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Salud Pública
Katsuya Nakamura1, Kazuki Kasuga2, Chinami Yuzawa2
1Shinshu University, Matsumoto, Nagano, Japan.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 23, 2025
Resumen
Este estudio identifica una nueva variante del gen PSEN2 en una paciente japonesa con enfermedad de Alzheimer hereditaria (EA). Este hallazgo amplía nuestra comprensión de las causas genéticas raras de la EA y los posibles objetivos terapéuticos.
Área de la Ciencia:
- Neurociencia; Genética; Biología Molecular
Sus antecedentes:
- La enfermedad de Alzheimer hereditaria (EA) está relacionada con variantes en los genes APP, PSEN1 y PSEN2.; Las variantes de PSEN2 son una causa rara de EA familiar.; La comprensión de la heterogeneidad genética en la EA es crucial para el diagnóstico y el tratamiento.
Objetivo del estudio:
- Informar el primer caso de EA hereditaria en Japón asociado con una variante de PSEN2.; Caracterizar el perfil clínico y genético de una paciente con una variante novedosa de PSEN2.; Contribuir a la comprensión de la EA rara relacionada con PSEN2.
Principales métodos:
- Evaluación clínica de una paciente con sospecha de EA hereditaria.; Análisis genético de laboratorio que incluye secuenciación multigénica para genes relacionados con la EA.; Evaluaciones neuropsicológicas y neurorradiológicas (RM, PET de amiloide).
Principales resultados:
- Una mujer japonesa de 51 años presentó demencia de inicio temprano e historial familiar de demencia.; Los hallazgos clínicos y de imagen fueron consistentes con EA.; Se identificaron variantes heterocigotas con cambio de sentido novedosas en PSEN2 (c.356T>G, p.Leu119Arg).; Se inició el tratamiento con Lecanemab a los 50 años.
Conclusiones:
- Este es el primer paciente con EA hereditaria reportado con una variante de PSEN2 en Japón.; El estudio destaca la importancia de las pruebas genéticas para variantes raras de PSEN2 en la EA.; Se justifica una mayor investigación sobre las características clínicas y genéticas de las variantes novedosas de PSEN2.
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