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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?

SUBMITTER: Sienes Bailo P 

PROVIDER: S-EPMC7684714 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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

Sienes Bailo Paula P   Lahoz Raquel R   Sánchez Marín Juan Pelegrín JP   Izquierdo Álvarez Silvia S  

BMC medical genetics 20201123 1


<h4>Background</h4>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.<h4>Methods</h4>Descriptive retrospective study  ...[more]

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