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Genetics of Parkinson's disease in Brazil: a systematic review of monogenic forms.
Santos-Lobato, Bruno L; Schumacher-Schuh, Artur; Mata, Ignacio F; Letro, Grace H; Braga-Neto, Pedro; Brandão, Pedro R P; Godeiro-Junior, Clécio O; Coletta, Marcus V Della; Camargos, Sarah T; Borges, Vanderci; Rieder, Carlos R M; Tumas, Vitor.
Afiliación
  • Santos-Lobato BL; Universidade Federal do Pará, Laboratório de Neuropatologia Experimental, Belém PA, Brazil.
  • Schumacher-Schuh A; Hospital Ophir Loyola, Serviço de Neurologia, Belém PA, Brazil.
  • Mata IF; Hospital de Clínicas de Porto Alegre, Serviço de Neurologia, Porto Alegre RS, Brazil.
  • Letro GH; Universidade Federal do Rio Grande do Sul, Departamento de Farmacologia, Porto Alegre RS, Brazil.
  • Braga-Neto P; Lerner Research Institute, Genomic Medicine, Cleveland Clinic, Cleveland, OH, USA.
  • Brandão PRP; Pontifícia Universidade Católica de Campinas, Centro de Ciências da Vida, Campinas SP, Brazil.
  • Godeiro-Junior CO; Universidade Federal do Ceará, Departamento de Medicina Clínica, Serviço de Neurologia e Neurocirurgia, Fortaleza CE, Brazil.
  • Coletta MVD; Universidade de Brasília, Laboratório de Neurociências e Comportamento, Brasília DF, Brazil.
  • Camargos ST; Universidade Federal do Rio Grande do Norte, Departamento de Medicina Integrada, Natal RN, Brazil.
  • Borges V; Universidade do Estado do Amazonas, Fundação Hospital Adriano Jorge, Manaus AM, Brazil.
  • Rieder CRM; Universidade Federal de Minas Gerais, Departamento de Medicina Interna, Belo Horizonte MG, Brazil.
  • Tumas V; Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Setor de Transtornos de Movimento, São Paulo SP, Brazil.
Arq Neuropsiquiatr ; 79(7): 612-623, 2021 07.
Article en En | MEDLINE | ID: mdl-34468500
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson Tipo de estudio: Risk_factors_studies / Systematic_reviews Límite: Humans País/Región como asunto: America do sul / Brasil / Europa Idioma: En Revista: Arq Neuropsiquiatr Año: 2021 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: ALEMANHA / ALEMANIA / DE / DEUSTCHLAND / GERMANY

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson Tipo de estudio: Risk_factors_studies / Systematic_reviews Límite: Humans País/Región como asunto: America do sul / Brasil / Europa Idioma: En Revista: Arq Neuropsiquiatr Año: 2021 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: ALEMANHA / ALEMANIA / DE / DEUSTCHLAND / GERMANY