ArticlePloS one2020
A genetic analysis of a Spanish population with early onset Parkinson's disease.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Rethinking 'rare'Journal of Parkinson's disease · 2025Pooled it
- Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families.NPJ Parkinson's disease · 2025Article
- Parkinson's Disease: Bridging Gaps, Building Biomarkers, and Reimagining Clinical Translation.Cells · 2025Review
- Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity.Molecular genetics & genomic medicine · 2025Article
- A Global Perspective ofGenes · 2024Review
- Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.NPJ Parkinson's disease · 2024Article
- A comparative study of structural variant calling in WGS from Alzheimer's disease families.Life science alliance · 2024Article
- Article
- Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.Brain and behavior · 2023Article
- Article
- Genetic Study of Early Onset Parkinson's Disease in Cyprus.International journal of molecular sciences · 2022Article
- Age Cutoff for Early-Onset Parkinson's Disease: Recommendations from the International Parkinson and Movement Disorder Society Task Force on Early Onset Parkinson's Disease.Movement disorders clinical practice · 2022Review
- A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization.Scientific reports · 2022Article
- Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson's disease.Frontiers in neuroscience · 2022Review
- Nuclear and Mitochondrial Genome, Epigenome and Gut Microbiome: Emerging Molecular Biomarkers for Parkinson's Disease.International journal of molecular sciences · 2021Review
- Correction: A genetic analysis of a Spanish population with early onset Parkinson's disease.PloS one · 2021Article
- Review
Corrections and comments
- Erratum issued
Authors and funding
22 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionBoth recessive and dominant genetic forms of Parkinson's disease have been described. The aim of this study was to assess the contribution of several genes to the pathophysiology of early onset Parkinson's disease in a cohort from central Spain. METHODS/PATIENTS: We analyzed a cohort of 117 unrelated patients with early onset Parkinson's disease using a pipeline, based on a combination of a next-generation sequencing panel of 17 genes previously related with Parkinson's disease and other Parkinsonisms and CNV screening.
resultsTwenty-six patients (22.22%) carried likely pathogenic variants in PARK2, LRRK2, PINK1, or GBA. The gene most frequently mutated was PARK2, and p.Asn52Metfs*29 was the most common variation in this gene. Pathogenic variants were not observed in genes SNCA, FBXO7, PARK7, HTRA2, DNAJC6, PLA2G6, and UCHL1. Co-occurrence of pathogenic variants involving two genes was observed in ATP13A2 and PARK2 genes, as well as LRRK2 and GIGYF2 genes.
conclusionsOur results contribute to the understanding of the genetic architecture associated with early onset Parkinson's disease, showing both PARK2 and LRRK2 play an important role in Spanish Parkinson's disease patients. Rare variants in ATP13A2 and GIGYF2 may contribute to PD risk. However, a large proportion of genetic components remains unknown. This study might contribute to genetic diagnosis and counseling for families with early onset Parkinson's disease.
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