A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells

Arnold Starr, Brandon Isaacson, Henry J. Michalewski, Fan Gang Zeng, Ying Yee Kong, Paula Beale, George W. Paulson, Bronya J B Keats, Marci M. Lesperance

Research output: Contribution to journalArticle

49 Scopus citations

Abstract

We have studied 72 members belonging to a large kindred with a hearing disorder inherited in an autosomal dominant pattern. We used audiological, physiological, and psychoacoustic measures to characterize the hearing disorders. The initial phenotypic features of the hearing loss are of an auditory neuropathy (AN) with abnormal auditory nerve and brainstem responses (ABRs) and normal outer hair cell functions [otoacoustic emissions (OAEs) and cochlear microphonics (CMs)]. Psychoacoustic studies revealed profound abnormalities of auditory temporal processes (gap detection, amplitude modulation detection, speech discrimination) and frequency processes (difference limens) beyond that seen in hearing impairment accompanying cochlear sensory disorders. The hearing loss progresses over 10-20 years to also involve outer hair cells, producing a profound sensorineural hearing loss with absent ABRs and OAEs. Affected family members do not have evidence of other cranial or peripheral neuropathies. There was a marked improvement of auditory functions in three affected family members studied after cochlear implantation with return of electrically evoked auditory brainstem responses (EABRs), auditory temporal processes, and speech recognition. These findings are compatible with a distal auditory nerve disorder affecting one or all of the components in the auditory periphery including terminal auditory nerve dendrites, inner hair cells, and the synapses between inner hair cells and auditory nerve. There is relative sparing of auditory ganglion cells and their axons.

Original languageEnglish (US)
Pages (from-to)411-426
Number of pages16
JournalJARO - Journal of the Association for Research in Otolaryngology
Volume5
Issue number4
DOIs
StatePublished - Dec 2004

Keywords

  • Auditory neuropathy
  • Cochlear implant
  • Hereditary deafness
  • Sensorineural

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Sensory Systems

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    Starr, A., Isaacson, B., Michalewski, H. J., Zeng, F. G., Kong, Y. Y., Beale, P., Paulson, G. W., Keats, B. J. B., & Lesperance, M. M. (2004). A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. JARO - Journal of the Association for Research in Otolaryngology, 5(4), 411-426. https://doi.org/10.1007/s10162-004-5014-5