Task-related brain activity in upper limb dystonia revealed by simultaneous fNIRS and EEG.

OBJECTIVE: The aim of this study was to explore differences in brain activity and connectivity using simultaneous electroencephalography and near-infrared spectroscopy in patients with focal dystonia during handwriting and finger-tapping tasks. METHODS: Patients with idiopathic right upper limb focal dystonia and controls were assessed by simultaneous near-infrared spectroscopy and electroencephalography during the writing and finger-tapping tasks in terms of the mu-alpha, mu-beta, beta and low gamma power and effective connectivity, as well as relative changes in oxyhemoglobin (oxy-Hb) and deoxyhemoglobin using a channel-wise approach with a mixed-effect model. RESULTS: Patients exhibited higher oxy-Hb levels in the right and left motor cortex and supplementary motor area during writing, but lower oxy-Hb levels in the left sensorimotor and bilateral somatosensory area during finger-tapping compared to controls. During writing, patients showed increased low gamma power in the bilateral sensorimotor cortex and less mu-beta and beta attenuation compared to controls. Additionally, patients had reduced connectivity between the supplementary motor area and the left sensorimotor cortex during writing. No differences were observed in terms of effective connectivity in either task. Finally, patients failed to attenuate the mu-alpha, mu-beta, and beta rhythms during the finger-tapping task. CONCLUSIONS: Cortical blood flow and EEG spectral power differ between controls and dystonia patients, depending on the task. Writing increased blood flow and altered connectivity in dystonia patients, and it also decreased slow-band attenuation. Finger-tapping decreased blood flow and slow-band attenuation. SIGNIFICANCE: Simultaneous fNIRS and EEG may show relevant information regarding brain dynamics in movement disorders patients in unconstrained environments.

Guidelines for Parkinson's disease treatment: consensus from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology - motor symptoms.

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.

Guidelines for Parkinson's disease treatment: consensus from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology - motor symptoms / Diretrizes para o tratamento da doença de Parkinson: consenso do Departamento Científico de Transtornos do Movimento da Academia Brasileira de Neurologia - sintomas motores

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.

Resumo O tratamento da doença de Parkinson (DP) constitui um desafio, especialmente por ser considerado muito individualizado. A Academia Brasileira de Neurologia (ABN) identificou a necessidade de disseminar o conhecimento sobre o manejo do tratamento da DP, adaptando as melhores evidências à realidade brasileira. Assim, foi realizada uma revisão sobre as principais orientações de tratamento publicadas, baseada nas recomendações elaboradas por um grupo de especialistas em transtornos do movimento do departamento científico da ABN.

Movement disorders in multiple sclerosis and neuromyelitis optica: A clinical marker of neurological disability.

INTRODUCTION: Movement disorders are not rare in demyelinating diseases but there are few studies comparing their frequency between multiple sclerosis and neuromyelitis optica spectrum disorder. Our aim was to determine the frequency and the related features of movement disorders in a cohort of patients with multiple sclerosis and neuromyelitis optica spectrum disorder. METHODS: It is a cross-sectional study of patients with multiple sclerosis and neuromyelitis optica spectrum disorder. Patients were evaluated by a movement disorder specialist. Data from a personal interview and neurological examination were collected. Fahn-Tolosa-Marin tremor rating scale was used for tremor evaluation. Health-related quality of life was assessed using EuroQol instrument. RESULTS: Two hundred fifty-three patients were included (mean [SD] age, 40 [12] years; 74.3% female; median [IQR] EDSS score 2.5 [1.0-6.0]); 26% presented with movement disorders. Paroxysmal dystonia (n = 32) and tremor (n = 27) were the most common movement disorders. Patients with multiple sclerosis and low Expanded Disability Status Scale score (below 4.0) have fewer movement disorders than patients with neuromyelitis optica spectrum disorder. The diagnosis of neuromyelitis optica spectrum disorder was strongly associated with paroxysmal dystonia (OR = 22.07, 95% CI = 2.56-189.78; p = 0.005). Patients with multiple sclerosis and patients without movement disorders have a slightly better quality of life. CONCLUSIONS: Paroxysmal dystonia was the most common movement disorder in demyelinating diseases and strongly associated with neuromyelitis optica spectrum disorder.

