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Blefaroespasmo: una nueva asociación fenotípica con una variante de VAC14

Karri Madhavi¹, Rukmini Mridula Kandadai², Sruthi Kola²

¹Department of Neurology, Citi Neuro Centre, Miyapur, Hyderabad 500059 Telangana, India.

Clinical parkinsonism & related disorders

|January 6, 2026

Resumen

El blefaroespasmo, una contracción involuntaria de los músculos oculares durante el cierre voluntario, se relaciona con los trastornos NBIA. Este estudio añade mutaciones en el gen VAC14 al espectro de afecciones asociadas con este síntoma neurológico.

Área de la Ciencia:

Neurología
Genética
Oftalmología

Sus antecedentes:

El blefaroespasmo se caracteriza por contracciones clónicas breves e involuntarias de los músculos orbiculares de los ojos durante el cierre voluntario de los ojos.
Los trastornos de neurodegeneración con acumulación de hierro cerebral (NBIA), como la neurodegeneración asociada a la pantotenato quinasa (PKAN), la neurodegeneración asociada a PLA2G6 (PLAN) y la enfermedad de Kufor Rakeb, se asocian con el blefaroespasmo.

Objetivo del estudio:

Investigar la asociación entre las mutaciones del gen VAC14 y el blefaroespasmo.
Ampliar el espectro fenotípico conocido de los trastornos NBIA.

Principales métodos:

Presentación de un caso clínico y análisis genético.
Revisión de la literatura sobre trastornos NBIA y blefaroespasmo.

Principales resultados:

Se observó blefaroespasmo en un paciente con una mutación confirmada en el gen VAC14.
Este hallazgo sugiere un vínculo potencial entre las mutaciones de VAC14 y el desarrollo de blefaroespasmo.

Conclusiones:

El gen VAC14 debe considerarse en la evaluación genética de pacientes que presentan blefaroespasmo, particularmente aquellos con características sugestivas de trastornos NBIA.
Este informe amplía el espectro fenotípico asociado con NBIA, destacando el blefaroespasmo como una posible manifestación clínica relacionada con mutaciones en VAC14.

Palabras clave:

Blefaroespasmo Trastornos NBIA VAC14

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