Fabrício G. Gonçalves, Tomás de Andrade L. Freddi, Ajay Taranath, Rahul Lakshmanan, Robert Goetti, Fabricio S. Feltrin, Kshitij Mankad, Sara R. Teixeira, Prasad B. Hanagandi, Filippo Arrigoni

Research output: Contribution to journalReview articlepeer-review

20 Scopus citations


Mutations causing dysfunction of the tubulins and microtubule-associated proteins, otherwise known as tubulinopathies, are a group of recently described entities, that lead to complex brain malformations. An understanding of the fundamental principles of operation of the cytoskeleton and compounds in particular microtubules, actin, and microtubule-associated proteins, can assist in the interpretation of the imaging findings of tubulinopathies. Somewhat consistent morphological imaging patterns have been described in tubulinopathies such as dysmorphic basal ganglia—the hallmark (found in 75% of cases), callosal dysgenesis, cerebellar hypoplasia/dysplasia, and cortical malformations, most notably lissencephaly. Recognizing the common imaging phenotypes present in tubulinopathies can prove invaluable in directing the genetic workup for a patient with brain malformations.

Original languageEnglish (US)
Pages (from-to)395-408
Number of pages14
JournalTopics in Magnetic Resonance Imaging
Issue number6
StatePublished - 2018
Externally publishedYes


  • Cytoskeleton
  • Microtubule-associated proteins
  • Neuronal formation
  • Tubulins

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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