Dataset Information

Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.

ABSTRACT:

Background

Genetic factors play a crucial role in the pathogenesis of Parkinson's disease (PD). However, no comprehensive study has described genetic alterations in Vietnamese patients diagnosed with PD. This study aimed to identify genetic causes and their association with clinical phenotypes in a Vietnamese PD cohort.

Methods

A total of 83 patients with early-onset PD (disease onset before the age of 50) were recruited for genetic analysis using a combination of multiplex ligation-dependent probe amplification and next-generation sequencing for a panel of 20 PD-associated genes.

Results

It was found that 37 out of 83 patients carried genetic alterations, with 24 pathogenic/likely pathogenic/risk variants and 25 variants of uncertain significance. The pathogenic/likely pathogenic/risk variants were mostly detected in LRRK2, PRKN, and GBA, while the variants of uncertain significance were identified in 12 different genes that were studied. The most common genetic alteration was LRRK2 c.4883G>C (p.Arg1628Pro), and patients with PD carrying this variant were found to have a distinct phenotype. Participants carrying pathogenic/likely pathogenic/risk variants had a significantly higher rate of a family history of PD.

Conclusion

These results provide a further understanding of genetic alterations associated with PD in a South-East Asian population.

SUBMITTER: Do MD

PROVIDER: S-EPMC10097096 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature

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Publications

Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.

Do Minh Duc MD Tran Tai Ngoc TN Luong An Bac AB Le Linh Hoang Gia LHG Van Le Tuan T Le Khuong Thai KT Van Vo Niem Thanh NT Le Thuc-Nhi Nguyen TN Vu Hoang Anh HA Mai Thao Phuong TP

Brain and behavior 20230306 4

<h4>Background</h4>Genetic factors play a crucial role in the pathogenesis of Parkinson's disease (PD). However, no comprehensive study has described genetic alterations in Vietnamese patients diagnosed with PD. This study aimed to identify genetic causes and their association with clinical phenotypes in a Vietnamese PD cohort.<h4>Methods</h4>A total of 83 patients with early-onset PD (disease onset before the age of 50) were recruited for genetic analysis using a combination of multiplex ligati ...[more]

PMID: 36879366

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Project description:BackgroundGenetic factors play an important role in the pathogenesis of early-onset Parkinson's disease (EOPD). To date, more than 20 pathogenic genes associated with Parkinson's disease (PD) have been identified. This study aims to explore the mutation spectrum of EOPD and the clinical characteristics of mutation carriers in eastern China.MethodsWe recruited 155 unrelated EOPD patients, including 8 familial and 147 sporadic EOPD (age at onset ≤ 50 years). Overall, 24 known PD-associated genes were detected by whole exome sequencing and multiplex ligation-dependent probe amplification (MLPA) from patient samples. The genetic and clinical characteristics of pathogenic/likely pathogenic (P/LP) loci in this cohort were analyzed.ResultsOverall, 14 (9.03%) patients were detected with P/LP variants distributed in seven genes. The most frequent mutation occurred in PRKN (7/155, 4.52%), followed by LRRK2 (2/155, 1.29%), SNCA, CHCHD2, TMEM230, DNAJC13 and PLA2G6 (1/155, 0.64%, respectively). Exon rearrangement mutations accounted for 57.9% (11/19) of all mutations in PRKN. Four novel variants were detected: c.14T > C (p.M5T) in SNCA, c.297C > A (p.Y99X) in CHCHD2, c.2578C > T (p.R860C) in DNAJC13 and c.4C > T (p.Q2X) in TMEM230. We found the first case of LRRK2 c.6055G > A (p.G2019S) mutation in Chinese population. The median onset age of patients with P/LP mutations in autosomal recessive genes (PRKN and PLA2G6) was about 18.0 years earlier than patients without mutation. The proportion of patients with mutations were 63.64%, 27.03% and 9.68% when patients were stratified according to the age of onset at ≤ 30, ≤ 40 and ≤ 50 years, respectively.ConclusionEarly-onset Parkinson's disease patients from eastern China present a regional specific mutation spectrum. Analysis of larger patient cohorts is required to support these findings, and mechanistic studies of the four novel missense/non-sense mutations will clarify their role in the pathogenicity of EOPD.

Dataset Information

Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.

Background

Methods

Results

Conclusion

Publications

Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.

Similar Datasets

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