Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre

Abstract

Background Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type of population, diagnostic criteria, disease-modifying factors, etc.) make these data highly variable. Therefore, the genetic diagnosis of these patients is important, since it unequivocally allows the detection of new cases. Methods Descriptive retrospective study with 179 individuals. Incidence of HD was calculated from the ratio of number of symptomatic cases newly diagnosed per 100,000 inhabitants per year during the period 2007–2019 in Aragon (Spain). Results 50 (27.9%) incident cases of HD (CAG repeat length ≥ 36) were identified from a total of 179 persons studied. The remaining 129/179 (72.1%) were HD negative (CAG repeat length < 36). 29 (58.0%) females and 21 (42.0%) males were confirmed as HD cases. The overall incidence was 0.648 per 100,000 patient-years. 11/50 positive HD cases (22.0%) were identified by performing a predictive test, without clinical symptoms. The minimum number of CAG repeats found was 9 and the most common CAG length among HD negative individuals was 16. Conclusions Our incidence lied within the range reported for other Caucasian populations. Implementation of new techniques has allowed to determine the exact number of CAG repeats, which is especially important in patients with triplet expansions in an HD intermediate and/or incomplete penetrance allele, both in diagnostic, predictive and prenatal tests.

Prevalence and Incidence of Huntington's Disease: An Updated Systematic Review and Meta‐Analysis

“…A total of 18 studies examined the incidence of HD, with geographic representation across 12 countries (Canada, 12 Cyprus, 10 England, 9 , 22 , 23 Iceland, 24 Israel, 25 Italy, 26 , 27 , 28 Germany, 29 Greece, 30 South Korea, 31 Spain, 32 , 33 Sweden, 34 and the United States 35 , 36 ) (see Table S1 for study details).…”

Monogenetic rare diseases in biomedical databases and text mining

“…The second Epidemiology/Demographics section of the Huntington’s disease template included citations to the prevalence which is defined as 3 to 7 per 100,000 people of European ancestry by NCBI or as 1 patient to 20 000 – 100 000 persons by Orphanet. In addition, in 2020 meta-analysis defined incidence rate of HD of 0.648 per 100 000 patient-years (Sienes Bailo et al, 2020). References about clinical presentation of the Huntington’s disease selected for the template indicate mental problems for symptoms and complications and molecular diagnostics and brain physiological test for diagnostics (Table 4).…”

“…The second Epidemiology/Demographics section of the Huntington's disease template included citations to the prevalence which is defined as 3 to 7 per 100,000 people of European ancestry by NCBI or as 1 patient to 20 000 -100 000 persons by Orphanet. In addition, in 2020 meta-analysis defined incidence rate of HD of 0.648 per 100 000 patient-years (Sienes Bailo et al, 2020).…”