyelid ptosis and eyelid weakness being the most frequent. One patient with Meige's syndrome had an aspiration pneumonia following dysphagia. Our results are in agreement with others, showing that botulinun toxin A is a useful and safe treatment for these conditions.

Chorea is a clinical syndrome characterized by abnormal involuntary arrhythmic movements, randomly distributed in time, affecting mainly the distal parts of the limbs. There are many diseases associated with chorea but the distribution of the etiologies vary too much in different parts of the world. We intended to study the etiologies of chorea in a Movement Disorders Unit of a university hospital-based outpatient clinic in Brazil. We studied the records of 119 patients with chorea based in the diagnostic criteria of the World Federation of Neurology. Sydenham's chorea (SC) was the most frequent cause of chorea (51.3%) of our sample. Other common causes were Huntington's chorea (18.5%) and chorea post-stroke (9.2%). SC is not commonly seen in developed countries nowadays but is not rare in Brazil. SC patients generally have the clinical manifestation of it in the first 20 years of age and girls are more affected than boys and this feature was observed in our sample. Based on our own experience and in the review of the literature we propose an etiological classification of chorea.Coréia é uma síndrome caracterizada por movimentos involuntários arrítmicos, rápidos, abruptos, não repetitivos no tempo e com distribuição variável, preferentemente distal. O número de entidades clínicas reconhecidamente associadas a movimentos coréicos tem se tornado cada vez maior com o passar do tempo. Propusemo-nos estudar a frequência e algumas características epidemiológicas das coréias atendidas em um ambulatório especializado em distúrbios do movimento. Foram estudados os prontuários de 119 pacientes com o diagnóstico sindrômico de coréia. O predomínio absoluto foi de coréia de Sydenham (CS) com 51,3% do total da amostra. Outras causas frequentes foram doença de Huntington (DH) presente em 18,5% e a coréia secundária a doença cerebrovascular em 9,2% dos pacientes. O sexo feminino predominou em todas as faixas etárias, mas principalmente nos pacientes mais jovens, em função da CS predominar e desta ser mais comum nas meninas. Também, a coréia secundária ao uso de anovulatórios e a gravidez contribuiu para este predomínio. Baseados na experiência do nosso serviço e na revisão da literatura, propomos uma classificação para as coréias.

Cerebral autosomal dominant arteriopathy with subcortical infarctsand leukoencephalopathy (CADASIL) is an inherited autosomaldominant condition characterized by migraine, recurrent subcorticalischemic events and vascular dementia. The association ofCADASIL and movement disorders is a rare finding. We reportedthe case of a 50-year-old male patient, classified as a probablecase of CADASIL with palatal tremor.

Progressive encephalomyelitis with rigidity and myoclonus (PEWR) is a rare neurological disorder, characterised by muscular rigidity, painful spasms, myoclonus, and evidence of brain stem and spinal cord involvement. A 73-year-old white man was admitted with a 10-day history of painful muscle spasms and continuous muscle rigidity on his left lower limb. He had involuntary spasms on his legs and developed encephalopathy with cranial nerves signs and long tract spinal cord symptomatology. Brain CT scan and spinal MRI were normal. The CSF showed lymphocytic pleocytosis and no other abnormalities. EMG showed involuntary muscle activity with 2-6 seconds of duration, interval of 30-50 ms and a frequency of 2/second in the left lower limb. Anti-GAD antibodies were detected in the blood. We detected radiological signs of lung cancer during the follow-up, which proved to be an oat cell carcinoma. The patient died two weeks after the diagnosis of the cancer.A encefalomielite progressiva com rigidez e mioclonia (PEWR) é doença neurológica rara, caracterizada por rigidez muscular, espasmos dolorosos, mioclonia e evidência de envolvimento de tronco cerebral e medula espinhal. Um paciente branco de 73 anos foi admitido com história de 10 dias de espasmos musculares dolorosos e rigidez muscular contínua no membro inferior esquerdo. Apresentava espasmos involuntários em membros inferiores e evoluiu com encefalopatia associada a sinais de nervos cranianos e sintomatologia de trato longo de medula espinhal. A tomografia computadorizada de crânio e a ressonância magnética de coluna foram normais. O LCR evidenciou pleocitose linfocítica, sem outras alterações. A EMG mostrou atividade muscular involuntária, de duração de 2-6 segundos, intervalo de 30-50 ms e uma freqüência de 2/segundo no membro inferior esquerdo. Foram detectados anticorpos anti-GAD no sangue. Na evolução, foram observados sinais radiográficos de neoplasia pulmonar, sendo posteriormente diagnosticado carcinoma de pequenas células de pulmão. O paciente faleceu duas semanas após o diagnóstico de câncer.

