"While the majority of tubulinopathies result from de novo mutations, others such as TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB5 and TUBG1 are autosomal dominant in inheritance 2."
"Basal ganglia dysmorphism or abnormal orientation is a pathognomonic association that occurs in 75% of cases 2. The usual appearance is dysgenesis or agenesis of the anterior limb of the internal capsule (absent ALIC sign) 4, resulting in a round, fused appearance of the caudate and putamen. The head of the caudate protrudes further into the lateral ventricle, giving the frontal horn a hooked configuration 2. There is also a high association with ventriculomegaly, corpus callosal agenesis (up to 40%), and cerebellar hypoplasia of varying degrees in these patients as well 3."
"Tubulins play an important role in neuronal migration in the developing fetal brain. The roles of alpha and beta tubulins in brain development have been recognised for some years while the role of other tubulins, such as g-tubulin, have only been more recently described 1."
"While the majority of tubulinopathies result from de novo mutations, others such as TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB5 and TUBG1 are autosomal dominant in inheritance 2."
"Basal ganglia dysmorphism or abnormal orientation is a pathognomonic association that occurs in 75% of cases 2. The usual appearance is dysgenesis or agenesis of the anterior limb of the internal capsule (absent ALIC sign) 4, resulting in a round, fused appearance of the caudate and putamen. The head of the caudate protrudes further into the lateral ventricle, giving the frontal horn a hooked configuration 2. There is also a high association with ventriculomegaly, corpus callosal agenesis (up to 40%), and cerebellar hypoplasia of varying degrees in these patients as well 3."