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 TUBB4A mutations. Molecular analysis of TUBB4A was performed on genomic DNA extracted from peripheral blood. Results The series included 12 patients (5 females and 7 males). Five patients carried the common mutation c.745G > A (...
BackgroundLeukodystrophies are a large group of inherited diseases of CNS myelin. There are few trea...
Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain mye...
Recently, mutations in the TUBB4A gene have been found to underlie hypomyelination with atrophy of t...
Background Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) was first descri...
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that ...
We present a series of unrelated patients with isolated hypomyelination, with or without mild cerebe...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating l...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
CLINICAL CHARACTERISTICS TUBB4A -related leukodystrophy comprises a phenotypic spectrum in which the...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with ext...
The article presents the results of long-term dynamics of the clinical and radiological picture of a...
We thank Dr Carvalho and colleagues for their insightful letter (Carvalho et al., 2014), which compl...
BackgroundLeukodystrophies are a large group of inherited diseases of CNS myelin. There are few trea...
Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain mye...
Recently, mutations in the TUBB4A gene have been found to underlie hypomyelination with atrophy of t...
Background Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) was first descri...
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that ...
We present a series of unrelated patients with isolated hypomyelination, with or without mild cerebe...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating l...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
CLINICAL CHARACTERISTICS TUBB4A -related leukodystrophy comprises a phenotypic spectrum in which the...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoe...
Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with ext...
The article presents the results of long-term dynamics of the clinical and radiological picture of a...
We thank Dr Carvalho and colleagues for their insightful letter (Carvalho et al., 2014), which compl...
BackgroundLeukodystrophies are a large group of inherited diseases of CNS myelin. There are few trea...
Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain mye...
Recently, mutations in the TUBB4A gene have been found to underlie hypomyelination with atrophy of t...