ArticleBrain : a journal of neurology2023
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Article in Brain : a journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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.
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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
19 citing papers in PubMed, 27 citations in OpenAlex.
- Frequency and Circumstances of Falls Events in People Living With Spinal and Bulbar Muscular Atrophy: A Cross-Sectional Survey.Physiotherapy research international : the journal for researchers and clinicians in physical therapy · 2026Article
- Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) - September 27-29, 2024, Calgary, Canada.Journal of neuromuscular diseases · 2026Article
- High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis.Annals of neurology · 2026Article
- Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026Review
- Paraspeckle condensation is controlled via TDP-43 polymerization and linked to neuroprotection.Nature cell biology · 2026Article
- Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy.Journal of neurology · 2026Article
- Therapeutic impact of leuprorelin acetate on spinal and bulbar muscular atrophy: pre- and post-marketing observational study.Journal of neurology · 2025Observational
- Kennedy's disease from India: An Indian Cohort with multisystemic manifestations.Journal of neuromuscular diseases · 2025Article
- Kennedy Disease in Latin America: Two New Mexican Cases and a Systematic Review of Regional Reports.Cureus · 2025Article
- The Influence of Trinucleotide Repeats in the Androgen Receptor Gene on Androgen-related Traits and Diseases.The Journal of clinical endocrinology and metabolism · 2024Article
- CAGInternational journal of molecular sciences · 2024Article
- Article
- Increased frequency of repeat expansion mutations across different populations.Nature medicine · 2024Article
- Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2024Article
- Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.European journal of human genetics : EJHG · 2024Review
- Increased frequency of repeat expansion mutations across different populations.medRxiv : the preprint server for health sciences · 2024Article
- Article
- Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.Brain : a journal of neurology · 2024Article
- Therapeutic targeting of the polyglutamine androgen receptor in Spinal and Bulbar Muscular Atrophy.Expert opinion on therapeutic targetsReview
Corrections and comments
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Authors and funding
25 authors at 8 institutions in 4 countries.
Funding
Abstract
CAG repeat expansions in exon 1 of the AR gene on the X chromosome cause spinal and bulbar muscular atrophy, a male-specific progressive neuromuscular disorder associated with a variety of extra-neurological symptoms. The disease has a reported male prevalence of approximately 1:30 000 or less, but the AR repeat expansion frequency is unknown. We established a pipeline, which combines the use of the ExpansionHunter tool and visual validation, to detect AR CAG expansion on whole-genome sequencing data, benchmarked it to fragment PCR sizing, and applied it to 74 277 unrelated individuals from four large cohorts. Our pipeline showed sensitivity of 100% [95% confidence interval (CI) 90.8-100%], specificity of 99% (95% CI 94.2-99.7%), and a positive predictive value of 97.4% (95% CI 84.4-99.6%). We found the mutation frequency to be 1:3182 (95% CI 1:2309-1:4386, n = 117 734) X chromosomes-10 times more frequent than the reported disease prevalence. Modelling using the novel mutation frequency led to estimate disease prevalence of 1:6887 males, more than four times more frequent than the reported disease prevalence. This discrepancy is possibly due to underdiagnosis of this neuromuscular condition, reduced penetrance, and/or pleomorphic clinical manifestations.
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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.