ArticleJournal of human genetics2008
Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation.
Article in Journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 papers, 1 of them a synthesis that pooled it.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- Variation in the reported prevalence of Huntington's disease: a systematic review and guide to interpretation.Journal of neurology · 2025Pooled it
- Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.NAR genomics and bioinformatics · 2025Article
- Article
- Juvenile-onset Huntington's disease - Spectrum and evolution of presenting movement disorders.Annals of clinical and translational neurology · 2024Article
- A deep population reference panel of tandem repeat variation.Nature communications · 2023Article
- From Pathogenesis to Therapeutics: A Review of 150 Years of Huntington's Disease Research.International journal of molecular sciences · 2023Review
- A deep population reference panel of tandem repeat variation.bioRxiv : the preprint server for biology · 2023Article
- Increased 10-Year Prevalence of Huntington's Disease in South Korea: An Analysis of Medical Expenditure Through the National Healthcare System.Journal of clinical neurology (Seoul, Korea) · 2023Article
- Juvenile-Onset Huntington's Disease in Peru: A Case Series of 32 Patients.Movement disorders clinical practice · 2023Article
- Altered Cholesterol Homeostasis in Huntington's Disease.Frontiers in aging neuroscience · 2022Review
- The known burden of Huntington disease in the North of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era.Journal of neurology · 2021Article
- The Renin-Angiotensin System in Huntington's Disease: Villain or Hero?Protein and peptide letters · 2020Review
- Huntington's disease in the United States: Variation by demographic and socioeconomic factors.Movement disorders : official journal of the Movement Disorder Society · 2019Article
- Brain Microbiota in Huntington's Disease Patients.Frontiers in microbiology · 2019Article
- Evaluating the current state of the art of Huntington disease research: a scientometric analysis.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2018Review
- The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America.European journal of human genetics : EJHG · 2017Article
- Article
- Review
- Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2015Article
- HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia.European journal of human genetics : EJHG · 2011Article
Corrections and comments
- Erratum issued
- Erratum issued
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aggregation of patients with Huntington's disease (HD) around Lake Maracaibo, Zulia State, Venezuela, is widely recognized, but the epidemiology of HD in the whole country is relatively unstudied. We have examined 279 individuals from 60 unrelated affected families residing in various areas of Venezuela for the presence of CAG repeats and other features associated with HD. The number of expanded repeats in 139 carriers varied from 35 to 112. Based on our examination of 71 symptomatic individuals, we developed a log-transformed regression equation, y= -0.0238x + 2.6616, to enable the prediction of age of onset in asymptomatic carriers. Intragenic haplotypes were constructed with two VNTRs (variable number of tandem repeats) and two SNPs (single nucleotide polymorphisms) in the promoter region as well as CCG repeat and Delta2642 polymorphisms to assess kinship between families. In 43 of 45 tested families, the haplotype on the mutated chromosome was 1;G;C;7;(A). The other haplotypes observed, 1;G;C;7;(B) and 4;G;C;7;(A), were of Peruvian and French origins, respectively. The geographic source of the first affected ancestor was assessed in 54 families from 15 different states. Residents of the states of Miranda, Lara and Táchira, excluding those of Zulia, had a mutated allele prevalence five- to ninefold higher than that of other areas. A low (approx. 1/200,000) prevalence, a wide-spread distribution with aggregation in some states and a likely remote European Caucasoid origin are defining epidemiologic features of HD in Venezuela.
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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.