ReviewJournal of Parkinson's disease2018
MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease.
Review in Journal of Parkinson's disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2021Pooled it
- Towards biomarker-based diagnosis of Parkinson disease.Nature reviews. Neurology · 2026Review
- Article
- RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- LRRK2 p.G2385R and p.R1628P variants in a multi-ethnic Asian Parkinson's Cohort: epidemiology and clinical insights.NPJ Parkinson's disease · 2025Article
- Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.NPJ Parkinson's disease · 2024Article
- Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Partially Levodopa-Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant.Movement disorders clinical practice · 2024Article
- Towards a Global View of Parkinson's Disease Genetics.Annals of neurology · 2024Review
- Understanding monogenic Parkinson's disease at a global scale.medRxiv : the preprint server for health sciences · 2024Article
- Advancing precision medicine therapeutics for Parkinson's utilizing a shared quantitative systems pharmacology model and framework.Frontiers in systems biology · 2024Article
- Genetic Testing in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).NPJ Parkinson's disease · 2023Article
- LRRK2 and Parkinson's disease: from genetics to targeted therapy.Annals of clinical and translational neurology · 2023Review
- Interplay of gut microbiota and oxidative stress: Perspective on neurodegeneration and neuroprotection.Journal of advanced research · 2022Review
- Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.Journal of neural transmission (Vienna, Austria : 1996) · 2022Article
- Review
- Genetics of synucleins in neurodegenerative diseases.Acta neuropathologica · 2021Review
- Challenges in Clinicogenetic Correlations: One Phenotype - Many Genes.Movement disorders clinical practice · 2021Review
- The Role of VPS35 in the Pathobiology of Parkinson's Disease.Cellular and molecular neurobiology · 2021Review
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Given the rapidly increasing number of reported movement disorder genes and clinical-genetic desciptions of mutation carriers, the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) initiative has been launched in 2016 and grown to become a large international project (http://www.mdsgene.org). MDSGene currently contains >1150 variants described in ∼5700 movement disorder patients in almost 1000 publications including monogenic forms of PD clinically resembling idiopathic (PARK-PINK1, PARK-Parkin, PARK-DJ-1, PARK-SNCA, PARK-VPS35, PARK-LRRK2), as well as of atypical PD (PARK-SYNJ1, PARK-DNAJC6, PARK-ATP13A2, PARK-FBXO7). Inclusion of genes is based on standardized published criteria for determining causation. Clinical and genetic information can be filtered according to demographic, clinical or genetic criteria and summary statistics are automatically generated by the MDSGene online tool. Despite MDSGene's novel approach and features, it also faces several challenges: i) The criteria for designating genes as causative will require further refinement, as well as time and support to replace the faulty list of 'PARKs'. ii) MDSGene has uncovered extensive clinical data gaps. iii) The quickly growing body of clinical and genetic data require a large number of experts worldwide posing logistic challenges. iv) MDSGene currently captures published data only, i.e., a small fraction of the available information on monogenic PD available. Thus, an important future aim is to extend MDSGene to unpublished cases in order to provide the broad data base to the PD community that is necessary to comprehensively inform genetic counseling, therapeutic approaches and clinical trials, as well as basic and clinical research studies in monogenic PD.
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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.