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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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Autores principales: Alata, Milvia, González-Vega, Arturo, Piazza, Valeria, Kleinert-Altamirano, Anke, Cortes, Carmen, Ahumada-Juárez, Juan C., Eguibar, Jose R., López-Juárez, Alejandra, Hernandez, Victor H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8317997/
https://www.ncbi.nlm.nih.gov/pubmed/34335454
http://dx.doi.org/10.3389/fneur.2021.702039
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author Alata, Milvia
González-Vega, Arturo
Piazza, Valeria
Kleinert-Altamirano, Anke
Cortes, Carmen
Ahumada-Juárez, Juan C.
Eguibar, Jose R.
López-Juárez, Alejandra
Hernandez, Victor H.
author_facet Alata, Milvia
González-Vega, Arturo
Piazza, Valeria
Kleinert-Altamirano, Anke
Cortes, Carmen
Ahumada-Juárez, Juan C.
Eguibar, Jose R.
López-Juárez, Alejandra
Hernandez, Victor H.
author_sort Alata, Milvia
collection PubMed
description 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 made by integrating clinical data and radiological signs. Differences in MRIs have been reported in patients that carry the same mutation; however, a quantitative study has not been performed so far. Our study aimed to provide a longitudinal analysis of the changes in the cerebellum (Cb), corpus callosum (CC), ventricular system, and striatum in a patient suffering from H-ABC and in the taiep rat. We correlated the MRI signs of the patient with the results of immunofluorescence, gait analysis, segmentation of cerebellum, CC, and ventricular system, performed in the taiep rat. We found that cerebellar and callosal changes, suggesting a potential hypomyelination, worsened with age, in concomitance with the emergence of ataxic gait. We also observed a progressive lateral ventriculomegaly in both patient and taiep, possibly secondary to the atrophy of the white matter. These white matter changes are progressive and can be involved in the clinical deterioration. Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) gives rise to a spectrum of clinical signs whose pathophysiology still needs to be understood.
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spelling pubmed-83179972021-07-29 Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model Alata, Milvia González-Vega, Arturo Piazza, Valeria Kleinert-Altamirano, Anke Cortes, Carmen Ahumada-Juárez, Juan C. Eguibar, Jose R. López-Juárez, Alejandra Hernandez, Victor H. Front Neurol Neurology 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 made by integrating clinical data and radiological signs. Differences in MRIs have been reported in patients that carry the same mutation; however, a quantitative study has not been performed so far. Our study aimed to provide a longitudinal analysis of the changes in the cerebellum (Cb), corpus callosum (CC), ventricular system, and striatum in a patient suffering from H-ABC and in the taiep rat. We correlated the MRI signs of the patient with the results of immunofluorescence, gait analysis, segmentation of cerebellum, CC, and ventricular system, performed in the taiep rat. We found that cerebellar and callosal changes, suggesting a potential hypomyelination, worsened with age, in concomitance with the emergence of ataxic gait. We also observed a progressive lateral ventriculomegaly in both patient and taiep, possibly secondary to the atrophy of the white matter. These white matter changes are progressive and can be involved in the clinical deterioration. Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) gives rise to a spectrum of clinical signs whose pathophysiology still needs to be understood. Frontiers Media S.A. 2021-07-14 /pmc/articles/PMC8317997/ /pubmed/34335454 http://dx.doi.org/10.3389/fneur.2021.702039 Text en Copyright © 2021 Alata, González-Vega, Piazza, Kleinert-Altamirano, Cortes, Ahumada-Juárez, Eguibar, López-Juárez and Hernandez. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Alata, Milvia
González-Vega, Arturo
Piazza, Valeria
Kleinert-Altamirano, Anke
Cortes, Carmen
Ahumada-Juárez, Juan C.
Eguibar, Jose R.
López-Juárez, Alejandra
Hernandez, Victor H.
Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model
title Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model
title_full Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model
title_fullStr Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model
title_full_unstemmed Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model
title_short Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model
title_sort longitudinal evaluation of cerebellar signs of h-abc tubulinopathy in a patient and in the taiep model
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8317997/
https://www.ncbi.nlm.nih.gov/pubmed/34335454
http://dx.doi.org/10.3389/fneur.2021.702039
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