ArticleAmerican journal of human genetics2001
Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Huntington's disease in MENAT: systematic review and meta-analysis of prevalence, clinical features, and genetics.Journal of neurology · 2025Pooled it
- Distribution of theClinical medicine & research · 2020Pooled it
- Significant underascertainment in Huntington's disease.Brain communications · 2025Article
- The First Patient with Sporadic Huntington's Disease Due To aJournal of translational internal medicine · 2022Article
- Geographic differences in the incidence of Huntington's disease in Sardinia, Italy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Hotspots of Human Mutation.Trends in genetics : TIG · 2021Review
- ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.Cerebellum (London, England) · 2019Article
- Antagonistic pleiotropy in mice carrying a CAG repeat expansion in the range causing Huntington's disease.Scientific reports · 2019Article
- Trinucleotide Repeat Expansion Diseases, RNAi, and Cancer.Trends in cancer · 2018Review
- Motor phenotype is not associated with vascular dysfunction in symptomatic Huntington's disease transgenic R6/2 (160 CAG) mice.Scientific reports · 2017Article
- What do we know about Late Onset Huntington's Disease?Journal of Huntington's disease · 2017Review
- Huntington disease reduced penetrance alleles occur at high frequency in the general population.Neurology · 2016Article
- Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases.European journal of human genetics : EJHG · 2016Article
- CAG-Expansion Haplotype Analysis in a Population with a Low Prevalence of Huntington's Disease.Journal of clinical neurology (Seoul, Korea) · 2014Article
- Clinical and genetic features of Huntington disease in Sri Lanka.BMC neurology · 2013Article
- Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes.European journal of human genetics : EJHG · 2013Article
- Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.Neurology · 2013Article
- "Grasping the grey": patient understanding and interpretation of an intermediate allele predictive test result for Huntington disease.Journal of genetic counseling · 2013Article
- Predicting Disease Onset from Mutation Status Using Proband and Relative Data with Applications to Huntington's Disease.Journal of probability and statistics · 2012Article
- HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia.European journal of human genetics : EJHG · 2011Article
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5 authors.
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Abstract
We describe a new approach for analysis of the epidemiology of progressive genetic disorders that quantifies the rate of progression of the disease in the population by measuring the mutational flow. The framework is applied to Huntington disease (HD), a dominant neurological disorder caused by the expansion of a CAG-trinucleotide sequence to >35 repeats. The disease is 100% penetrant in individuals with > or = 42 repeats. Measurement of the flow from disease alleles provides a minimum estimate of the flow in the whole population and implies that the new mutation rate for HD in each generation is > or = 10% of currently known cases (95% confidence limits 6%-14%). Analysis of the pattern of flow demonstrates systematic underascertainment for repeat lengths <44. Ascertainment falls to <50% for individuals with 40 repeats and to <5% for individuals with 36-38 repeats. Clinicians should not assume that HD is rare outside known pedigrees or that most cases have onset at age <50 years.
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