TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients
D Tonduti, C Aiello, F Renaldo, I Dorboz… - European Journal of …, 2016 - Elsevier
Background Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
was first described in 2002. After the recent identification of TUBB4A mutation as the genetic
basis of the disease, the clinical and neuroimaging phenotype related to TUBB4A mutations
expanded, ranging from primary dystonia type 4 with normal MRI to severe H-ABC cases.
Patients and methods The study included patients referred to us for an unclassified
hypomyelinating leukodystrophy. We selected patients with deleterious heterozygous …
was first described in 2002. After the recent identification of TUBB4A mutation as the genetic
basis of the disease, the clinical and neuroimaging phenotype related to TUBB4A mutations
expanded, ranging from primary dystonia type 4 with normal MRI to severe H-ABC cases.
Patients and methods The study included patients referred to us for an unclassified
hypomyelinating leukodystrophy. We selected patients with deleterious heterozygous …