ArticleNeurology2014
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.
Article in Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 4 of them syntheses that pooled it.
What it found
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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.
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Who cites it
35 citing papers in PubMed, 4 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm.Neuromolecular medicine · 2019Pooled it
- The Role of MicroRNAs in Patients with Amyotrophic Lateral Sclerosis.Journal of molecular neuroscience : MN · 2018Pooled it
- Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.Journal of neurology · 2016Pooled it
- Pooled it
- Association between C9orf72 G4C2 repeat length and idiopathic Parkinson's disease in a Turkish cohort.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism.Journal of neurology · 2025Article
- Next Generation Sequencing Analysis in Patients Affected by Parkinson's Disease and Correlation Between Genotype and Phenotype in Selected Clinical Cases.International journal of molecular sciences · 2025Article
- Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells.BMC genomics · 2024Article
- Distribution of theFrontiers in neurology · 2024Article
- Differential Expression of Proteins Associated with Bipolar Disorder as Identified Using the PeptideShaker Software.International journal of molecular sciences · 2023Article
- Young Onset Alzheimer's Disease Associated withGenes · 2023Article
- Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis.Journal of neurology · 2023Article
- Differences in Motor Features ofNeurology · 2022Article
- Article
- Article
- Unravelling the clinical spectrum and the role of repeat length inJournal of neurology, neurosurgery, and psychiatry · 2021Review
- Correlation between C9ORF72 mutation and neurodegenerative diseases: A comprehensive review of the literature.International journal of medical sciences · 2021Review
- Clinical Update on C9orf72: Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, and Beyond.Advances in experimental medicine and biology · 2021Article
- Editorial: Celebrating the Diversity of Genetic Research to Dissect the Pathogenesis of Parkinson's Disease.Frontiers in neurology · 2021Article
- Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population.Acta neuropathologica communications · 2020Article
Corrections and comments
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Authors and funding
53 authors at 1 institution in 1 country.
Funding
Abstract
objectivesThe objective of this study is to clarify the role of (G4C2)n expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort.
methodsC9orf72 (G4C2)n repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia.
resultsA pathogenic (G4C2)n>60 expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G4C2)n repeats; however, we could not detect a robust association between the C9orf72 (G4C2)n repeat and PD, and the population attributable risk was low.
conclusionsTogether, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease.
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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.