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Una mutación intrónica rara c.2654+1G>A en la encefalopatía microglial CSF1R: un informe de caso

HongYan Wu1, JingYu Shi2, XiaoShan Wang1

  • 1Department of Neurology, Guizhou University of Traditional Chinese Medicine, Guiyang, China.

Frontiers in genetics
|September 2, 2025
PubMed
Resumen

Este estudio detalla un raro caso de encefalopatía microglial CSF1R con una mutación específica. Las imágenes ponderadas por difusión negativa (DWI) y los biomarcadores del LCR similares al Alzheimer resaltan la necesidad de realizar pruebas genéticas tempranas en casos de deterioro cognitivo.

Palabras clave:
CSF1R (receptor del factor estimulante de las colonias 1)La demenciael genimágenes por resonancia magnéticalas microglías

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