- Disorders of Microtubule Function in Neurons: Imaging Correlates
MRIs from 18 patients with confirmed tubulin mutations and 15 patients with mutations of the genes encoding microtubule-associated proteins were evaluated. The patients with tubulin gene mutations were found to have cortical and subcortical abnormalities such as microcephaly, ventriculomegaly, abnormal gyral and sulcal patterns, small or absent corpus callosum, and a small pons. Fewer subcortical abnormalities were seen in the microtubule-associated protein mutations group.