ArticleNeurology2017
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.
Article in Neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 70 citations in OpenAlex.
- Oculopharyngeal Muscular Dystrophy: From Molecular Pathogenesis to Gene Therapy.Molecular neurobiology · 2026Review
- Frontotemporal lobar degeneration in a patient carrying a pathogenic PABPN1 expansion.Neuroradiology · 2026Article
- What is known about muscle weakness, balance impairments and indoor mobility limitations in oculopharyngeal muscular dystrophy? A scoping review.Journal of neuromuscular diseases · 2026Article
- The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel.Orphanet journal of rare diseases · 2026Article
- Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort.International journal of molecular sciences · 2026Article
- A Novel Mutation of the FBN1 Gene in a Chinese Family With Marfan Syndrome and Unanticipated Discoveries of Family Members.Genetics research · 2026Article
- Transcriptional regulation of porcine PABPN1 gene in adipogenesis.Animal bioscience · 2025Article
- Insights into the heterogeneity of oculopharyngeal muscular dystrophy.Neurogenetics · 2025Article
- Disease-specific genetic diagnostic strategies for muscle diseases unresolved by short-read sequencing.Journal of human genetics · 2025Review
- Perioperative Considerations in a Patient With Oculopharyngeal Muscular Dystrophy: A Case Report.Cureus · 2025Article
- Polyalanine Expansion in PABPN1 Alters the Structure and Dynamics of Its Nuclear Aggregates in Differentiated Muscle Cells.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy.Journal of neuromuscular diseases · 2025Article
- Article
- Review
- Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.Brain : a journal of neurology · 2024Article
- Muscle MRI in Patients With Oculopharyngeal Muscular Dystrophy: A Longitudinal StudyNeurology · 2024Article
- Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.The EMBO journal · 2024Article
- Oculopharyngeal muscular dystrophy mutations link the RNA-binding protein HNRNPQ to autophagosome biogenesis.Aging cell · 2023Article
- Abnormal phase separation of biomacromolecules in human diseases.Acta biochimica et biophysica Sinica · 2023Review
- The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.Annals of clinical and translational neurology · 2023Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveOculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1. We hypothesized a potential correlation between the size of the (GCN)n expansion and the severity of the phenotype. To do this, we characterized the distribution of the genotypes as well as their correlation with age at diagnosis and phenotypical features in a large cohort of heterozygous and homozygous patients with OPMD in France with a confirmed molecular diagnosis of PABPN1.
methodsWe explored 354 unrelated index cases recruited between 1999 and 2014 in several neuromuscular centers in France.
resultsThis cohort allowed us to characterize the frequency of mutated alleles in the French population and to demonstrate a statistical correlation between the size of the expansion and the mean age at diagnosis. We also confirmed that homozygous patients present with a more severe disease.
conclusionsIt has been difficult to establish phenotype-genotype correlations because of the rare nature of this disease. Our work demonstrates that patients with OPMD with longer PABPN1 expansion are on average diagnosed at an earlier age than patients with a shorter expansion, confirming that polyalanine expansion size plays a role in OPMD, with an effect on disease severity and progression.
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