ArticlePloS one2016
GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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Who cites it
60 citing papers in PubMed, 106 citations in OpenAlex.
- Faster disease progression in Parkinson's disease with glucocerebrosidase genotype: But not apparent immediate from diagnosis.Journal of Parkinson's disease · 2025Trial
- Pathways and Genetic Determinants of Impulse Control Disorders in Parkinson's Disease.Life (Basel, Switzerland) · 2026Review
- Clinical and Biological Determinants of Longitudinal Cognitive Function in Patients With GBA1 Variants and Subthalamic Deep Brain Stimulation.Annals of neurology · 2026Article
- Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson's Disease Patients.Movement disorders clinical practice · 2026Article
- Multi-omics insights into GBA1-associated Parkinson's disease: interplay of genomics, transcriptomics, proteomics, and lipidomics.Molecular neurodegeneration · 2026Review
- Review
- Genetic Modifiers of Parkinson's Disease: A Case-Control Study.Annals of clinical and translational neurology · 2025Observational
- Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With aNeurology · 2025Article
- Is GBA1 mutation status a game-changer for impulse control behaviour in Parkinson's disease?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.Translational neurodegeneration · 2024Review
- Gaucher disease provides a unique window into Parkinson disease pathogenesis.Nature reviews. Neurology · 2024Review
- Longitudinal cognitive decline characterizes the profile of non-PD-manifest GBA1 mutation carriers.NPJ Parkinson's disease · 2024Article
- Genetics in Parkinson's disease, state-of-the-art and future perspectives.British medical bulletin · 2024Review
- Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort.Journal of neurology, neurosurgery, and psychiatry · 2024Article
- The Genetic Landscape of Sleep Disorders in Parkinson's Disease.Diagnostics (Basel, Switzerland) · 2024Review
- Clinical prediction ofClinical parkinsonism & related disorders · 2024Article
- Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.NPJ Parkinson's disease · 2023Article
- GBA1 Variants and Parkinson's Disease: Paving the Way for Targeted Therapy.Journal of movement disorders · 2023Article
- LRRK2 and Parkinson's disease: from genetics to targeted therapy.Annals of clinical and translational neurology · 2023Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson's disease (PD). Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson's patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021), earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013), as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants.
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