The mitochondrial connection in auditory neuropathy

Audiology and Neurotology

Volumn 16, Issue 6, 2011, Pages 398-413

  Cacace, Anthony T ^a   Pinheiro, Joaquim M B ^b  

^a WAYNE STATE UNIVERSITY   (United States)

^b ALBANY MEDICAL COLLEGE   (United States)

Author keywords

Auditory brainstem responses; Auditory neuropathy; Autosomal dominant optic atrophy; Charcot Marie Tooth disease; Cochlear microphonics; Friedreich's ataxia; Hyperbilirubinemia; Leber's hereditary optic neuropathy; Mitochondria; Otoacoustic emissions; Respiratory chain

Indexed keywords

DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; HEARING LOSS; HUMAN; METABOLISM; MITOCHONDRION; NERVE DEGENERATION; REVIEW; VESTIBULOCOCHLEAR NERVE DISEASE;

HEARING LOSS, CENTRAL; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; NERVE DEGENERATION;

EID: 78751642516     PISSN: 14203030     EISSN: 14219700     Source Type: Journal    
DOI: 10.1159/000323276     Document Type: Review

References (187)

1. Abdala C, Sininger YS, Starr A: Distortion product otoacoustic emission suppression in subjects with auditory neuropathy. Ear Hear 2000; 21: 542-53
2. Ahlfors CE, Bennett SH, Shoemaker CT, Ellis WG, Davis SL, Wennberg RP, et al: Changes in the auditory brainstem response associated with intravenous infusion of unconjugated bilirubin into infant rhesus monkeys. Pediatr Res 1986; 20: 511-515 (Pubitemid 16096748)
3. Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, et al: OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol 2005; 58: 958-963 (Pubitemid 41746888)
4. Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, et al: OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes. Brain 2008; 131: 338-351 (Pubitemid 351197609)
5. American Academy of Pediatrics, Provisional Committee for Quality Improvement and Subcommittee on Hyperbilirubinemia: Practice parameter: management of hyperbilirubinemia in the healthy term newborn. Pediatrics 1994; 94: 558-565
6. Attias J, Raveh E: Transient deafness in young candidates for cochlear implants. Audiol Neurootol 2007; 12: 325-333 (Pubitemid 47236973)
7. Bahmad FJ, Merchant SN, Nadol JBJ, Tranebjrg L: Otopathology in Mohr-Tranebjrg syndrome. Laryngoscope 2007; 117: 1202-1208
8. Baker MJ, Frazier AE, Gulbis JM, Ryan MT: Mitochondrial protein-import machinery: correlating structure with function. Trends Cell Biol 2007; 17: 456-464 (Pubitemid 47499044)
9. Bancroft JD, Kreamer B, Gourley GR: Gilbert syndrome accelerates development of neonatal jaundice. J Pediatr 1998; 32: 656-660 (Pubitemid 28194587)
10. Baranano DE, Rao M, Ferris CD, Synder SH: Biliverdin reductase: a major physiologic cytoprotectant. Proc Natl Acad Sci USA 2002; 99: 16093-16098 (Pubitemid 35462754)
11. Batty HK, Millhouse OE: Ultrastructure of the Gunn rat substantia nigra. 2. Mitochondrial changes. Acta Neuropathol 1976; 34: 7-19.
12. Beal MF: Energetics and the pathogenesis of neurodegenerative disease. Trends Neurosci 2000; 23: 298-304
13. Berg AL, Spitzer JB, Towers HM, Bartosiewicz C, Diamond BE: Newborn hearing screening in the NICU: profile of failed auditory brainstem response/passed otoacoustic emission. Pediatrics 2005; 116: 933-938 (Pubitemid 44542821)
14. Berlin CI, Hood LJ, Morlet T, Wilensky D, St. John P, Montgomery E, et al: Absent or elevated middle ear muscle reflexes in the presence of normal otoacoustic emissions: a universal finding in 136 cases of auditory neuropathy/ dys-synchrony. J Am Acad Audiol 2005; 16: 546-553 (Pubitemid 43375779)
