JOURNAL ARTICLE

Auditory impairment in H-ABC tubulinopathy

Alejandra Lopez-Juarez, Arturo Gonzalez-Vega, Anke Kleinert-Altamirano, Valeria Piazza, Angeles Garduno-Robles, Milvia Iris Alata-Tejedo, Carlos Villaseñor-Mora, Jose Ramon Eguibar, Carmen Cortes, Luis Carlos Padierna, Victor Hugo Hernandez
Journal of Comparative Neurology 2020 July 17
32681585
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a neurodegenerative disease due to mutations in TUBB4A. Patients suffer from extrapyramidal movements, spasticity, ataxia, and cognitive deficits. Magnetic resonance imaging features are hypomyelination and atrophy of the striatum and cerebellum. A correlation between the mutations and their cellular, tissue and organic effects is largely missing. The effects of these mutations on sensory functions have not been described so far. We have previously reported a rat carring a TUBB4A (A302T) mutation and sharing most of the clinical and radiological signs with H-ABC patients. Here, for the first time, we did a comparative study of the hearing function in an H-ABC patient and in this mutant model. By analyzing hearing function we found that there are no significant differences in the auditory brainstem response thresholds between mutant rats and WT controls. Nevertheless, auditory brainstem responses show longer latencies in central waves (II-IV), that in some cases disappear when compared to WT. The patient also shows abnormal AEPs showing only waves I and II. Distortion product of otoacustic emissions and immunohistochemistry in the rat show that the peripheral hearing function and morphology of the Organ of Corti are normal. We conclude that the tubulin mutation severely impairs the central hearing pathway most probably by progressive central white matter degeneration. Hearing function might be affected in a significant fraction of patients with H-ABC, therefore screening for auditory function should be done on patients with tubulinopathies to evaluate hearing support therapies. This article is protected by copyright. All rights reserved.

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