10.3389/fnins.2020.00555.s001
Angeles Garduno-Robles
Angeles
Garduno-Robles
Milvia Alata
Milvia
Alata
Valeria Piazza
Valeria
Piazza
Carmen Cortes
Carmen
Cortes
Jose R. Eguibar
Jose R.
Eguibar
Sergio Pantano
Sergio
Pantano
Victor H. Hernandez
Victor H.
Hernandez
Table_1_MRI Features in a Rat Model of H-ABC Tubulinopathy.docx
Frontiers
2020
hypo/demyelination
tubulinopathies
H-ABC
taiep
MRI
optical microscopy
leukodystrophy
2020-06-03 07:15:23
Dataset
https://frontiersin.figshare.com/articles/dataset/Table_1_MRI_Features_in_a_Rat_Model_of_H-ABC_Tubulinopathy_docx/12415793
<p>Tubulinopathies are a group of recently described diseases characterized by mutations in the tubulin genes. Mutations in TUBB4A produce diseases such as dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), which are clinically diagnosed by magnetic resonance imaging (MRI). We propose the taiep rat as the first animal model for tubulinopathies. The spontaneous mutant suffers from a syndrome related to a central leukodystrophy and characterized by tremor, ataxia, immobility, epilepsy, and paralysis. The pathological signs presented by these rats and the morphological changes we found by our longitudinal MRI study are similar to those of patients with mutations in TUBB4A. The diffuse atrophy we found in brain, cerebellum and spinal cord is related to the changes detectable in many human tubulinopathies and in particular in H-ABC patients, where myelin degeneration at the level of putamen and cerebellum is a clinical trademark of the disease. We performed Tubb4a exon analysis to corroborate the genetic defect and formulated hypotheses about the effect of amino acid 302 change on protein physiology. Optical microscopy of taiep rat cerebella and spinal cord confirmed the optical density loss in white matter associated with myelin loss, despite the persistence of neural fibers.</p>