ArticleJournal of neurology, neurosurgery, and psychiatry2005
Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing.
Article in Journal of neurology, neurosurgery, and psychiatry, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Incidence of adult Huntington's disease in the UK: a UK-based primary care study and a systematic review.BMJ open · 2016Pooled it
- Diagnostic value of genetic testing in chorea: a retrospective monocentric study.Journal of neurology · 2026Article
- Phosphoproteomic profiling reveals post-translational dysregulation in Huntington's disease patient-derived neurons.Cellular & molecular biology letters · 2026Article
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- Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.European journal of human genetics : EJHG · 2024Article
- 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
- Cell Rearrangement and Oxidant/Antioxidant Imbalance in Huntington's Disease.Antioxidants (Basel, Switzerland) · 2023Review
- Cognitive Dysfunction in Repeat Expansion Diseases: A Review.Frontiers in aging neuroscience · 2022Review
- 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
- Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.Orphanet journal of rare diseases · 2021Article
- Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.BMC medical genetics · 2020Article
- Comparison of mid-age-onset and late-onset Huntington's disease in Finnish patients.Journal of neurology · 2017Article
- The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.Molecular neurobiology · 2017Article
- What do we know about Late Onset Huntington's Disease?Journal of Huntington's disease · 2017Review
- Impairment of translation in neurons as a putative causative factor for autism.Biology direct · 2014Article
- CAG-Expansion Haplotype Analysis in a Population with a Low Prevalence of Huntington's Disease.Journal of clinical neurology (Seoul, Korea) · 2014Article
- "Grasping the grey": patient understanding and interpretation of an intermediate allele predictive test result for Huntington disease.Journal of genetic counseling · 2013Article
- The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis.PLoS currents · 2012Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrior to the discovery of the Huntington's disease (HD) mutation, the prevalence, incidence, and new mutation rates for this disease were based on the presence of progressive choreic movements and a positive family history.
objectiveTo evaluate the uptake of the HD genetic analysis in Spain, and to provide additional information on the epidemiology of this disease from the experience of 9 years of direct genetic testing.
methodsFrom 1994 to 2002, CAG repeat length was determined in 317 patients with symptoms compatible with HD. In all cases, demographic, clinical, and family data were carefully reviewed.
resultsHD diagnosis (CAG repeat length >/=36) was confirmed in 166 (52%) symptomatic cases. Of these, 76 (45.8%) reported a positive family history and in 21 cases (12.7%) family history was negative. New mutation events were genetically proven in three families and highly suspected in another, estimating that the minimum new mutation rate for HD in our population is >4%, with a potential mutation rate of 8%. More than 16% of all HD cases had late onset (>59 years) of symptoms, and in three quarters of these the family history was negative. The incidence rate for the autonomous communities of Navarra and the Basque country, based on the number of newly diagnosed cases by genetic testing, was 4.7 per million per year.
conclusionsDirect HD genetic testing shows that the incidence and mutation rates of the disease are 2-3 times higher than previously reported. We also demonstrated the relevance of CAG repeat length assessment in diagnosing patients with late onset of symptoms and negative family history for HD.
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