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Una nueva mutación en el gen del receptor del factor estimulante de colonias 1 (CSF1R) que causa el trastorno

Anup N Sonti¹, Elizabeth Joe^1,2, Jillian V Berry³

¹Department of Neurology, USC Keck School of Medicine, Los Angeles, CA, USA.

|February 4, 2026

Resumen

El trastorno relacionado con CSF1R es una afección neurodegenerativa rara causada por mutaciones en el gen del receptor del factor estimulante de colonias 1 (CSF1R). Este estudio detalla tres pacientes con mutaciones en CSF1R, incluida una nueva mutación S840C, y hallazgos de autopsia, proporcionando nuevas perspectivas sobre la patología de la enfermedad.

Área de la Ciencia:

Neurociencia
Genética
Enfermedades Raras

Sus antecedentes:

El trastorno relacionado con CSF1R (CSF1R-RD) es una enfermedad neurodegenerativa rara.
Las mutaciones en el gen del receptor del factor estimulante de colonias 1 (CSF1R) causan CSF1R-RD.
Se conocen más de 200 mutaciones y diversos fenotipos.

Objetivo del estudio:

Presentar una serie de casos de tres pacientes con CSF1R-RD.
Describir dos mutaciones de CSF1R, I827N y una nueva S840C.
Proporcionar nuevas perspectivas sobre la patología de CSF1R-RD a través de hallazgos clínicos, diagnósticos y de autopsia detallados.

Principales métodos:

Presentación de una serie de casos.
Análisis genético de mutaciones de CSF1R.
Evaluación clínica y radiográfica.
Hallazgos de autopsia en un caso.

Principales resultados:

Se identificaron tres pacientes con CSF1R-RD.
Se encontraron dos mutaciones: I827N y la nueva S840C.
Los hallazgos de la autopsia proporcionaron información patológica detallada para la mutación I827N.

Conclusiones:

El estudio amplía la comprensión de las mutaciones de CSF1R y sus fenotipos asociados.
Se identifica la nueva mutación S840C en CSF1R-RD.
Los hallazgos de autopsia mejoran el conocimiento de la neuropatología de CSF1R-RD.

Palabras clave:

ALSP CSF1R CSF1R-RD I827N S840C leucoencefalopatía

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