Observational studyMovement disorders : official journal of the Movement Disorder Society2021
Age of Onset of Huntington's Disease in Carriers of Reduced Penetrance Alleles.
Observational study in Movement disorders : official journal of the Movement Disorder Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review.Journal of Huntington's disease · 2026Review
- Two Decades of Huntington's Disease in Varna, Bulgaria: A Retrospective Single-Centre Study of Clinical Trends and Challenges.Neurology international · 2025Article
- Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington's disease.Scientific reports · 2025Article
- Total functioning capacity scale in Huntington's disease: natural course over time.Journal of neurology · 2025Article
- Progression of visual cognition and neuropsychiatric symptoms in Huntington's disease: a 1-year follow-up study across preclinical and clinical phases.Frontiers in psychology · 2025Article
- Pearls & Oy-sters: Huntington Disease Presenting as Primary Progressive Aphasia: A Case of Semantics.Neurology · 2023Article
- Brain-Derived Neurotrophic Factor Dysregulation as an Essential Pathological Feature in Huntington's Disease: Mechanisms and Potential Therapeutics.Biomedicines · 2023Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundAge of manifest Huntington's disease (HD) onset correlates with number of CAG repeats in the huntingtin gene. Little is known about onset with 36 to 39 repeats, the "reduced penetrance" (RP) range.
objectivesWe provide allele-specific estimates of HD penetrance (diagnostic confidence level of 4) for RP allele carriers.
methodsWe analyzed 431 pre-manifest RP allele carriers from Enroll-HD, the largest prospective observational HD study. Cumulative penetrance (CP) was estimated from Kaplan-Meier curves.
resultsNo one with 36 repeats (n = 25) phenoconverted. CP for 38 repeats (n = 120) was 32% (95% confidence interval [CI] 0%-55%) and 51% (CI, 10%-73%) by ages 70 and 75, respectively, and 68% (CI, 46%-81%) and 81% (CI, 58%-92%) by ages 70 and 75 for 39 repeats (n = 253). CP was not estimable at those ages for 37 repeats (n = 33).
conclusionsDifferences by RP-range repeat length did not reach significance with a 3-year median follow-up duration among censored individuals. © 2021 International Parkinson and Movement Disorder Society.
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