ArticleAnnals of neurology2020
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Open access · bronzeAbstract readMulticenter Study
In one paragraph
Article in Annals of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 1 pooled it
3.3field-weighted citation impact, top 6% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Rethinking 'rare'Journal of Parkinson's disease · 2025Pooled it
- Parkinson's disease genetics across diverse ancestries: an observational genetic study of causal and risk variants with translational implications.The Lancet. Neurology · 2026Observational
- Emerging insight in genetics and therapies in young-onset Parkinson's disease (YOPD): a comprehensive review.Journal of neurology · 2026Review
- High molecular weight insoluble parkin in the substantia nigra of patients with idiopathic Parkinson's disease.NPJ Parkinson's disease · 2026Article
- Mitochondrial resilience: a convergent framework for pathogenesis and neuroprotection in Parkinson's disease.Frontiers in pharmacology · 2026Review
- Molecular pathways linking chronic psychological stress to accelerated aging: mechanisms and interventions.Frontiers in aging · 2026Review
- Role of Oxidative Stress in Human Neurodegenerative Pathologies: Lessons from theCurrent topics in medicinal chemistry · 2026Review
- Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families.NPJ Parkinson's disease · 2025Article
- Genetically encoded and modular subcellular organelle probes reveal dysfunction in lysosomes and mitochondria driven by PRKN knockout.iScience · 2025Article
- The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.medRxiv : the preprint server for health sciences · 2025Article
- Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background.Biomedicines · 2025Review
- Genetically Encoded and Modular SubCellular Organelle Probes (GEM-SCOPe) reveal lysosomal and mitochondrial dysfunction driven bybioRxiv : the preprint server for biology · 2025Article
- Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations.medRxiv : the preprint server for health sciences · 2025Article
- Article
- Confirmation of RAB32 Ser71Arg Involvement in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- The Comparison of Functional Connectivity in Parkinson's Disease Patients with and without Parkin Gene Mutations.Noro psikiyatri arsivi · 2025Article
- Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases.Developmental medicine and child neurology · 2025Article
- Dopamine neuron dysfunction and loss in the PrknR275W mouse model of juvenile parkinsonism.Brain : a journal of neurology · 2024Article
- Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- PRKN-linked familial Parkinson's disease: cellular and molecular mechanisms of disease-linked variants.Cellular and molecular life sciences : CMLS · 2024Review
Corrections and comments
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Authors and funding
34 authors at 15 institutions in 9 countries.
Suzanne LesageResearch Unit UMR 1127, Sorbonne University, Paris, France.ORCID 0000-0003-4158-2601
Ariane LunatiResearch Unit UMR 1127, Sorbonne University, Paris, France.
Marion HouotInstitute of Memory and Alzheimer's Disease, Center of Excellence for Neurodegenerative Diseases, Public Hospital Network of Paris, Department of Neurology, Pitié-Salpêtrière Hospital, University of Paris 6, Paris, France.
Sawssan Ben RomdhanResearch Unit UMR 1127, Sorbonne University, Paris, France.
Fabienne ClotFunctional Unit of Molecular and Cellular Neurogenetics, Department of Genetics, Public Hospital Network of Paris, University Hospitals of La Pitié Salpêtrière-Charles Foix, Paris, France.
Christelle TessonResearch Unit UMR 1127, Sorbonne University, Paris, France.
Graziella MangoneClinical Investigation Center, Pitié Neurosciences CIC-1422, Paris, France.
Benjamin Le ToullecClinical Investigation Center, Pitié Neurosciences CIC-1422, Paris, France.
Thomas CourtinResearch Unit UMR 1127, Sorbonne University, Paris, France.
Kathy LarcherFunctional Unit of Molecular and Cellular Neurogenetics, Department of Genetics, Public Hospital Network of Paris, University Hospitals of La Pitié Salpêtrière-Charles Foix, Paris, France.
Mustapha BenmahdjoubFrantz Fanon Hospital, University Hospital Center of Blida, Blida, Algeria.
