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Updated: Jan 14, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Enfermedad de Creutzfeldt-Jakob genética ligada a la mutación E200K: un estudio de cohorte grande

Brian S Appleby1,2,3,4, Matteo Manca5, Megan S Piazza6,7

  • 1Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, USA. bsa35@case.edu.

Acta neuropathologica
|January 13, 2026
PubMed
Resumen

Los casos de E200K de la enfermedad de Creutzfeldt-Jakob genética (gCJD) muestran fenotipos variados influenciados por el polimorfismo del codón 129. Este estudio de cohorte más grande revela subtipos histopatológicos y de PrPSc distintos, que ofrecen nuevas perspectivas sobre la E200K de la gCJD.

Palabras clave:
Codón 129Enfermedad de Creutzfeldt-JakobE200KPerfil de lesiónProteína priónicaRT-QuIC

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