15. Bette S, Zimmerman U, Wissinger B, Knipper M: OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear. Histochem Cell Biol 2007; 128: 421-430 (Pubitemid 350163682)
16. Bilger RC: The audiometric profile of noiseinduced hearing loss; in Henderson D, Hamernik RP, Dosanjh DS, Mill JH (eds): Effects of Noise on Hearing. New York, Raven Press, 1976, pp 457-465
17. Blaney B, Hewlett N: Dysarthria and Friedreichs ataxia: what can intelligibility assessment tell us? Int J Lang Commun Disord 2007; 42: 19-37
18. Bonofoco E, Krainc D, Ankarcrona M, Nicotera P, Lipton SA: Apoptosis and necrosis: two distinct events induced, respectively, by mild and intense insults with N-methyl- D -aspartate or nitric oxide/superoxide in cortical cell cultures. Proc Natl Acad Sci USA 1995; 92: 7162-7166
19. Bowen WR, Waters WF: The possible mechanism and site of bilirubin inhibition of electron transfer. Am J Dis Child 1958; 96: 507
20. Bowling AC, Beal MF: Bioenergetic and oxidative stress in neurodegenerative disease. Life Sci 1995; 56: 1151-1171
21. Brodersen R: Bilirubin solubility and interaction with albumin and phospholipids. J Biol Chem 1979; 254: 2364-2369 (Pubitemid 9160050)
22. Brookes JT, Kanis AB, Tan LY, Tranebjrg L, Vore A, Smith RJH: Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome. Int J Pediatr Otorhinolaryngol 2008; 72: 121-126 (Pubitemid 350198646)
23. Brownlees J, Ackerley S, Grierson AJ, Jacobsen NJO, Shea K, Anderton BH, et al: Charcot- Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum Mol Genet 2002; 11: 2837-2844 (Pubitemid 35331816)
24. Budd SL, Nicholls DG: Mitochondria, calcium regulation, and acute glutamate toxicity in cultured cerebral granule cells. J Neurochem 1996;67:2282-2291 (Pubitemid 26392497)
25. Butinar D, Starr A, Zidar J, Koutsou P, Christodoulou K: Auditory nerve is affected in one of two different point mutations of the neurofilament light gene. Clin Neurophysiol 2007; 119: 367-375 (Pubitemid 350297141)
26. Cacace AT, Burkard RF: Auditory neuropathy: bridging the gap between basic science and current clinical concerns; in Cacace AT, Mc- Farland DJ (eds): Controversies in Central Auditory Processing Disorder. San Diego, Plural, 2009, pp 305-343
27. Cacace AT, Goldstein J, Parnes SM, Satya-Murti S, Wolpaw JR: Psychoacoustic and electrophysiologic effects of partial eighth nerve damage. Am J Otolaryngol 1984; 5: 43-48 (Pubitemid 14009075)
28. Cacace AT, Satya-Murti S, Grimes CT: Frequency selectivity and temporal processing in Friedreich ataxia: clinical aspects in two patients. Ann Otol Rhinol Laryngol 1983; 92: 276-280 (Pubitemid 13055550)
29. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al: Friedreichs ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271: 1423-1427 (Pubitemid 26089479)
30. Ceranic B, Luxon LM: Progressive auditory neuropathy in patients with Lebers hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 2004; 75: 626-630 (Pubitemid 38406665)
31. Chalmers RM, Schapira AH: Clinical, biochemical, and molecular genetic features of Lebers hereditary optic neuropathy. Biochim Biophys Acta 1999; 1410: 147-158 (Pubitemid 29078601)
32. Chan DC: Mitochondrial dynamics in disease. N Engl J Med 2007; 356: 1707-1709 (Pubitemid 46658702)
33. Chen H, Chan DC: Mitochondrial dynamics - fusion, fission, movement, and mitophagy in neurodegenerative diseases. Hum Mol Genet 2009; 18:R169-R176
34. Chisin R, Pearlman M, Sohmer H: Cochlear and brainstem responses in hearing loss following neonatal hyperbilirubinemia. Ann Otol Rhinol Laryngol 1979; 88: 352-357 (Pubitemid 9208665)
