1. Enfermedad de Huntington en población panameña, 2007-2021.
- Author
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Lee-Chen, Luis, Chen de Lee, Donna, Amaya Naranjo, María, Gracia, Fernando, Berenguer Sánchez, Mauricio, and Austin Ward, Enrique
- Subjects
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HUNTINGTON disease , *MAGNETIC resonance , *GENETIC testing , *NEURODEGENERATION , *AGE of onset - Abstract
Introduction: Huntington´s disease (HD) is an autosomal dominant neurodegenerative disorder characterized by progressive motor, cognitive and psychiatric dysfunction. HD prevalence in Panama or in Central America is unknown. This will be the first report in Panamá about HD. Metodology: The objective is to estimate HD prevalence in Panamanian population. A retrospective, descriptive study of patients with HD between 2007 and 2021 was conducted. Panamanians > 15 years, 1 case per family, with typical clinical symptoms, with or without family history, brain magnetic resonance and positive genetic test and then included in the National registry of Huntington Disease. Results: Eleven index cases were presented, 6 women. The mean age was 40 years (range 23-63), median 43±12.4, sex ratio was 5:6, the onset age was 29 years (range 14-43), median 27±11.13.3 cases in young patients. 91 symptomatic cases out of 185 relatives, with a dominant paternal transmission, all heterozygous. Normal allele between 13-23 CAG repetitions, while the mutant allele ranges between 41 and 59 CAG repetitions. Conclusions: This is the first HD report in Panamanian population, with a low estimated prevalence of 0.25 x 100,000. The aim of this study is to promote HD research in Panama and Central America and determine the ancestral origin of this population. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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