ArticleNeurology2016
Huntington disease reduced penetrance alleles occur at high frequency in the general population.
Article in Neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 103 citations in OpenAlex.
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Clinical implications of loss of interruption variants for diagnosis, genetic counselling, and clinical trials in Huntington's disease.Journal of Huntington's disease · 2026Review
- Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.medRxiv : the preprint server for health sciences · 2026Article
- Article
- ALS and Huntington Disease: Unraveling the Connections between TDP-43 and Huntingtin.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Review
- Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.Brain : a journal of neurology · 2026Article
- Astrocyte heterogeneity and gliosis in Huntington's disease: Histopathological insights into striatal and white matter pathology.Histology and histopathology · 2026Review
- Sequence Variants in Small CAG Repeat Expansions of theNeurology · 2026Article
- Presentation Modes, Anticipation, and Penetrance: A Case Series of Huntington's Disease.Cureus · 2025Article
- BA9 Transcriptomics in Huntington's Disease 80-Gene Signature and MIR219A2-Linked Targets.International journal of molecular sciences · 2025Article
- Huntingtin CAG repeat size variations below the Huntington's disease threshold: associations with depression, anxiety and basal ganglia structure.European journal of human genetics : EJHG · 2025Article
- Rare Diseases, Spotlighting Amyotrophic Lateral Sclerosis, Huntington's Disease, and Myasthenia Gravis: Insights from Landscape Analysis of Current Research.Biochemistry · 2025Review
- How Many People Have a Huntington's Disease Expansion: A Population-Based Prevalence Study in Northern Scotland.Neuroepidemiology · 2025Article
- Significant underascertainment in Huntington's disease.Brain communications · 2025Article
- Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions.Human molecular genetics · 2024Article
- Increased frequency of repeat expansion mutations across different populations.Nature medicine · 2024Article
- Altered Protein Palmitoylation as Disease Mechanism in Neurodegenerative Disorders.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Review
- Huntingtin is an RNA binding protein and participates inScience advances · 2024Article
- Increased frequency of repeat expansion mutations across different populations.medRxiv : the preprint server for health sciences · 2024Article
- Dietary fasting and time-restricted eating in Huntington's disease: therapeutic potential and underlying mechanisms.Translational neurodegeneration · 2024Review
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo directly estimate the frequency and penetrance of CAG repeat alleles associated with Huntington disease (HD) in the general population.
methodsCAG repeat length was evaluated in 7,315 individuals from 3 population-based cohorts from British Columbia, the United States, and Scotland. The frequency of ≥36 CAG alleles was assessed out of a total of 14,630 alleles. The general population frequency of reduced penetrance alleles (36-39 CAG) was compared to the prevalence of patients with HD with genetically confirmed 36-39 CAG from a multisource clinical ascertainment in British Columbia, Canada. The penetrance of 36-38 CAG repeat alleles for HD was estimated for individuals ≥65 years of age and compared against previously reported clinical penetrance estimates.
resultsA total of 18 of 7,315 individuals had ≥36 CAG, revealing that approximately 1 in 400 individuals from the general population have an expanded CAG repeat associated with HD (0.246%). Individuals with CAG 36-37 genotypes are the most common (36, 0.096%; 37, 0.082%; 38, 0.027%; 39, 0.000%; ≥40, 0.041%). General population CAG 36-38 penetrance rates are lower than penetrance rates extrapolated from clinical cohorts.
conclusionHD alleles with a CAG repeat length of 36-38 occur at high frequency in the general population. The infrequent diagnosis of HD at this CAG length is likely due to low penetrance. Another important contributing factor may be reduced ascertainment of HD in those of older age.
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