35. Clark RM, Bhaskar SS, Miyahara M, Dalgliesh GL, Bidishandani SI: Expansion of GAA trinucleotide repeats in mammals. Genomics 2006; 87: 57-67 (Pubitemid 43005102)
36. Corley VM, Crabbe LS: Auditory neuropathy and a mitochondrial disorder in a child: case study. J Am Acad Audiol 1999; 10: 484-488
37. Cowger ML, Igo RP, Labbe RF: The mechanism of bilirubin toxicity studied with purified respiratory enzyme and tissues culture systems. Biochemistry 1965; 4: 2763-2770
38. Day RL: Kernicterus problem: experimental in vivo and in vitro straining of brain tissue with bilirubin. Am J Dis Child 1947; 73: 241
39. Day RL: Inhibition of brain respiration in vitro by bilirubin: reversal of inhibition by various means. Am J Dis Child 1954; 88: 504-506
40. Dehne N, Rauen U, de Groot H, Lautermann J: Involvement of the mitochondrial permeability transition in gentamicin ototoxicity. Hear Res 2002; 169: 47-55 (Pubitemid 34733018)
41. Deltenre P, Mansbach AL, Bozet C, Clercx A, Hecox KE: Auditory neuropathy: a report on three cases with early onsets and major neonatal illnesses. Electroencephalogr Clin Neurophysiol 1997; 104: 17-22 (Pubitemid 27095046)
42. Dennery PA, Seidman DS, Stevenson DK: Neonatal hyperbilirubinemia. N Engl J Med 2001; 344: 581-590
43. Doré S, Takahashi M, Ferris CD, Hester LD, Guastella D, Snyder SH: Bilirubin formed by activation of heme oxygenase-2 protects neurons against oxidative stress injury. Proc Natl Acad Sci USA 1999; 96: 2445-2450 (Pubitemid 29117935)
44. Dugan LL, Sensi SL, Canzoniero LM, Handran SD, Rothman SM, Lin TS, et al: Mitochondrial production of reactive oxygen species in cortical neurons following exposure of N-methyl-D-aspartate. J Neurosci 1995; 15: 6377-6388
45. Dürr A, Cossee A, Agrid Y, Campuzano V, Mignard C, Penet C, et al: Clinical and genet ic abnormalities in patients with Friedreichs ataxia. N Engl J Med 1996; 335: 1169-1175 (Pubitemid 26339770)
46. Dyck PJ, Thomas PK: Peripheral Neuropathy. Amsterdam, Elsevier, 2005
47. Elverland HH, Torbergsen T: Audiologic findings in a family with mitochondrial disorder. Am J Otolaryngol 1991; 12: 459-465
48. Eriksen EF, Danielsen H, Brodersen R: Bilirubin- liposome interaction. J Biol Chem 1981; 256: 4269-4274
49. Ernster L, Zetterström R: Bilirubin, an uncoupler of oxidative phosphorylation in isolated mitochondria. Nature 1956; 178: 1335-1337
50. Fabrizi GM, Cavallaro Angiari C, Cabrini I, Taiolo F, Malerba G, et al: Charcot-Marie- Tooth disease type 2E, a disorder of the cytoskeleton. Brain 2006; 130: 1-10
51. Fischel-Ghodsian N: Genetic factors in aminoglycoside toxicity. Pharmacogenetics 2005; 6: 27-36 (Pubitemid 40220668)
52. Garrido C, Kroemer G: Lifes smile, deaths grin: vital functions of apoptosis-excecuting proteins. Curr Opin Cell Biol 2004; 16: 639-646
53. Gibson WPR, Graham JM: Editorial: auditory neuropathy and cochlear implantation - myths and facts. Cochlear Implants Int 2008; 9: 1-7
54. Gold M, Rapin I: Non-mendelian mitochondrial inheritance as a cause of progressive genetic sensorineural hearing loss. Int J Pediatr Otorhinolaryngol 1994; 30: 91-104 (Pubitemid 24183871)
55. Gordon N: Friedreichs ataxia and iron metabolism. Brain Dev 2000; 22: 465-468
56. Govaert P, Lequin M, Swarte R, Robben S, De Coo R, Weisglas-Kuperas N, et al: Changes in globus pallidus with (pre)term kernicterus. Pediatrics 2003; 112: 1256-1263 (Pubitemid 37523404)
