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2008, Número 1

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Rev Neurol Neurocir Psiquiat 2008; 41 (1)


Más allá del TEL y de la dislexia: otros trastornos lingüísticos de base genética

Benítez BA

Idioma: Español
Referencias bibliográficas: 149
Paginas: 21-36
Archivo PDF: 93.20 Kb.


RESUMEN

La identificación y la caracterización estructural y funcional de los genes que aparecen mutados en trastornos cognitivos de carácter hereditario que revisten (en principio) un carácter exclusivamente lingüístico está contribuyendo a una caracterización más precisa en términos moleculares del programa de desarrollo innato responsable de la ontogenia del “órgano del lenguaje”. Tradicionalmente este tipo de análisis se han centrado en el denominado trastorno específico del lenguaje (TEL) y en la dislexia, si bien de forma progresiva se han ido describiendo otros trastornos de esta índole. La consideración de las características fenotípicas de los mismos, así como la determinación de las alteraciones estructurales y funcionales que se producen en ellos a nivel del sistema nervioso central, ayuda a evaluar críticamente determinadas cuestiones de interés relacionadas con los trastornos del lenguaje y de la cognición, en particular: 1) la posibilidad de lograr una separación precisa en términos empíricos entre las diversas clases de disfunciones cognitivas y, en particular, entre la cognición general y el lenguaje; 2) la idoneidad que, frente a la caracterización sindrómica, presenta el recurso a los endofenotipos en este tipo de análisis; o 3) el significado real de la comorbilidad que se advierte habitualmente entre esta clase de trastornos. Por otro lado, la consideración de las características estructurales y funcionales de los genes cuya mutación parece ser la causa de este tipo de trastornos sugiere que difícilmente pueden considerarse relacionados exclusivamente con el lenguaje, puesto que sus productos ejercen diversas funciones en distintas zonas del sistema nervioso (y aun del resto del organismo), y en diferentes momentos del desarrollo.


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