Ataxia espinocerebelosa tipo 2 (parte A): epidemiología y características clínicas y genéticas
Palabras clave:
Ataxia espinocerebelosa tipo 2, asesoramieto genético, neuropatología, neurofisiología, repetidos CAG, rehabilitaciónResumen
La ataxia espinocerebelosa tipo 2 (SCA2) es una enfermedad genética con un patrón de herencia
autosómico dominante que se caracteriza por atrofia cerebelosa asociada con movimientos
sacádicos lentos, hiporreflexia temprana, temblor postural severo, neuropatía periférica,
desórdenes cognitivos y otras características multisistémicas. La SCA2, una de las ataxias más
comunes a nivel mundial, es causada por la expansión anormal de un triplete repetido CAG
presente en el gen ATXN2. Los pacientes con SCA2 presentan más de 32 y hasta cientos de
repetidos CAG. En esta revisión se ofrece una descripción detallada de las principales carac-
terísticas epidemiológicas, clínicas y genéticas de la SCA2. Asimismo se detalla la experiencia
de la aplicación de programas de diagnóstico predictivo en la población cubana, en donde
la caracterización de las manifestaciones clínicas de la SCA2, en conjunto con el diagnóstico
molecular oportuno, han permitido establecer esquemas de rehabilitación para estos pacientes.
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