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2018, Número 2

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Investigación en Discapacidad 2018; 7 (2)


Disfunción temprana de nervios craneales correlaciona con alteraciones de la morfología facial en la ataxia espinocerebelosa tipo 2.
Los nervios craneales y la morfología facial en SCA2

Medrano-Montero J, Velázquez-Pérez L, Rodríguez-Labrada R, Canales-Ochoa N, Peña-Acosta A, Almaguer-Mederos LE, Estupiñan-Rodríguez A, Auburger G

Idioma: Ingles.
Referencias bibliográficas: 90
Paginas: 53-66
Archivo PDF: 819.69 Kb.


RESUMEN

Se realizó un estudio transversal con el objetivo de cuantificar las alteraciones electrofisiológicas de los nervios facial y trigémino y determinar su correlación con las anomalías de la mor-fología facial y el número de repeticiones de CAG en la Ataxia Espinocerebelosa Tipo 2 (SCA2). Se evaluaron 90 pacientes SCA2 y 41 portadores preclínicos de mutación junto con 100 sujetos sanos como controles, pareados por sexo, edad y tipo facial a través de estudios de conducción nerviosa motora periférica del nervio facial, reflejo de parpadeo (BR) y reflejo T mentoniano (reflejo mandibular). Para el análisis de las características de la morfología facial se determinó el tipo facial mediante el índice facial morfológico estandarizado y mediciones a partir de tres planos distintos sobre fotografías. Los pacientes mostraron una prolongación significativa de la latencia y la duración y una reducción de la amplitud del potencial motor del facial. El reflejo mandibular reveló prolongación de la latencia y disminución de la amplitud así como prolongación del componente R2 bilateral del BR. Los portadores preclínicos mostraron duración prolongada del potencial del nervio facial, del reflejo mandibular y de la latencia del componente R2 bilateral del BR. Se obtuvieron alteraciones morfológicas faciales sobre los músculos periorales, periorbitarios y maseterinos en ambos grupos, y algunas de ellas correlacionaron con las hallazgos electrofisiológicos y el número de repeticiones de CAG.
Estas características electrofisiológicas y morfológicas amplían el fenotipo prodrómico de SCA2 y ofrecen nuevas pistas sobre el papel de la mutación ATXN2 en la atrofia muscular, el equilibrio energético neuronal y el metabolismo lipídic


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