ArticleJournal of medical genetics1995
The epidemiology of Huntington's disease in Northern Ireland.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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.
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.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- A systematic review of the incidence and prevalence of long-term neurological conditions in the UK.Neuroepidemiology · 2011Pooled it
- From Pathogenesis to Therapeutics: A Review of 150 Years of Huntington's Disease Research.International journal of molecular sciences · 2023Review
- Quantification of Huntington's Disease Related Markers in the R6/2 Mouse Model.Frontiers in molecular neuroscience · 2020Article
- Huntington's disease: the coming of age.Journal of genetics · 2018Review
- What do we know about Late Onset Huntington's Disease?Journal of Huntington's disease · 2017Review
- Treatment of Huntington's disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2014Review
- Juvenile Huntington's disease: a population-based study using the General Practice Research Database.BMJ open · 2013Article
- The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis.PLoS currents · 2012Article
- Familial ossification of the stylohyoid ligament in a three generation family--a new clinical entity displaying autosomal dominant inheritance.The British journal of radiology · 2012Article
- Tetrabenazine: the first approved drug for the treatment of chorea in US patients with Huntington disease.Neuropsychiatric disease and treatment · 2010Article
- Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.Genetics in medicine : official journal of the American College of Medical Genetics · 2010Article
- Review
- CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.American journal of human genetics · 2009Article
- The epidemiology of Leber hereditary optic neuropathy in the North East of England.American journal of human genetics · 2003Article
- Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset.Journal of medical genetics · 1996Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A survey of Huntington's disease (HD) in Northern Ireland, with a population of 1.5 million, has shown a 1991 prevalence rate of 6.4/100,000. Virtually complete ascertainment was achieved, enabling prevalence rate estimates and age statistics to be calculated over the last 20 years. The prevalence rate is similar to the high prevalence rates of HD found in most European populations, suggesting the presence of either one extremely ancient or a number of separate mutational origins, resulting in a uniform European HD prevalence. The ages at diagnosis and duration of the disease are similar to previous studies, suggesting a consistent effect of the HD gene in all families. Estimates of heterozygote frequency (HF), direct and indirect mutation rate, fertility, and genetic fitness (W) were made. Reliable HF estimates gave values between 10 and 11 x 10(-5). The direct and indirect mutation rates were 0.32 x 10(-6) and 1.05 x 10(-6) respectively. W was increased in the affected HD population but decreased in the at risk population. Fertility in HD is not reduced, but it appears that at risk patients have actively limited their family size. Factors responsible include, among others, the fear of developing HD and genetic counselling of families. This is the first published epidemiological survey to include ascertainment data in a population both before and after isolation of the HD gene, and with the diagnosis in virtually all patients confirmed by DNA mutation testing.
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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.