2021
DOI: 10.1590/0004-282x-anp-2020-0409
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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 futu… Show more

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Cited by 3 publications
(4 citation statements)
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“…It should be emphasized that very few studies have been published on a large-scale analysis of multiple genes. Thus, a metaanalysis covering all major PD genes in Brazilian patients was conducted in [42] revealing that the most frequent point mutations were in the LRRK2 gene (2.5% of patients, with the p.Gly2019Ser mutation being found in 2.2% of cases). Mutations in the parkin gene were found in 8.3% of patients [42].…”
Section: Monogenic Forms Of Parkinson's Diseasementioning
confidence: 99%
See 1 more Smart Citation
“…It should be emphasized that very few studies have been published on a large-scale analysis of multiple genes. Thus, a metaanalysis covering all major PD genes in Brazilian patients was conducted in [42] revealing that the most frequent point mutations were in the LRRK2 gene (2.5% of patients, with the p.Gly2019Ser mutation being found in 2.2% of cases). Mutations in the parkin gene were found in 8.3% of patients [42].…”
Section: Monogenic Forms Of Parkinson's Diseasementioning
confidence: 99%
“…Thus, a metaanalysis covering all major PD genes in Brazilian patients was conducted in [42] revealing that the most frequent point mutations were in the LRRK2 gene (2.5% of patients, with the p.Gly2019Ser mutation being found in 2.2% of cases). Mutations in the parkin gene were found in 8.3% of patients [42]. In Ireland, the analysis was limited to mutations in the PRKN, DJ1, and PINK1 genes and patients with the early onset PD, and only mutations in the PRKN gene were detected in 6.9% of the examined patients [31].…”
Section: Monogenic Forms Of Parkinson's Diseasementioning
confidence: 99%
“…11,[13][14][15][16] The frequency of monogenic parkinsonism in populations such as those in Latin America is understudied, with only 10% of all research on the genetics of parkinsonism being conducted in this region. 17,18 Latinos are a heterogeneous population that typically exhibits a three-way admixture pattern, resulting from contributions from African, European, and Native American ancestry. Previous studies have shown differences in the frequency of specific monogenic parkinsonism between the Latino population and others.…”
mentioning
confidence: 99%
“…However, most of the published data on monogenic PD and related parkinsonian syndromes derived from patients of European and Asian ancestry 11,13–16 . The frequency of monogenic parkinsonism in populations such as those in Latin America is understudied, with only 10% of all research on the genetics of parkinsonism being conducted in this region 17,18 . Latinos are a heterogeneous population that typically exhibits a three‐way admixture pattern, resulting from contributions from African, European, and Native American ancestry.…”
mentioning
confidence: 99%