RESUMO
Introducción: La enfermedad de Huntington (EH) es un desorden neurodegenerativo autosómico dominante caracterizado por disfunción progresiva motora, cognitiva y psiquiátrica1. No se conoce la prevalencia de EH en Centro América (2-11). En Panamá no se han reportado estudios sobre esta Enfermedad. El objetivo es estimar la prevalencia de EH en población panameña. Metodología: Se realizó un estudio descriptivo de casos con EH entre 2007 y 2021 en un hospital de tercer nivel. Se incluyeron individuos panameños, mayores de 15 años, un caso por familia, con cuadro clínico sugestivo, con o sin antecedentes familiares, resonancia magnética cerebral y prueba genética HTT positiva. Estos casos fueron incluidos en el Registro Nacional de Enfermedad de Huntington. Resultados: Presentamos 11 casos índice, 6 femeninos. Se estima una prevalencia de 0.25 x 100000 habitantes, edad promedio 40 años (rango 23-63), media 43±12.4, la edad de inicio 29 años (rango 14-43), media 27±11.13, presentación juvenil 3 casos. Se detectaron 91 sintomáticos de 185 familiares, transmisión predominante paterna, todos heterocigóticos. Alelo normal entre 13-23 repeticiones de CAG, mientras que alelo mutante oscila entre 41 y 59 repeticiones de CAG. Conclusión: Este es el primer reporte de la EH en población panameña, la prevalencia estimada es baja de 0.25 x 100000 habitantes. Estudios futuros deberán realizarse para conocer la prevalencia en Panamá y Centro América además de determinar el origen ancestral de esta población. (provisto por Infomedic International)
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. (provided by Infomedic International)
RESUMO
BACKGROUND: The phenotypic heterogeneity of transthyretin amyloidosis (ATTR) familial polyneuropathy may be linked to the type of mutation and to the environmental factors. A gender difference in relation to the severity of the disease has been suspected. More than 100 different pathogenic variants of hereditary transthyretin (TTR) mutations have been reported. OBJECTIVE: To describe 32 patients with confirmed TTR Ser50Arg mutation from the same geographical origin. METHODS: Seven families with up to four affected generations underwent genetic testing and prospective clinical and laboratory evaluations. RESULTS: The mutation was confirmed in seven patients from different families with clinical symptoms compatible with ATTR amyloidosis, and in 25 (62%) of the 40 direct relatives tested. Of the 32 patients with positive test results, 18 (56%) were men. Only 5 (16%) subjects were disease-free at the time of the genetic test (mean age: 20, range: 18-30-year-old). The rest developed symptoms at a young age, between ages 36 and 41. Symptomatic, histologically positive patients were older than carriers and symptomatic patients without a confirmatory biopsy. The later generation displayed symptoms at a younger age. Initial manifestations in the 27 symptomatic patients were neuropathic in 19 (70%), gastrointestinal in 6 (22%) and autonomic in 1 (4%). Significant differences were demonstrated among genders, where men had a considerably worse outcome. CONCLUSION: ATTR Ser50Arg mutation was associated with an early onset, an unbalanced male to female ratio, a more aggressive course in males and possibly displayed anticipation.