57. Hallpike CS, Harriman DG, Wells CE: A case of afferent neuropathy and deafness. J Laryngol Otol 1980; 94: 945-964 (Pubitemid 10026017)
58. Hanko E, Tommarello S, Watchko JF, Hansen TW: Administration of drugs known to inhibit P-glycoprotein increases brain bilirubin and alters the regional distribution of bilirubin in rat brain. Pediatr Res 2003; 54: 441-445 (Pubitemid 37159109)
59. Hansen TWR, Tommarello S, Allen JW: Subcellular localization of bilirubim in rat brain after in vivo iv administration of [ 3 H] bilirubin. Pediatr Res 2001; 49: 203-207 (Pubitemid 32119216)
60. Harding AE, Thomas PK: The clinical features of hereditary motor and sensory neuropathy I and II. Brain 1980; 103: 259-280 (Pubitemid 10046623)
61. Hascoet JM: Control of brain intracellular bilirubin levels. Pediatr Res 2003; 54: 441-445
62. Hollenbeck PJ, Saxton WM: The axonal transport of mitochondria. J Cell Sci 2005; 118: 5411-5419 (Pubitemid 43079283)
63. Hood LJ, Berlin CI: Auditory neuropathy (auditory dys-synchrony) disables efferent suppression of otoacoustic emissions; in Sininger Y, Starr A (eds): Auditory Neuropathy. San Diego, Singular, 2003, pp 183-202
64. Huang T, Santarelli R, Starr A: Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals. Brain Res 2009; 1300: 97-104
65. Hutchin TP, Cortopassi GA: Mitochondria and the risk for deafness. Am J Audiol 1995; 4: 12-14
66. Ichas F, Mazat JP: From calcium signaling to cell death: two conformations for the mitochondrial permeability transition pore. Switching from low- to high-conductance state. Biochem Biophys Acta 1998; 1366: 33-50 (Pubitemid 28467021)
67. Ives NK, Bolas NM, Gardiner RM: The effects of bilirubin on brain energy metabolism during hyperosmolar opening of the blood brain barrier: an in vivo study using 31 P nuclear magnetic resonance spectroscopy. Pediatr Res 1989; 26: 356-361 (Pubitemid 19243216)
68. Iyanagi T: Molecular basis of multiple UDPglucuronosyltransferase isoenzyme deficiencies in the hyperbiliruminemic rat (Gunn rat). J Biol Chem 1991; 266: 24048-24052 (Pubitemid 21908903)
69. Jerger JJ, Hayes D: Diagnostic speech audiometry. Arch Otolaryngol 1977; 103: 216-222 (Pubitemid 8086414)
70. Jerger JJ, Jerger S: Diagnostic significance of PB word functions. Arch Otolaryngol 1971; 93: 573-580
71. Jin H, May M, Tranebjrg L, Kendall E, Fontan G, Jackson J, et al: A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 1996; 14: 177-180 (Pubitemid 26338799)
72. Johnston MV, Hoon AH: Possible mechanisms in infants for selective basal ganglion damage from asphyxia, kernicterus, or mitochondrial encephalopathies. J Child Neurol 2000; 15: 588-591
73. Julien JP: Neurofilament functions in health and disease. Curr Opin Neurobiol 1999; 9: 554-560
74. Kaplan J: Friedreichs ataxia is a mitochondrial disorder. Proc Natl Acad Sci USA 1999; 28: 10948-10949
75. Katona G, Buki B, Farkas Z, Pytel J, Simon-Nagy E, Hirschberg J: Transitory evoked otoacoustic emission (TEOAE) in a child with profound hearing loss. Int J Pediatr Otorhinolaryngol 1993; 26: 263-267 (Pubitemid 23146918)
76. Kim HJ, Sohn KM, Shy ME, Krazjewski KM, Hwang M, Park JH, et al: Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet 2007; 81: 552-558 (Pubitemid 47330213)
77. Kirby DM, Crawford M, Cleary MA, Dahl HH, Denett X, Thorburn DR: Respiratory chain complex I deficiency. An underdiagnosed energy generation disorder. Neurology 1999; 52: 1255-1264 (Pubitemid 29177931)
