Tubulins are a component of microtubules, which are critical to the processes of mitosis, axon navigation, and neuron migration, all key factors in brain development. Mutations in tubulin genes can alter the normal function and structure of microtubules, leading to complex disorders of brain development and brain malformations. Disorders of microtubules formation affect multiple aspects of brain development, resulting in multiple malformations that can be recognized on cranial MRI. A significant characteristic is the wide spectrum of severity, from severe forms often present at birth to milder conditions, sometimes seen in asymptomatic parents of affected individuals. The purpose of this educational poster is to present the main postnatal and prenatal MRI patterns that can help to suspect a tubulinopathy and guide subsequent genetic testing for confirmation. Read More

Meeting name: IPR 2026 Congress , 2026

Authors: Vázquez Elida, Delgado Ignacio, Sanchez-montañez Angel, Escudero Jose, Gómez David, Riera Luis

Keywords: Fetal Brain MRI, Genetics, Central Nervous System