Mohamed ArezkiFrantz Fanon Hospital, University Hospital Center of Blida, Blida, Algeria.
Ahmed BouhoucheResearch Unit in Neurology and Neurogenetics, Department of Neurology B and Neurogenetics, Faculty of Medicine and Pharmacy, Specialty Hospital ONO, Mohammed V University, Rabat, Morocco.
Mathieu AnheimDepartment of Neurology, University Hospitals of Strasbourg, Strasbourg, France.
Emmanuel RozeResearch Unit UMR 1127, Sorbonne University, Paris, France.
François VialletDepartment of Neurology, Intercommunal Hospital Center of Aix-Pertuis, Aix-en-Provence, France.
François TisonDepartment of Neurology, Pellegrin Hospital, University Hospital Center of Bordeaux, Bordeaux, France.
Emmanuel BroussolleResearch Unit UMR 5229, Marc-Jeannerod Institute of Cognitive Science, French National Center for Scientific Research, University of Lyon, Bron, France.
Murat EmreBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Hasmet HanagasiBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Basar BilgicBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Meriem TazirDepartment of Neurology, Mustapha Bacha University Hospital, Algiers, Algeria.
Mouna Ben DjebaraDepartment of Neurology, Faculty of Medicine of Tunis, Clinical Investigation Center, Razi University Hospital, Tunis, Tunisia.
Riadh GouiderDepartment of Neurology, Faculty of Medicine of Tunis, Clinical Investigation Center, Razi University Hospital, Tunis, Tunisia.
Christine TranchantDepartment of Neurology, University Hospitals of Strasbourg, Strasbourg, France.
Marie VidailhetResearch Unit UMR 1127, Sorbonne University, Paris, France.
Eric Le GuernResearch Unit UMR 1127, Sorbonne University, Paris, France.
Olga CortiResearch Unit UMR 1127, Sorbonne University, Paris, France.
Chokri MhiriResearch Unit in Neurogenetics, Clinical Investigation Center, Habib Bourguiba University Hospital Center, Sfax, Tunisia.
Ebba LohmannBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Andrew SingletonLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.
Jean-Christophe CorvolResearch Unit UMR 1127, Sorbonne University, Paris, France.
Alexis BriceResearch Unit UMR 1127, Sorbonne University, Paris, France.
French Parkinson Disease Genetics Study Group
Allen Institute for Brain Science · USIstanbul University · TRInstitut de génétique et de biologie moléculaire et cellulaire · FRMilitary Hospital of Tunis · TNUniversity of Blida · DZAix-Marseille Université · FRGlobal Strategy Group · USHertie Institute for Clinical Brain Research · DEHôpital Mustapha Pacha · DZHopital Universitaire Habib Bourguiba · TNMohammed V University · MANational Institutes of Health · USSorbonne Université · FRUniversité Claude Bernard Lyon 1 · FRUniversité de Bordeaux · FR
Funding
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6MWhole Genome Screen in families with Parkinson's diseaseZ01AG000958 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2003 to 2008
$1.4MIntramural NIH HHS Z01 AG000949Intramural NIH HHS Z01 AG000958Intramural Research Program of the National Institute on Aging, National Institutes of Health, Department of Health and Human Services ZO1 AG000949
Abstract
Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1,587 cases. Mutations were found in 14.1% of patients; 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians, whereas PINK1 mutations predominated in Arab-Berber individuals. Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa-induced motor complications, dysautonomia, and dementia than those without mutations. ANN NEUROL 2020;88:843-850.
Indexed as
AdolescentAdultAgedAged, 80 and overChildDNA Mutational AnalysisFemaleGenes, RecessiveGenetic Predisposition to DiseaseHumansMaleMiddle AgedMutationParkinson DiseaseProtein Deglycase DJ-1Protein KinasesPARK7 protein, humanparkin proteinProtein Deglycase DJ-1Protein KinasesPTEN-Induced Putative KinaseUbiquitin-Protein Ligases
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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.