TY - JOUR
T1 - Tubulinopathies
AU - Gonçalves, Fabrício G.
AU - Freddi, Tomás de Andrade L.
AU - Taranath, Ajay
AU - Lakshmanan, Rahul
AU - Goetti, Robert
AU - Feltrin, Fabricio S.
AU - Mankad, Kshitij
AU - Teixeira, Sara R.
AU - Hanagandi, Prasad B.
AU - Arrigoni, Filippo
N1 - Publisher Copyright:
Copyright 2018 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - Cytoskeleton
KW - Microtubule-associated proteins
KW - Neuronal formation
KW - Tubulins
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U2 - 10.1097/RMR.0000000000000188
DO - 10.1097/RMR.0000000000000188
M3 - Review article
C2 - 30516692
AN - SCOPUS:85062043181
SN - 0899-3459
VL - 27
SP - 395
EP - 408
JO - Topics in Magnetic Resonance Imaging
JF - Topics in Magnetic Resonance Imaging
IS - 6
ER -