Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms

Genética da doença de Parkinson no Brasil: revisão sistemática de formas monogênicas

Bruno L. Santos-Lobato Artur Schumacher-Schuh Ignacio F. Mata Grace H. Letro Pedro Braga-Neto Pedro R. P. Brandão Clécio O. Godeiro-Junior Marcus V. Della Coletta Sarah T. Camargos Vanderci Borges Carlos R. M. Rieder Vitor Tumas on behalf of the Brazilian Consortium of Parkinson’s DiseaseAbout the authors



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.


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.


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.


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%).


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.

Genetics; Parkinson’s disease; LRRK2; PRKN

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