ArticleAnnals of neurology2016
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.
Article in Annals of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 225 papers, 10 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genotypic Influences on Network Progression in Parkinson's Disease
Ambroxol as a Disease-modifying Treatment to Reduce the Risk of Cognitive Impairment in GBA-associated Parkinson's Disease. A Multicenter, Randomized, Double-blind, Placebo-controlled, Phase 2 Trial
Who cites it
225 citing papers in PubMed, 10 syntheses or guidelines pooled it, 403 citations in OpenAlex.
- GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility.Movement disorders : official journal of the Movement Disorder Society · 2026Pooled it
- Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2025Pooled it
- Effects of glucocerebrosidase gene variations on the risk of Parkinson's disease dementia: a meta-analysis.Frontiers in aging neuroscience · 2025Pooled it
- Neurological symptoms in adults with Gaucher disease: a systematic review.Journal of neurology · 2024Pooled it
- Motor and Non-motor Outcomes of Deep Brain Stimulation across the Genetic Panorama of Parkinson's Disease: A Multi-Scale Meta-Analysis.Movement disorders clinical practice · 2024Pooled it
- Neuroimaging in Glucocerebrosidase-Associated Parkinsonism: A Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2022Pooled it
- Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.Movement disorders : official journal of the Movement Disorder Society · 2022Pooled it
- Association of gender and age at onset with glucocerebrosidase associated Parkinson's disease: a systematic review and meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2021Pooled it
- Trends in Glucocerebrosides Research: A Systematic Review.Frontiers in physiology · 2020Pooled it
- A Randomized, Double-Blinded, Placebo-Controlled QTc Study to Evaluate BIA 28-6156 Effect on Cardiac Repolarization in Healthy Volunteers.Clinical pharmacology in drug development · 2026Trial
- Faster disease progression in Parkinson's disease with glucocerebrosidase genotype: But not apparent immediate from diagnosis.Journal of Parkinson's disease · 2025Trial
- Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.Journal of Parkinson's disease · 2022Trial
- Does genetic testing remain relevant in advanced Parkinson's disease?Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Review
- Review
- What's in a name? reframing advanced Parkinson's disease as a multidimensional state.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Clinical Trials in GBA1-Associated Parkinson's Disease: A Need for Molecular Classification.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Return of genetic results to persons with Parkinson's disease: Blessing or foe?Journal of Parkinson's disease · 2026Review
- Understanding the genetic imperfections of Lewy body dementia.Molecular neurodegeneration · 2026Review
165 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
21 authors at 5 institutions in 1 country.
Funding
Abstract
objectiveThe objective of this work was to investigate survival, dementia, and genotype-phenotype correlations in patients with Parkinson's disease (PD) with and without mutations on the glucocerebrosidase gene (GBA).
methodsWe included 2,764 unrelated consecutive PD patients: 123 GBA carriers (67 mild-p.N370S and 56 severe mainly p.L444P) and 2,641 noncarriers. Brain perfusion and dopamine transporter imaging was analyzed, including dementia with Lewy Bodies (DLB) as an additional control group.
resultsMultivariable analysis adjusted by sex, age at onset, and disease duration attributed to GBA carriers a greater risk for dementia (hazard ratio [HR] = 3.16; p < 0.001) and death (HR = 1.85; p = 0.002) than noncarriers. When dementia was introduced in the model as a time-dependent covariate, the mortality risk remained greater in carriers (HR = 1.65; p = 0.016), suggesting that other clinical features are likely to contribute to reduced survival. At last examination, GBA carriers had worse motor symptoms, particularly nondopaminergic features. Carriers of severe mutations had greater risk for dementia compared to mild mutations (p < 0.001), but similar mortality risk. Consistent with clinical data, GBA carriers showed reduced posterior parietal and occipital cortical synaptic activity and nigrostriatal function than PD noncarriers. Neuroimaging features of carriers of mild mutations overlapped with PD noncarriers, whereas carriers of severe mutations were closer to DLB.
interpretationSurvival is reduced in GBA carriers compared to noncarriers; this seems to be partially independent from the increased risk for early dementia. The risk for dementia is strongly modulated by type of mutation. In the clinical continuum between PD and DLB, patients with GBA mutations seem to localize midway, with carriers of severe mutations closer to DLB than to idiopathic PD. Ann Neurol 2016;80:662-673.
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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.