The prevalence of PRKRA mutations in idiopathic dystonia.

INTRODUCTION: DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts. We aimed to investigate the role of PRKRA in patients with dystonia. METHODS: We sequenced PRKRA in 153 unrelated Brazilian patients with idiopathic dystonia. The frequency of novel missense variants was investigated in healthy Brazilian controls and in public databases. Homozygosity in the PRKRA region was assessed through polymorphic markers. RESULTS: PRKRA variants were identified in seven probands with isolated dystonia, including a novel c.C795A variant in compound heterozygosity with the previously described c.C665T variant. Heterozygosity in the gene region was observed in two probands who were homozygous for c.C665T, indicating that this mutation originated from independent events, suggesting a hotspot. CONCLUSION: PRKRA is not an unusual cause of idiopathic dystonia. In this cohort, it was responsible for 4.5% of the total of cases (4.9% of the isolated dystonia cases). The most common phenotype was early-onset isolated focal dystonia followed by generalization, parkinsonism was not observed. This is first report of PRKRA causing adulthood-onset dystonia. Screenings of large cohorts are recommended to investigate the role of this gene in isolated dystonia, as well as in dystonia-parkinsonism cases worldwide.

Average annual cost of Parkinson's disease in São Paulo, Brazil, with a focus on disease-related motor symptoms.

BACKGROUND: Although Parkinson's disease is the second most prevalent neurodegenerative disease worldwide, its cost in Brazil - South America's largest country - is unknown. OBJECTIVE: The goal of this study was to calculate the average annual cost of Parkinson's disease in the city of São Paulo (Brazil), with a focus on disease-related motor symptoms. SUBJECTS AND METHODS: This was a retrospective, cross-sectional analysis using a bottom-up approach (ie, from the society's perspective). Patients (N=260) at two tertiary public health centers, who were residents of the São Paulo metropolitan area, completed standardized questionnaires regarding their disease-related expenses. We used simple and multiple generalized linear models to assess the correlations between total cost and patient-related, as well as disease-related variables. RESULTS: The total average annual cost of Parkinson's disease was estimated at US$5,853.50 per person, including US$3,172.00 in direct costs (medical and nonmedical) and US$2,681.50 in indirect costs. Costs were directly correlated with disease severity (including the degree of motor symptoms), patients' age, and time since disease onset. CONCLUSION: In this study, we determined the cost of Parkinson's disease in Brazil and observed that disease-related motor symptoms are a significant component of the costs incurred on the public health system, patients, and society in general.

Systematic Review and Critical Analysis of Cost Studies Associated with Parkinson's Disease.

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.

Young onset Hemifacial Spasm in patients with Chiari type I malformation.

Hemifacial spasm (HFS) resulting from Chiari type I malformation (CIM) is rare. We retrospectively evaluated five patients with CIM and HFS among a series of 103 subjects. The frequency of HFS associated to CIM was of 4.85%. The clinical profile did not differ from the classical primary cases except for young-onset development of facial spasms in patients with CIM. Three patients were treated with BTX-A injections with favorable outcome. Although rare HFS may be associated with CIM especially in young subjects with peculiar phenotypic characteristics (short neck). Moreover, BTX may be an alternative to posterior fossa decompression in selected cases.

Experiência com aplicaçäo de toxina botulínica A em 115 pacientes / Botulinum toxin A: experience in the treatment of 115 patients

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 näo 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 por cento. Em 20 pacientes com blefaroespasmo essencial houve melhora acentuada ou total em 70 por cento. Na síndrome de Meige, representada por 14 pacientes, a melhora acentuada ou total foi observada em 71,4 por cento. Em 23 pacientes com distonia cervical observou-se melhora acentuada em 65,2 por cento. Distonia da mäo, com 6 pacientes, apresentou o menor índdice de melhora acentuada (2 pacientes, 33,3 por cento). As complicaçöes de caráter transitório ocorreram, sendo as mais frequentes ptose palpebral e diminuiçäo da força palpebral e a mais grave, pneumonia aspirativa. Acreditamos que a toxina Ú forma eficaz e habitualmente segura de tratamento destas condiçöes clínicas.