78. Koehler CM, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G: Human deafness dystonia syndrome is a mitochondrial disease. Proc Natl Acad Sci 1999; 96: 2141-2146 (Pubitemid 29117881)
79. Koeppen AH: The hereditary ataxias. J Neuropathol Exp Neurol 1998; 57: 531-543 (Pubitemid 28265596)
80. Kothe C, Fleischer S, Breitfuss A, Hess M: Unilateral auditory neuropathy. A rare differential diagnosis of unilateral deafness. HNO 2006; 54: 215-220
81. Kraus N, Bradlow AR, Cheatham MA, Cunningham J, King CD, Koch DB, et al: Consequences of neural asynchrony: a case of auditory neuropathy. J Assoc Res Otolaryngol 2000; 1: 33-45 (Pubitemid 32405390)
82. Kumar AU, Jayaram M: Auditory processing in individuals with auditory neuropathy. Behav Brain Funct 2005; 1: 1-8
83. Levine RL: The toxicity of bilirubin; in Levine RL, Maisels MT (eds): Hyperbilirubinemia in the Newborn. Report of the Eighty-Fifth Ross Conference on Pediatric Research, Columbus, 1983, pp 39-46
84. Liguori M, La Russa I, Manna I, Andreoli V, Caracciolo M, Spadfora P, et al: A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation. J Neurol 2008; 255: 127-129
85. Loundon N, Marcolla A, Roux I, Rouillon I, Denoyelle F, Feldman D, et al: Auditory neuropathy or endocochlear hearing loss? Otol Neurotol 2005; 26: 748-754 (Pubitemid 41026108)
86. Lucey JF, Hibbard E, Behrman RE, Esquivel De Gallardo FO, Windle WI: Kernicterus in asphyxiated newborn rhesus monkeys. Exp Neurol 1964; 9: 43
87. McDonald JW, Shapiro SM, Silverstein FS, Johnston MV: Role of glutamate receptor-mediated excitotoxicity in bilirubin-induced brain injury in the Gunn rat model. Exp Neurol 1998; 150: 21-29 (Pubitemid 28146419)
88. McLoughlin DJ, Howell ML: Bilirubin inhibition of enzymes involved in the mitochondrial malate-aspartate shuttle. Biochem Biophys Acta 1987; 893: 7-12
89. Menken M, Weinbach EC: Oxidative phosphorylation and respiratory control of brain mitochondria isolated from kernicteric rats. J Neurochem 1967; 14: 189-193
90. Merchant SN, McKenna MJ, Nadol JB, Kristiansen AG, Tropitzsch A, Lindal A, et al: Temporal bone histopathologic and genetic studies in Mohr-Tranbjaerg syndrome (DFN-1). Otol Neurotol 2001; 22: 506-511 (Pubitemid 32661950)
91. Michalewski HJ, Starr A, Zeng FG, Dimitrijevic: N100 cortical potentials accompanying disrupted auditory nerve activity in au ditory neuropathy (AN): effects of signal intensity and continuous noise. Clin Neurophysiol 2009; 120: 1352-1363
92. Morant A, Venture A, Alborch M, Garcia Callejo J, Pitarch Ribas MI, Algarra J: Auditory neuropathies in infants. Acta Otorhinolaryngol Esp 2000; 51: 530-534
93. Mohr J, Magery K: Sex-linked deafness of a possibly new type. Acta Genet Stat Med 1960; 10: 54-62
94. Mustafa MG, Cowger ML, King TE: The effects of bilirubin on mitochondrial reactions. J Biol Chem 1969; 244: 6403-6414
95. Nakamura H, Takada S, Shimabuku R, Matsuo M, Matsuo T, Negishi H: Auditory nerve and brainstem responses in newborn infants with hyperbilirubinemia. Pediatrics 1985; 75: 703-708 (Pubitemid 15079523)
96. Neupert W, Brunner M: The protein import motor of mitochondria. Nat Rev 2002; 3: 555-565
97. Newman TB, Escobar GJ, Gonzalez VM, Armstrong MA, Gardner MN, Folck BF: Frequency of neonatal bilirubin testing and hyperbilirubinemia in a large health maintenance organization. Pediatrics 1999;104:1198-1203 (Pubitemid 29529171)
98. Niemann A, Berger P, Suter U: Pathomechanisms of mutant proteins in Charcot-Marie- Tooth disease. Neuromolecular Med 2006; 8: 217-241
