ArticleNPJ Parkinson's disease2023
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
Article in NPJ Parkinson's disease, 2023. 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 20 papers.
What it found
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The trial behind it
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Who cites it
20 citing papers in PubMed, 24 citations in OpenAlex.
- An Icelandic pangenome reference.Nature · 2026Article
- Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches.Journal of human genetics · 2026Article
- Interplay of GBA1 with lysosomal dysfunction and inflammation in Parkinson's disease.Neural regeneration research · 2026Article
- Genome-wide association and population-tailored polygenic risk for Parkinson's disease in Taiwan.NPJ Parkinson's disease · 2026Article
- Precision prevention for neurodegenerative diseases: lessons learnt from Alzheimer's disease translated into perspectives for Parkinson's disease.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Clinical Utility ofGenes · 2026Review
- Progression ofFrontiers in aging neuroscience · 2026Article
- Current and emerging drugs for Parkinson's disease: mechanisms, clinical evidence, and future directions.Frontiers in pharmacology · 2026Review
- Entering the era of precision medicine to treat amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Review
- Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.NPJ Parkinson's disease · 2025Article
- Long-Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Reply to: Is Gauchian genotyping of GBA1 variants reliable?Communications biology · 2025Article
- The Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease.Annals of neurology · 2025Article
- Advances in AAV-mediated gene replacement therapy for pediatric monogenic neurological disorders.Molecular therapy. Methods & clinical development · 2024Review
- Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.Translational neurodegeneration · 2024Review
- Genetically stratified Parkinson's disease with freezing of gait is related to specific pattern of cognitive impairment and non-motor dominant endophenotype.Frontiers in aging neuroscience · 2024Article
- Converging peripheral blood microRNA profiles in Parkinson's disease and progressive supranuclear palsy.Brain communications · 2024Article
- Genetic landscape of Parkinson's disease and related diseases in Luxembourg.Frontiers in aging neuroscience · 2023Article
- Retrograde procedural memory is impaired in people with Parkinson's disease with freezing of gait.Frontiers in aging neuroscience · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 13 institutions in 4 countries.
Funding
Abstract
Heterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly recognized risk factor for Parkinson's disease (PD). Due to the GBAP1 pseudogene, which shares 96% sequence homology with the GBA1 coding region, accurate variant calling by array-based or short-read sequencing methods remains a major challenge in understanding the genetic landscape of GBA1-associated PD. We analyzed 660 patients with PD, 100 patients with Parkinsonism and 808 healthy controls from the Luxembourg Parkinson's study, sequenced using amplicon-based long-read DNA sequencing technology. We found that 12.1% (77/637) of PD patients carried GBA1 variants, with 10.5% (67/637) of them carrying known pathogenic variants (including severe, mild, risk variants). In comparison, 5% (34/675) of the healthy controls carried GBA1 variants, and among them, 4.3% (29/675) were identified as pathogenic variant carriers. We found four GBA1 variants in patients with atypical parkinsonism. Pathogenic GBA1 variants were 2.6-fold more frequently observed in PD patients compared to controls (OR = 2.6; CI = [1.6,4.1]). Three novel variants of unknown significance (VUS) were identified. Using a structure-based approach, we defined a potential risk prediction method for VUS. This study describes the full landscape of GBA1-related parkinsonism in Luxembourg, showing a high prevalence of GBA1 variants as the major genetic risk for PD. Although the long-read DNA sequencing technique used in our study may be limited in its effectiveness to detect potential structural variants, our approach provides an important advancement for highly accurate GBA1 variant calling, which is essential for providing access to emerging causative therapies for GBA1 carriers.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.