Auditory neuropathies: Understanding their pathogenesis to illuminate intervention strategies

Current Opinion in Neurology

Volumn 25, Issue 1, 2012, Pages 50-56

  Giraudet, Fabrice ^a   Avan, Paul ^a  

^a UNIVERSITÉ CLERMONT AUVERGNE   (France)

Author keywords

auditory evoked potentials; mitochondria; neural hearing loss; otoacoustic emissions; sound overstimulation

Indexed keywords

COCHLEAR NERVE; ELECTROSTIMULATION; HEARING ACUITY; HEARING AID; HUMAN; IMPLANTATION; NERVE CELL LESION; NONHUMAN; PATHOGENESIS; PRESYNAPTIC NERVE; REVIEW; VESTIBULOCOCHLEAR NERVE DISEASE;

ANIMALS; COCHLEAR IMPLANTATION; COCHLEAR IMPLANTS; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; HEARING AIDS; HEARING LOSS, CENTRAL; HUMANS; OTOACOUSTIC EMISSIONS, SPONTANEOUS;

EID: 84855677898     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0b013e32834f0351     Document Type: Review

References (44)

1. Starr A, Picton TW, Sininger Y, et al. Auditory neuropathy. Brain 1996; 119:741-753. (Pubitemid 26237173)
2. Starr A, McPherson D, Patterson J, et al. Absence of both auditory evoked potentials and auditory percepts dependent on timing cues. Brain 1991; 114:1157-1180.
3. Glowatzki E, Grant L, Fuchs P. Hair cell afferent synapses. Curr Opin Neurobiol 2008; 18:389-395.
4. Starr A, Zeng F, Michalewski H, Moser T. Perspectives on auditory neuropathy: disorders of inner hair cell, auditory nerve, and their synapse. In: Basbaum AI, Kaneko A, Shepherd M, Westheimer G, editors. The senses: a comprehensive reference. New York: Academic Press; 2008. pp. 397-412.
5. Delmaghani S, del Castillo FJ, Michel V, et al. Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet 2006; 38:770-778. (Pubitemid 43980597)
6. Ebermann I, Walger M, Scholl HPN, et al. Truncating mutation of the DFNB59 gene causes cochlear hearing impairment. Hum Mutat 2007; 28:571-577. (Pubitemid 46744287)
7. Santarelli R. Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy. Genome Med 2010; 2:91.
8. Rance G. Auditory neuropathy/dys-synchrony and its perceptual consequences. Trends Amplif 2005; 9:1-43. (Pubitemid 40789966)
9. Zeng FG, Liu S. Speech perception in individuals with auditory neuropathy. J Speech Lang Hear Res 2006; 49:367-380. (Pubitemid 350056574)
10. Zeng F, Kong Y, Michalewski HJ. Starr A: perceptual consequences of disrupted auditory nerve activity. J Neurophysiol 2005; 93:3050-3063. (Pubitemid 40720888)
11. Berlin CI, Hood LJ, Morlet T, et al. Multisite diagnosis and management of 260 patients with auditory neuropathy/dys-synchrony (auditory neuropathy spectrum disorder). Int J Audiol 2010; 49:30-43.
12. Javel E. Basic response properties of auditory nerve fibers. In: Altschuler RA, Hoffman RP, editors. Neurobiology of hearing: the cochlea. New York: Raven Press; 1986. pp. 213-245.
13. Rance G, Corben LA, Du Bourg E, et al. Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia. Neuroscience 2010; 171:552-555.
14. Cone-Wesson B, Rance G, Sininger YS. Amplification and rehabilitation strategies for patients with auditory neuropathy. In: Sininger YA, Starr A, editors. Auditory neuropathy. San Diego: Singular Publishing; 2001. pp. 233-250.
15. Trautwein PG, Sininger YS, Nelson R. Cochlear implantation of auditory neuropathy. J Am Acad Audiol 2000; 11:309-315. (Pubitemid 30609994)
16. Runge-Samuelson CL, Drake S, Wackym PA. Quantitative analysis of electrically evoked auditory brainstem responses in implanted children with auditory neuropathy/dyssynchrony. Otol Neurotol 2008; 29:174-178. (Pubitemid 351170469)
17. Fulmer SL, Runge CL, Jensen JW, Friedland DR. Rate of neural recovery in implanted children with auditory neuropathy spectrum disorder. Otolaryngol Head Neck Surg 2011; 144:274-279.
18. Rance G, Barker EJ. Speech and language outcomes in children with auditory neuropathy/dys-synchrony managed with either cochlear implants or hearing aids. Int J Audiol 2009; 48:313-320.
19. Teagle HF, Roush PA, Woodard JS, et al. Cochlear implantation in children with auditory neuropathy spectrum disorder. Ear Hear 2010; 31:325-335.
