Abstract
BackgroundDespite 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.MethodsDescriptive 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).Results50 (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.ConclusionsOur 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.
Highlights
Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant
The main objective of this study was to calculate the incidence of HD in Aragon population (Spain), who have been referred to the Clinical Genetics Section of the Hospital Universitario Miguel Servet (HUMS), reference centre in Aragon for the genetic study of HD, during the period 2007–2019, according to sex, clinical symptomatology and age at referral
Subjects/patients It was a descriptive retrospective study in which the study group comprised a total of 179 individuals from Aragon, who have been referred during the period January 2007–December 2019 to the Clinical Genetics Section of the HUMS, Zaragoza, Spain, for diagnostic or predictive testing for HD
Summary
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. There is an inverse relationship between the number of CAG repeats and the age of onset of symptoms [3, 4]. The number of CAG repeats is related to the age of death [5] and the rate of disease progression [6]. The repeated CAG trinucleotide in the general population is highly polymorphic, with sizes varying
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