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Ciencia Básica y Patogénesis

Joong-Seok Kim1, Hyuk-Je Lee1, Bora Yoon1

  • 1The Catholic University of Korea, Seoul, NA, Korea, Republic of (South).

Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
PubMed
Resumen
Este resumen es generado por máquina.

Este estudio informa un caso raro de deterioro cognitivo en un hombre de 75 años con una doble mutación novedosa en los genes PSEN2 y SLC20A2. Este hallazgo avanza la comprensión de las causas genéticas de la demencia y la calcificación cerebral.

Palabras clave:
NeurosicenciaGenéticaRadiología

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Área de la Ciencia:

  • Neurociencia
  • Genética
  • Radiología

Sus antecedentes:

  • La enfermedad de Alzheimer autosómica dominante (ADAD) y la calcificación cerebral familiar primaria (PFBC) son trastornos genéticos raros que causan deterioro cognitivo.
  • Un hombre de 75 años presentó deterioro de la memoria, mostrando calcificación de los ganglios basales, hiperintensidades de la sustancia blanca y deposición de amiloide en la neuroimagen.

Objetivo del estudio:

  • Investigar los fundamentos clínicos, radiológicos y genéticos del deterioro cognitivo en un paciente con hallazgos inusuales en la neuroimagen.
  • Identificar variantes genéticas que puedan contribuir a la presentación neurológica observada.

Principales métodos:

  • La neuroimagen incluyó PET/CT con 18F-Florbetabeno para la evaluación de amiloide y RM para cambios en la sustancia blanca y microhemorragias.
  • Se utilizaron escalas estandarizadas para el análisis de imágenes, con valores de SUVR de PET convertidos a la escala Centiloid.
  • Se realizó secuenciación de próxima generación de 1097 genes relacionados con la demencia para identificar variantes genéticas.

Principales resultados:

  • Se observó una deposición significativa de placas de amiloide (Centiloid 98.3) y depósitos densos de minerales, sugestivos de PFBC o hiperparatiroidismo.
  • La RM reveló atrofia del lóbulo temporal medial, hiperintensidades severas de la sustancia blanca y microhemorragias cerebrales.

Conclusiones:

  • Este caso representa la primera instancia documentada de una mutación combinada de PSEN2 y SLC20A2.
  • Las variantes genéticas identificadas pueden estar asociadas con el deterioro cognitivo y la calcificación cerebral del paciente.