Longitudinal Evaluation of cerebellar signs of H-ABC tubulinopathy in a patient and in the taiep model

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dc.audiencegeneralPublices_MX
dc.contributor.authorAlata Tejedo, Milvia Iris
dc.contributor.authorGonzalez Vega, Arturo
dc.contributor.authorCortes Sánchez, Ma. del Carmen
dc.contributor.authorPiazza, Valeria
dc.contributor.authorKleinert Altamirano, Anke
dc.contributor.authorAhumada Juárez, Juan Carlos
dc.contributor.authorEguibar Cuenca, José Ramon
dc.contributor.authorLópez Juárez, Alejandra
dc.contributor.authorHernández González, Víctor Hugo
dc.creatorAlata Tejedo, Milvia Iris; 0000-0003-0598-4136
dc.creatorGonzalez Vega, Arturo; 0000-0002-5211-3205
dc.creatorCortes Sánchez, Ma. del Carmen, 0000-0002-9163-2665
dc.date.accessioned2023-03-17T17:31:06Z
dc.date.available2023-03-17T17:31:06Z
dc.date.issued2021-07-14
dc.description.abstract"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, possibly secondary to the atrophy of the white matter. 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".es_MX
dc.identifierhttps://doi.org/10.3389/fneur.2021.702039
dc.identifier.urihttps://hdl.handle.net/20.500.12371/17840
dc.language.isoenges_MX
dc.rights.accesopenAccesses_MX
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0es_MX
dc.subject.otherH-ABCes_MX
dc.subject.otherTubulinopathyes_MX
dc.subject.otherQuantitative MRIes_MX
dc.subject.otherSegmentation (image processing)es_MX
dc.subject.otherCerebellumes_MX
dc.subject.otherMyelines_MX
dc.subject.otherDemyelinationes_MX
dc.subject.otherAtaxiaes_MX
dc.titleLongitudinal Evaluation of cerebellar signs of H-ABC tubulinopathy in a patient and in the taiep modeles_MX
dc.typeArtículoes_MX
dc.type.conacytarticlees_MX
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