Revisamos os registros de 176 pacientes com tremor essencial (TE) quanto à história familiar, características do tremor, distribuição anatômica, idade de início dos sintomas. Os pacientes foram divididos em dois grupos: familiar (F) e não familiar (NF). História familiar de tremor foi encontrada em 47,2% da amostra. O tremor de ação e postura ocorreu combinadamente em 49,4%, somente de postura em 26,7% e somente de ação em 9,1%. O tremor de repouso foi registrado em 10,2%, sempre associado a outras características. Não houve diferenças clínicas entre os grupos Fe NF As mãos foram acometidas em 94,9% e a cabeça em 26,5%. O acometimento isolado das mãos foi mais frequente no sexo masculino, enquanto o tremor de cabeça foi mais frequente no sexo feminino. A idade de início variou de 4 a 85 anos e se mostrou significantemente menor nos pacientes do sexo masculino com história familiar (36,5 anos) e também nos pacientes do sexo masculino com tremor de ação e postura combinados. A idade de início não foi diferente quando se compararam grupos de pacientes com a mãe ou o pai acometidos. Embora existam diferenças nesta amostra, elas não são suficientes para considerar o TE familiar e o não familiar como entidades distintas.

We report herein a rare instance in which a patient presented with a hemorrhagic cerebral metastasis as the initial manifestation of a hepatocellular carcinoma (HCC). A few cases of cerebral metastasis from HCC have been reported in the literature, mainly from eastern countries. This is the first report from South America of a cerebral metastasis from hepatocellular carcinoma.

Homocistinúria apresentando-se como trombose venosa cerebral é incomum. Relatamos o caso de um adolescente com características fenotípicas de homocistinúria que foi admitido por cefaléia intensa, vômitos e sonolência. Investigação diagnóstica com tomografia computadorizada de crânio, ressonância magnética e angiorressonância foi compatível com trombose dos seios transversos e sigmóides. Altos níveis de homocisteína foram detectados no sangue e na urina. Apresentamos os aspectos clínicos e radiológicos deste caso discutindo a controversa fisiopatologia da tendência trombofílica associada a homocistinúria.

ABSTRACT We intended to evaluate whether non-demented Parkinsons’s disease (PD) patients, with or without subjective cognitive complaint, demonstrate differences between them and in comparison to controls concerning cognitive performance and mood. We evaluated 77 subjects between 30 and 70 years, divided as follows: PD without cognitive complaints (n = 31), PD with cognitive complaints (n = 21) and controls (n = 25). We applied the following tests: SCOPA-Cog, Trail Making Test-B, Phonemic Fluency, Clock Drawing Test, Boston Naming Test, Neuropsychiatric Inventory, Hospital Anxiety and Depression Scale (HADS) and Beck Depression Inventory. PD without complaints presented lower total score on Scales for outcome of Parkinson’s disease-cognition as compared to controls (p = 0.048). PD with complaints group showed higher scores on HADS (p = 0.011). PD without complaints group showed poorer cognitive performance compared to controls, but was similar to the PD with complaints group. Moreover, this group was different from the PD without complaints and control groups concerning mood.

ABSTRACT Objective To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12 presymptomatic huntingtin gene mutation, and 11 controls). We performed brain magnetic resonance imaging to assess white matter integrity using diffusion tensor imaging, with measurement of fractional anisotropy. Results We observed a significant decrease of fractional anisotropy in the cortical spinal tracts, corona radiate, corpus callosum, external capsule, thalamic radiations, superior and inferior longitudinal fasciculus, and inferior frontal-occipital fasciculus in the Huntington disease group compared to the control and presymptomatic groups. Reduction of fractional anisotropy is indicative of a degenerative process and axonal loss. There was no statistically significant difference between the presymptomatic and control groups. Conclusion White matter integrity is affected in huntingtin gene mutation symptomatic individuals, but other studies with larger samples are required to assess its usefulness in the progression of the neurodegenerative process.

ABSTRACT The objective of this study was to compare postural balance among healthy older adults and Parkinson's disease (PD) patients during one-legged stance balance. We recruited 36 individuals of both sexes and divided them into two groups: healthy older adults (HG), and individuals with PD (PG). All the participants were assessed through a single-leg balance test, with eyes open, during 30 seconds (30 seconds of rest across trials) on a force platform. Balance parameters were computed from mean across trials to quantify postural control: center of pressure (COP) area and mean velocity in both directions of movement, anterior-posterior and medial-lateral. Significant differences between-group were reported for area of COP (P=0.002) and mean velocity in anterior-posterior direction (P=0.037), where poor postural control was related to PD patients rather than to healthy individuals. One-legged stance balance was a sensitive task used to discriminate poor postural control in Parkinson individuals.