20. Berlin CI, Hood LJ, Rose K. On renaming auditory neuropathy as auditory dyssynchrony. Audiol Today 2001; 13:15-17.
21. Buran BN, Strenzke N, Neef A, et al. Onset coding is degraded in auditory nerve fibers from mutant mice lacking synaptic ribbons. J Neurosci 2010; 30:7587-7597.
22. Sharma A, Cardon G, Henion K, Roland P. Cortical maturation and behavioral outcomes in children with auditory neuropathy spectrum disorder. Int J Audiol 2011; 50:98-106.
23. Sininger Y, Starr A, Petit C, et al. Guidelines for the Identification and Management of Infants and Young Children with Auditory Neuropathy: guidelines development conference at Newborn Hearing Screening meeting. In: Hayes D, editor. Colarado: Bill Daniels center for children's hearing; Como, Italy. 2008. pp. 3-8.
24. Rapin I, Gravel J. Auditory neuropathy: a biologically inappropriate label unless acoustic nerve involvement is documented. J Am Acad Audiol 2006; 17:147-150. (Pubitemid 351324933)
25. Cacace AT, Pinheiro JM. The mitochondrial connection in auditory neuropathy. Audiol Neurootol 2011; 16:398-413.
26. Roux I, Safieddine S, Nouvian R, et al. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 2006; 127:277-289. (Pubitemid 44572372)
27. Johnson CP, Chapman ER. Otoferlin is a calcium sensor that directly regulates SNARE-mediated membrane fusion. J Cell Biol 2010; 191:187-197.
28. Seal RF, Akil O, Yi E, et al. Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3. Neuron 2008; 57:263-275.
29. Ruel J, Emery S, Nouvian R, et al. Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet 2008; 83:278-292.
30. Santarelli R, Del Castillo I, Rodríguez-Ballesteros M, et al. Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene. J Assoc Res Otolaryngol 2009; 10:545-556.
31. Cacace AT, Burkard RF. Auditory neuropathy: bridging the gap between basic science and current clinical concerns. In: Cacace AT, Mc-Farland DJ, editors. Controversies in central auditory processing disorder. San Diego: Plural; 2009. pp. 305-343.
32. Shidara Y, Hollenbeck PJ. Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia. J Neurosci 2010; 30:11369-11378.
33. Schmucker S, Puccio H. Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. Hum Mol Genet 2010; 19:103-110.
34. Rance G, Fava R, Baldock H, et al. Speech perception ability in individuals with Friedreich ataxia. Brain 2008; 131:2002-2012.
35. Cartoni R, Arnaud E, Médard JJ, et al. Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. Brain 2010; 133:1460-1469.
36. Beal MF. Energetics and the pathogenesis of neurodegenerative disease. Trends Neurosci 2000; 23:298-304.
37. Chan DC. Mitochondrial dynamics in disease. N Engl J Med 2007; 356:1707-1709. (Pubitemid 46658702)
38. Yamada K, Andrews C, Chan WM, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet 2003; 35:318-321. (Pubitemid 37486914)
39. Yang X, Yamada K, Katz B, et al. KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Mol Vis 2010; 16:2062-2070.
40. Hirokawa N, Niwa S, Tanaka Y. Molecular motors in neurons: transport mechanisms and roles in brain function, development, and disease. Neuron 2010; 68:610-638.
41. McMahon CM, Patuzzi RB, Gibson WP, Sanli H. Frequency-specific electrocochleography indicates that presynaptic and postsynaptic mechanisms of auditory neuropathy exist. Ear Hear 2008; 29:314-325. (Pubitemid 351652229)
42. Santarelli R, Starr A, Michalewski HJ, Arslan E. Neural and receptor cochlear potentials obtained by transtympanic electrocochleography in auditory neuropathy. Clin Neurophysiol 2008; 119:1028-1041.
43. Michalewski HJ, Starr A, Zeng FG, Dimitrijevic A. N100 cortical potentials accompanying disrupted auditory nerve activity in auditory neuropathy (AN): effects of signal intensity and continuous noise. Clin Neurophysiol 2009; 120:1352-1363.
44. Dimitrijevic A, Starr A, Bhatt S, et al. Auditory cortical N100 in pre and postsynaptic auditory neuropathy to frequency or intensity changes of continuous tones. Clin Neurophysiol 2011; 122:594-604.