ArticleMolecular neurodegeneration2016
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.
Article in Molecular neurodegeneration, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.
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Who cites it
45 citing papers in PubMed, 2 syntheses or guidelines pooled it, 78 citations in OpenAlex.
- Rethinking 'rare'Journal of Parkinson's disease · 2025Pooled it
- Role of mitochondria DNA A10398G polymorphism on development of Parkinson's disease: A PRISMA-compliant meta-analysis.Journal of clinical laboratory analysis · 2022Pooled it
- ThemedRxiv : the preprint server for health sciences · 2026Article
- Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration.Molecular neurodegeneration · 2026Article
- Protein-based Diagnosis and Analysis of Co-pathologies Across Neurodegenerative Diseases: Large-Scale AI-Boosted CSF and Plasma Classification.Research square · 2025Article
- Protein-based Diagnosis and Analysis of Co-pathologies Across Neurodegenerative Diseases: Large-Scale AI-Boosted CSF and Plasma Classification.medRxiv : the preprint server for health sciences · 2025Article
- Large-scale plasma proteomic profiling unveils diagnostic biomarkers and pathways for Alzheimer's disease.Nature aging · 2025Article
- The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.NPJ Parkinson's disease · 2025Article
- CRISPR-Cas technologies in neurodegenerative disorders: mechanistic insights, therapeutic potential, and translational challenges.Frontiers in neurology · 2025Review
- TheResearch square · 2024Article
- Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.Brain : a journal of neurology · 2024Observational
- Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.Brain : a journal of neurology · 2024Observational
- Article
- Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson's Disease in Sporadic Moroccan Patients.Journal of molecular neuroscience : MN · 2023Article
- The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.NPJ Parkinson's disease · 2023Article
- A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.NPJ Parkinson's disease · 2023Article
- Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.Movement disorders : official journal of the Movement Disorder Society · 2023Review
- The Role of Voltage-Gated Calcium Channels in Basal Ganglia Neurodegenerative Disorders.Current neuropharmacology · 2023Review
- LRRK2 dynamics analysis identifies allosteric control of the crosstalk between its catalytic domains.PLoS biology · 2022Article
- Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundMost sequencing studies in Parkinson's disease (PD) have focused on either a particular gene, primarily in familial and early onset PD samples, or on screening single variants in sporadic PD cases. To date, there is no systematic study that sequences the most common PD causing genes with Mendelian inheritance [α-synuclein (SNCA), leucine-rich repeat kinase 2 (LRRK2), PARKIN, PTEN-induced putative kinase 1 (PINK1) and DJ-1 (Daisuke-Junko-1)] and susceptibility genes [glucocerebrosidase beta acid (GBA) and microtubule-associated protein tau (MAPT)] identified through genome-wide association studies (GWAS) in a European-American case-control sample (n=815).
resultsDisease-causing variants in the SNCA, LRRK2 and PARK2 genes were found in 2% of PD patients. The LRRK2, p.G2019S mutation was found in 0.6 % of sporadic PD and 4.8 % of familial PD cases. Gene-based analysis suggests that additional variants in the LRRK2 gene also contribute to PD risk. The SNCA duplication was found in 0.8 % of familial PD patients. Novel variants were found in 0.8% of PD cases and 0.6 % of controls. Heterozygous Gaucher disease-causing mutations in the GBA gene were found in 7.1 % of PD patients. Here, we established that the GBA variant (p.T408M) is associated with PD risk and age at onset. Additionally, gene-based and single-variant analyses demostrated that GBA gene variants (p.L483P, p.R83C, p.N409S, p.H294Q and p.E365K) increase PD risk.
conclusionsOur data suggest that the impact of additional untested coding variants in the GBA and LRRK2 genes is higher than previously estimated. Our data also provide compelling evidence of the existence of additional untested variants in the primary Mendelian and PD GWAS genes that contribute to the genetic etiology of sporadic PD.
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