Auditory impairment in H-ABC tubulinopathy.
Amino Acid Substitution
Animals
Auditory Perception
Child, Preschool
Cochlear Nucleus
/ pathology
Demyelinating Diseases
/ genetics
Developmental Disabilities
/ genetics
Disease Models, Animal
Dystonic Disorders
/ genetics
Ear, Inner
/ physiopathology
Evoked Potentials, Auditory
Female
Hearing Loss, Sensorineural
/ genetics
Humans
Inferior Colliculi
/ pathology
Male
Mutation, Missense
Myelin Sheath
/ pathology
Point Mutation
Rats
Rats, Mutant Strains
Rats, Sprague-Dawley
Tubulin
/ deficiency
H-ABC
RRID:AB_10563601
RRID:AB_10766837
RRID:AB_221544
RRID:AB_2572213
RRID:AB_2629482
RRID:MGI:5651135
TUBB4A
hearing
myelin
tubulinopathy
Journal
The Journal of comparative neurology
ISSN: 1096-9861
Titre abrégé: J Comp Neurol
Pays: United States
ID NLM: 0406041
Informations de publication
Date de publication:
01 04 2021
01 04 2021
Historique:
received:
22
04
2020
revised:
12
06
2020
accepted:
10
07
2020
pubmed:
19
7
2020
medline:
19
1
2022
entrez:
19
7
2020
Statut:
ppublish
Résumé
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 carrying 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 (ABR) thresholds between mutant rats and WT controls. Nevertheless, ABRs show longer latencies in central waves (II-IV) that in some cases disappear when compared to WT. The patient also shows abnormal AEPs presenting only Waves I and II. Distortion product of otoacoustic 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.
Substances chimiques
TUBB4A protein, human
0
TUBB4A protein, mouse
0
Tubulin
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
957-968Informations de copyright
© 2020 Wiley Periodicals LLC.
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