ABSTRACT Background: Increasing numbers of mutations causing monogenic forms of Parkinson's disease (PD) have been described, mostly among patients in Europe and North America. Since genetic architecture varies between different populations, studying the specific genetic profile of Brazilian patients is essential for improving genetic counseling and for selecting patients for clinical trials. Objective: We conducted a systematic review to identify genetic studies on Brazilian patients and to set a background for future studies on monogenic forms of PD in Brazil. Methods: We searched MEDLINE, EMBASE and Web of Science from inception to December 2019 using terms for "Parkinson's disease", "genetics" and "Brazil". Two independent reviewers extracted the data. For the genes LRRK2 and PRKN, the estimated prevalence was calculated for each study, and a meta-analysis was performed. Results: A total of 32 studies were included, comprising 94 Brazilian patients with PD with a causative mutation, identified from among 2,872 screened patients (3.2%). PRKN mutations were causative of PD in 48 patients out of 576 (8.3%). LRRK2 mutations were identified in 40 out of 1,556 patients (2.5%), and p.G2019S was the most common mutation (2.2%). Conclusions: PRKN is the most common autosomal recessive cause of PD, and LRRK2 is the most common autosomal dominant form. We observed that there was a lack of robust epidemiological studies on PD genetics in Brazil and, especially, that the diversity of Brazil’s population had not been considered.

RESUMO Introdução: Um número crescente de mutações causando formas monogênicas de doença de Parkinson (DP) tem sido descrito, principalmente entre pacientes da Europa e da América do Norte. Como a arquitetura genética varia entre diferentes populações, entender os perfis genéticos específicos de pacientes brasileiros é essencial para um melhor aconselhamento genético e para a seleção de participantes para ensaios clínicos. Objetivo: Revisão sistemática para identificar estudos genéticos brasileiros na área e definir o cenário para estudos futuros das formas monogênicas de DP no Brasil. Métodos: Nós pesquisamos as bases de dados MEDLINE, EMBASE e Web of Science desde a criação até dezembro de 2019, usando termos para “Parkinson’s disease”, “genetics” e “Brazil”. A extração de dados foi feita por dois revisores independentes. Para os genes LRRK2 e PRKN, calculamos a prevalência estimada para cada estudo e realizamos uma meta-análise. Resultados: Um total de 32 estudos foram incluídos e 94 pacientes brasileiros com DP com mutações causativas foram identificados em 2872 pacientes avaliados (3.2%). As mutações no PRKN causaram DP em 48 de 576 pacientes (8.3%). As mutações no LRRK2 foram identificadas em 40 de 1566 pacientes (2.5%), sendo a mutação mais comum a p.G2019S (2.2%). Conclusões: As mutações na PRKN são a causa mais comum de DP autossômica recessiva, e as mutações no LRRK2 a causa mais comum de DP autossômica dominante. Nós observamos uma falta de estudos epidemiológicos robustos em genética de DP, especialmente por não levar em conta a diversidade de nossa população.

OBJECTIVE: To identify environmental and personal factors associated with social participation in adults with various diseases/health conditions residing in the urban areas of the Belo Horizonte Metropolitan Region, Minas Gerais, Brazil. METHODS: Individual characteristics, social participation, and perception of environmental barriers of 226 patients treated at a public rehabilitation referral service were evaluated. Regression analyses with hierarchical entry of data were performed to verify the association of personal and environmental factors with social participation. RESULTS: More years of schooling, being engaged in the labor market, and consuming alcohol are conditions that increase the social participation of patients. Natural environment, transportation, access to health services, and social capital are perceived as the most important barriers to participation. Based on the linear regression analysis, the adjusted coefficient (R²adj) of the full model was 0.42 (P = 0.000). CONCLUSIONS: The results of this study may contribute to the planning and implementation of interventions and public policies at the individual and contextual level that are considered appropriate for reducing barriers and facilitate full participation.

OBJETIVO: Determinar los factores ambientales y personales asociados con la participación social de los adultos, en diversas situaciones de enfermedad o salud, que residen en las zonas urbanas de la Región Metropolitana de Belo Horizonte, del estado de Minas Gerais (Brasil). MÉTODOS: Se evaluaron las características individuales, la participación social y la percepción de las barreras ambientales de 226 pacientes tratados en un servicio público de rehabilitación de referencia. Se llevaron a cabo análisis de regresión con entrada jerárquica de los datos para comprobar la asociación de los factores personales y ambientales con la participación social. RESULTADOS: Un mayor número de años de escolarización, estar ocupado en el mercado de trabajo y el consumo de alcohol son condiciones que aumentan la participación social de los pacientes. El entorno natural, el transporte, el acceso a los servicios de salud y el capital social se perciben como las barreras más importantes a la participación. Con base en el análisis de regresión lineal, el coeficiente ajustado (R²aj) del modelo total fue de 0,42 (P = 0,000). CONCLUSIONES: Los resultados de este estudio pueden contribuir a la planificación y la ejecución de las intervenciones y políticas públicas a escalas individual y contextual que se consideren apropiadas para reducir las barreras y facilitar la plena participación.