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Manifestaciones Clínicas

Angélica Zuno-Reyes1, Karina Pérez-Rubio1, Ricardo Jáuregui Torres1

  • 1Instituto de Neurociencias, CUCBA, Universidad de Guadalajara, Guadalajara, JA, Mexico.

Alzheimer's & dementia : the journal of the Alzheimer's Association
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Resumen

Los portadores preclínicos de la enfermedad de Alzheimer autosómica dominante APPV717I mostraron memoria intacta pero déficits en la flexibilidad cognitiva. Los años de escolaridad influyeron positivamente en el rendimiento de la flexibilidad cognitiva en estos individuos.

Palabras clave:
flexibilidad cognitivamemoriaAlzheimermutación APP<sub>V717I</sub>preclínicoaños de escolaridad

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Área de la Ciencia:

  • Neurociencia; Genética; Psicología

Sus antecedentes:

  • La enfermedad de Alzheimer autosómica dominante (ADAD) está relacionada con mutaciones en el gen de la proteína precursora de amiloide (APP).; La APPV717I es una mutación común asociada con la ADAD, y los portadores pueden experimentar cambios cognitivos antes de que se manifiesten los síntomas clínicos.; La detección temprana de cambios cognitivos en portadores preclínicos es crucial para comprender la progresión de la enfermedad y desarrollar intervenciones.

Objetivo del estudio:

  • Evaluar la memoria y las funciones ejecutivas (FE) en portadores preclínicos (PC) de la mutación APPV717I.; Determinar la influencia de la edad y los años de escolaridad (YoS) en el rendimiento cognitivo en PC.; Establecer un precedente para el estudio de las FE en la mutación APPV717I en la etapa preclínica.

Principales métodos:

  • Se evaluaron quince PC y veinticuatro miembros familiares no portadores (CN) de portadores de la mutación APPV717I.; Se evaluó la flexibilidad cognitiva y la memoria utilizando la estandarización mexicana del protocolo neuropsicológico CERAD (CERAD-MX).; Los análisis estadísticos incluyeron pruebas t para comparaciones de grupos y análisis de correlación/regresión para los efectos de la edad y YoS.

Principales resultados:

  • Los PC demostraron un rendimiento significativamente menor en el MWCST (que evalúa la flexibilidad cognitiva) en comparación con los CN.; No se observaron diferencias significativas en el rendimiento de las tareas de memoria entre los grupos de PC y CN.; Los años de escolaridad (YoS) mostraron una fuerte correlación positiva con la flexibilidad cognitiva y predijeron el rendimiento, mientras que la edad no lo hizo.

Conclusiones:

  • Los individuos con la mutación APPV717I exhiben déficits preclínicos en la flexibilidad cognitiva, no en la memoria, lo que los distingue de los portadores de otras mutaciones de ADAD.; Los años de escolaridad impactan significativamente la flexibilidad cognitiva, lo que sugiere un posible papel compensatorio.; Este estudio es pionero en la investigación de las funciones ejecutivas en la etapa preclínica de las mutaciones APPV717I, ofreciendo información valiosa sobre la progresión temprana de la ADAD.