Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de neuro-psiquiatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021000700612 |
Resumo: | 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. |
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Arquivos de neuro-psiquiatria (Online) |
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Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic formsGeneticsParkinson’s diseaseLRRK2PRKNABSTRACT 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.Academia Brasileira de Neurologia - ABNEURO2021-07-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021000700612Arquivos de Neuro-Psiquiatria v.79 n.7 2021reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282x-anp-2020-0409info:eu-repo/semantics/openAccessSantos-Lobato,Bruno L.Schumacher-Schuh,ArturMata,Ignacio F.Letro,Grace H.Braga-Neto,PedroBrandão,Pedro R. P.Godeiro-Junior,Clécio O.Coletta,Marcus V. DellaCamargos,Sarah T.Borges,VanderciRieder,Carlos R. M.Tumas,Vitoreng2021-08-23T00:00:00Zoai:scielo:S0004-282X2021000700612Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2021-08-23T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms |
title |
Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms |
spellingShingle |
Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms Santos-Lobato,Bruno L. Genetics Parkinson’s disease LRRK2 PRKN |
title_short |
Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms |
title_full |
Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms |
title_fullStr |
Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms |
title_full_unstemmed |
Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms |
title_sort |
Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms |
author |
Santos-Lobato,Bruno L. |
author_facet |
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 |
author_role |
author |
author2 |
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 |
author2_role |
author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
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 |
dc.subject.por.fl_str_mv |
Genetics Parkinson’s disease LRRK2 PRKN |
topic |
Genetics Parkinson’s disease LRRK2 PRKN |
description |
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. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-07-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021000700612 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021000700612 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/0004-282x-anp-2020-0409 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
dc.source.none.fl_str_mv |
Arquivos de Neuro-Psiquiatria v.79 n.7 2021 reponame:Arquivos de neuro-psiquiatria (Online) instname:Academia Brasileira de Neurologia instacron:ABNEURO |
instname_str |
Academia Brasileira de Neurologia |
instacron_str |
ABNEURO |
institution |
ABNEURO |
reponame_str |
Arquivos de neuro-psiquiatria (Online) |
collection |
Arquivos de neuro-psiquiatria (Online) |
repository.name.fl_str_mv |
Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia |
repository.mail.fl_str_mv |
||revista.arquivos@abneuro.org |
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1754212789129314304 |