Diagnóstico de transtornos del movimiento con fenotipos similares a la enfermedad de Huntington.

Msc. Melissa Vásquez-Cerdas, MSc. Fernando Morales-Montero

Resumen



 Introducción y objetivos: La enfermedad de Huntington (HD) es la enfermedad neurodegenerativa hereditaria más frecuente, causada por una expansión inestable de la repetición CAG en el gen HTT. Se caracteriza por trastornos del movimiento, deterioro cognitivo y disturbios psiquiátricos y del comportamiento. Un número creciente de enfermedades pueden imitar la presentación de la HD. Se estima que entre 1 y 7% de los pacientes con síntomas y signos sugestivos de HD, son negativos para la mutación en el gen HTT, y se dice que presentan fenotipos similares a la HD ó fenocopias de HD. El objetivo del estudio es contribuir a la correcta clasificación de pacientes costarricenses con un cuadro clínico sugestivo de HD, pero sin la expansión CAG en el gen HTT. 

Metodología: Un total de 11 pacientes costarricenses, ocho hombres y tres mujeres, se tamizaron para expansiones de repeticiones en los genes JPH3, TBP, ATN1, ATX1, ATX2, ATX3 y CACNA1A. El análisis molecular se llevó a cabo por medio de la reacción en cadena de la polimerasa (PCR) y electroforesis en geles desnaturalizantes de urea-acrilamida con la posterior tinción con nitrato de plata. 

Resultados: Todos los pacientes estudiados con fenotipo similar a la HD resultaron negativos para las expansiones en los genes JPH3, TBP, ATN1, ATX1, ATX2, ATX3 y CACNA1A. 

Conclusiones: La causa de la enfermedad en los pacientes analizados sigue siendo desconocida, y no se pudo establecer un diagnóstico o clasificación clínica definitiva. Esto indica lo complejo del diagnóstico diferencial de fenocopias de HD y evidencia que los trastornos del movimiento con fenotipos similares a la HD son clínica y genéticamente heterogéneos. 


Palabras clave


enfermedad de Huntington, corea, fenocopias, Costa Rica, diagn stico molecular

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Referencias


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