Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model

Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a central neurodegenerative disease due to mutations in the tubulin beta-4A (TUBB4A) gene, characterized by motor development delay, abnormal movements, ataxia, spasticity, dysarthria, and cognitive deficits. Diagnosis is ma...

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Bibliographic Details
Main Authors: Milvia Alata, Arturo González-Vega, Valeria Piazza, Anke Kleinert-Altamirano, Carmen Cortes, Juan C. Ahumada-Juárez, Jose R. Eguibar, Alejandra López-Juárez, Victor H. Hernandez
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Neurology
Subjects:
H-ABC
tubulinopathy
quantitative MRI
segmentation (image processing)
cerebellum
myelin
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.702039/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.702039/full

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