ArticleBMJ open2013
Juvenile Huntington's disease: a population-based study using the General Practice Research Database.
Article in BMJ open, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 4 syntheses or guidelines pooled it, 29 citations in OpenAlex.
- Huntington's disease in MENAT: systematic review and meta-analysis of prevalence, clinical features, and genetics.Journal of neurology · 2025Pooled it
- Variation in the reported prevalence of Huntington's disease: a systematic review and guide to interpretation.Journal of neurology · 2025Pooled it
- Prevalence and Incidence of Huntington's Disease: An Updated Systematic Review and Meta-Analysis.Movement disorders : official journal of the Movement Disorder Society · 2022Pooled it
- Incidence of adult Huntington's disease in the UK: a UK-based primary care study and a systematic review.BMJ open · 2016Pooled it
- Review
- Systematic mapping of rare genetic disease studies using UK primary care electronic health records.European journal of human genetics : EJHG · 2026Review
- Cortical and Striatal Functional Connectivity in Juvenile-Onset Huntington's Disease.Brain sciences · 2025Article
- Clinical Review of Juvenile Huntington's Disease.Journal of Huntington's disease · 2024Review
- Article
- Longitudinal Clinical and Biological Characteristics in Juvenile-Onset Huntington's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Review
- Exploring the Potential Routine Use of Electronic Healthcare Record Data to Strengthen Early Signal Assessment in UK Medicines Regulation: Proof-of-Concept Study.Drug safety · 2018Article
- Juvenile Huntington's Disease: Diagnostic and Treatment Considerations for the Psychiatrist.Current psychiatry reports · 2017Review
- 22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.European journal of human genetics : EJHG · 2016Article
- Induced Pluripotent Stem Cells in Huntington's Disease Research: Progress and Opportunity.Journal of Huntington's disease · 2016Review
- Data Resource Profile: Clinical Practice Research Datalink (CPRD).International journal of epidemiology · 2015Article
- Developing stem cell therapies for juvenile and adult-onset Huntington's disease.Regenerative medicine · 2015Review
- Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records.Journal of neurology, neurosurgery, and psychiatry · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundThe juvenile form of Huntington's disease (HD) is a rare disorder. There are no population-based estimates of either its incidence or prevalence in any population in the world. The present study was undertaken to estimate the frequency of juvenile HD in the UK and to examine the range of pharmacological treatments used in its management.
methodThe records of individuals under the age of 21 who had recorded diagnoses of HD were retrieved from the General Practice Research Database from 1990 through 2010. From these data estimates of incidence and prevalence were made as well as the specific treatments used in the treatment of its physical and psychological manifestations.
results12 incident and 21 prevalent patients with juvenile HD were identified. The 21 prevalent cases included the 12 incident cases. The minimum population-based estimate of incidence is 0.70 (95% CI 0.36 to 1.22) per million patient-years. The minimum estimate of prevalence is 6.77/million (95% CI 5.60 to 8.12) per million patient-years. Patients were most frequently prescribed antidepressants, hypnotics, antipsychotics and treatments for motor abnormalities.
conclusionsIn the UK, juvenile HD is an extremely rare and complex disorder. The prescribing data demonstrate that the clinical management of juvenile HD is undertaken with no formal evidence base for the efficacy or safety of the treatments used. Research into the safety and efficacy of appropriate therapies is urgently required to offset the haphazard nature of prescribing. Multinational collaboration will be necessary to enrol sufficient numbers. Exploratory studies, though, should begin now.
Identifiers
What OpenQuestion holds
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.