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Variante del comportamiento Demencia frontotemporal con C9orf72 Expansión de repetición intermedia: un informe de

Sufen Huang^1,2, Yuzhang Bei², Qingxiang Zhang³

¹Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

Alzheimer disease and associated disorders

|February 10, 2026

Resumen

Un raro caso de demencia frontotemporal (FTD) vinculado a un cromosoma 9 marco de lectura abierto 72 (C9orf72) expansión de repetición del gen de 49 unidades proporciona evidencia de alelos de longitud intermedia.

Área de la Ciencia:

Genética La genética.
La neurociencia es la neurociencia.
Neurología Neurología.

Sus antecedentes:

Las expansiones de repetición de hexanucleótidos en el gen C9orf72 son la principal causa genética de demencia frontotemporal (FTD) y esclerosis lateral amiotrófica (ELA).
El número exacto de repeticiones que definen una expansión patógena, particularmente en el rango intermedio (30 a >60 repeticiones), sigue siendo objeto de debate.
Esta incertidumbre afecta el diagnóstico genético y el asesoramiento para pacientes y familias.

Objetivo del estudio:

Para reportar un caso raro de demencia frontotemporal variante del comportamiento (bvFTD) asociado con una expansión de repetición C9orf72 de longitud intermedia.
Contribuir con evidencia clínica a la discusión en curso sobre la patogenicidad de los alelos C9orf72 dentro del rango de repetición intermedio.
Para resaltar la presentación clínica y los hallazgos de neuroimagen en un paciente con este perfil genético específico.

Principales métodos:

Informe de caso de un paciente diagnosticado con bvFTD.
Análisis genético para identificar y cuantificar la expansión de repetición C9orf72.
Evaluación neuropsicológica para evaluar déficits cognitivos y conductuales.
Estudios de neuroimagen (IRM/PET) para evaluar la estructura y la función del cerebro.

Principales resultados:

El paciente presentó una expansión de repetición C9orf72 de 49 unidades, dentro del rango de longitud intermedia.
Las manifestaciones clínicas incluyeron el deterioro neuropsiquiátrico progresivo, el embotamiento emocional y el deterioro de la memoria.
La neuroimagen reveló atrofia temporal bilateral e hipocampal y reducción del metabolismo de la glucosa en regiones específicas del cerebro.

Conclusiones:

Este caso proporciona datos clínicos críticos que apoyan la potencial patogenicidad de las expansiones repetidas de C9orf72 de longitud intermedia.
Los hallazgos subrayan la importancia de considerar alelos intermedios en el diagnóstico genético de FTD y ELA.
Se necesitan más investigaciones para establecer definitivamente el umbral patógeno para las expansiones repetidas de C9orf72.

Palabras clave:

variante del comportamiento demencia demencia.Informe de caso, informe de caso.Demencia frontotemporal y demencia frontotemporal.el producto intermedio.repite la expansión de la expansión.

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