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1.
Arq Neuropsiquiatr ; 80(3): 316-329, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-35319667

RESUMEN

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.


Asunto(s)
Neurología , Enfermedad de Parkinson , Academias e Institutos , Brasil , Consenso , Humanos , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/terapia
2.
Arq. neuropsiquiatr ; 80(3): 316-329, Mar. 2022. tab
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1383867

RESUMEN

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.

3.
Parkinsonism Relat Disord ; 51: 73-78, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29530725

RESUMEN

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.


Asunto(s)
Distonía/fisiopatología , Trastornos del Movimiento/fisiopatología , Esclerosis Múltiple/fisiopatología , Neuromielitis Óptica/fisiopatología , Adulto , Estudios Transversales , Distonía/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/etiología , Esclerosis Múltiple/complicaciones , Neuromielitis Óptica/complicaciones , Índice de Severidad de la Enfermedad
4.
Parkinsonism Relat Disord ; 48: 93-96, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29279192

RESUMEN

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.


Asunto(s)
Distonía/epidemiología , Distonía/genética , Mutación/genética , Proteínas de Unión al ARN/genética , Adulto , Edad de Inicio , Brasil , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven
5.
Clin Interv Aging ; 12: 2095-2108, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29276379

RESUMEN

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.


Asunto(s)
Costo de Enfermedad , Costos de la Atención en Salud/estadística & datos numéricos , Enfermedad de Parkinson/economía , Anciano , Brasil , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Centros de Atención Terciaria
6.
Parkinsons Dis ; 2017: 3410946, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28357150

RESUMEN

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.

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