Tubulinopathies

Top Magn Reson Imaging. 2018 Dec;27(6):395-408. doi: 10.1097/RMR.0000000000000188.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Brain / abnormalities*
  • Brain / diagnostic imaging*
  • Child
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Mutation / genetics*
  • Phenotype
  • Tubulin / genetics*

Substances

  • Tubulin