ArticleOrphanet journal of rare diseases2021
Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 15 citations in OpenAlex.
- 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
- Epidemiology of Progressive Supranuclear Palsy in Navarre, Spain: A Population-Based Study.European journal of neurology · 2026Observational
- How Many People Have a Huntington's Disease Expansion: A Population-Based Prevalence Study in Northern Scotland.Neuroepidemiology · 2025Article
- Epidemiologic and clinical features of multisystem atrophy: a population-based study in Navarre, Spain.Journal of neurology · 2024Observational
- [Huntington disease in the Valencian Region].Revista de neurologia · 2023Article
- A Systematic Literature Review of Health Information Systems for Healthcare.Healthcare (Basel, Switzerland) · 2023Review
- Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.Human molecular genetics · 2023Article
- Costs and Utilization of New-to-Market Neurologic Medications.Neurology · 2023Article
- Neuroprotective potency of mangiferin against 3-nitropropionic acid induced Huntington's disease-like symptoms in rats: possible antioxidant and anti-inflammatory mechanisms.Frontiers in pharmacology · 2023Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. Most research studies of rare diseases, including HD, use health information systems (HIS) as data sources. This study investigates the validity and accuracy of national and international diagnostic codes for HD in multiple HIS and analyses the epidemiologic trends of HD in the Autonomous Community of Navarre (Spain).
methodsHD cases were ascertained by the Rare Diseases Registry and the reference Medical Genetics Centre of Navarre. Positive predictive values (PPV) and sensitivity with 95% confidence intervals (95% CI) were estimated. Overall and 9-year periods (1991-2017) HD prevalence, incidence and mortality rates were calculated, and trends were assessed by Joinpoint regression.
resultsOverall PPV and sensitivity of combined HIS were 71.8% (95% CI: 59.7, 81.6) and 82.2% (95% CI: 70.1, 90.4), respectively. Primary care data was a more valuable resource for HD ascertainment than hospital discharge records, with 66% versus 50% sensitivity, respectively. It also had the highest number of "unique to source" cases. Thirty-five per cent of HD patients were identified by a single database and only 4% by all explored sources. Point prevalence was 4.94 (95% CI: 3.23, 6.65) per 100,000 in December 2017, and showed an annual 6.1% increase from 1991 to 1999. Incidence and mortality trends remained stable since 1995-96, with mean annual rates per 100,000 of 0.36 (95% CI: 0.27, 0.47) and 0.23 (95% CI: 0.16, 0.32), respectively. Late-onset HD patients (23.1%), mean age at onset (49.6 years), age at death (66.6 years) and duration of disease (16.7 years) were slightly higher than previously reported.
conclusionHD did not experience true temporary variations in prevalence, incidence or mortality over 23 years of post-molecular testing in our population. Ascertainment bias may largely explain the worldwide heterogeneity in results of HD epidemiological estimates. Population-based rare diseases registries are valuable instruments for epidemiological studies on low prevalence genetic diseases, like HD, as long as they include validated data from multiple HIS and genetic/family information.
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