99. Noir BA, Boveris A, Garaza Pereira AM, Stoppani AO: Bilirubin: a multi-site inhibitor of mitochondrial respiration. FEBS Lett 1972; 27: 270-274
100. Norton SJ: Application of transient evoked otoacoustic emissions to pediatric populations. Ear Hear 1993; 43: 64-73 (Pubitemid 23062876)
101. Novelli A, Reilly JA, Lysko PG, Henneberry RC: Glutamate becomes neurotoxic via the Nmethyl- D -aspartate receptor when intracellular energy levels are reduced. Brain Res 1988; 451: 205-212
102. Ostrow JD, Pascolo L, Tiribelli C: Reassessment of the unbound concentrations of unconjugated bilirubin in relation to neurotoxity in vivo. Pediatr Res 2003; 54: 98-104 (Pubitemid 36736813)
103. Ostrow JD, Tiribelli C: Bilirubin, a curse and a boon. Gut 2003; 52: 1668-1670 (Pubitemid 37510383)
104. Pandolfo M: Molecular pathogenesis of Friedreich ataxia. Arch Neurol 1999; 56: 1201-1208 (Pubitemid 29473211)
105. Paschen SA, Neupert W: Protein import into mitochondria. IUBMB Life 2001; 52: 101-112 (Pubitemid 33731562)
106. Peng TI, Greenamyre JT: Privileged access to mitochondria of calcium influx through Nmethyl- D-aspartate receptors. Mol Pharm 1998;53:974-980 (Pubitemid 28280438)
107. Penn AA, Enzmann DR, Hahn JS, Stevenson DK: Kernicterus in a full term infant. Pediatrics 1994; 93: 1003-1006 (Pubitemid 24163356)
108. Perez-Olle R, Lopez-Toledano MA, Goryunov D, Cabrera-Poch N, Stefanis L, Brown K, et al: Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport. J Neurochem 2005; 93: 861-874 (Pubitemid 40695745)
109. Petit PX, Zamzami N, Vayssiere JL, Mignotti B, Kroemer G, Castedo M: Implication of mitochondria in apoptosis. Mol Cell Biochem 1997; 174: 185-188 (Pubitemid 27404188)
110. Pickles JO: Mutation in mitochondrial DNA as a cause of presbyacusis. Audiol Neurotol 2004; 9: 23-33 (Pubitemid 37548243)
111. Pickles JO: An Introduction to the Physiology of Hearing, ed 3. Bingley, Emerald, 2008
112. Podwall A, Podwall D, Gordon TG, Lamendola P, Gold AP: Unilateral auditory neuropathy: case study. J Child Neurol 2002; 17: 306-309 (Pubitemid 34823430)
113. Psarommatis I, Riga M, Douros K, Koltsidopoulos P, Douniadakis D, Kapetanakis, et al: Transient infantile auditory neuropathy and its clinical implications. Int J Pediatr Otorhinolaryngol 2006; 70: 1629-1637 (Pubitemid 44188920)
114. Puccio H, Koenig M: Friedreich ataxia: a paradigm for mitochondrial diseases. Curr Opin Genet Dev 2002; 12: 272-277 (Pubitemid 34663760)
115. Rance G, Corben L, Barker E, Chisari D, Rogers D, Dowell M, et al: Auditory perception in individuals with Friedreichs ataxia. Audiol Neurotol 2010; 15: 229-240
116. Rance G, Fava R, Baldock H, Chong A, Barker E, Corben L, et al: Speech perception ability in individuals with Friedreich ataxia. Brain 2008; 131: 202-212
117. Rapin I, Gravel JS: Auditory neuropathy: physiologic and pathologic evidence calls for more diagnostic specificity. Int J Pediatr Otorhinolaryngol 2003; 67: 707-728 (Pubitemid 36677535)
118. Rapin I, Gravel JS: Auditory neuropathy: a biologically inappropriate label unless acoustic nerve involvement is documented. J Am Acad Audiol 2006; 17: 147-150 (Pubitemid 351324933)
119. Rhee CK, Park HM, Jang YJ: Audiologic evaluation of neonates with severe hyperbilirubinemia using transiently evoked otoacoustic emissions and auditory brainstem responses. Laryngoscope 1999; 109: 2005-2008
120. Riback P, Cacace AT, Rivkin M, Bottiggi J, Russo T: Respiratory chain Complex I deficiency in a child with auditory and visual degeneration: a potentially treatable cause for sensory/ motor dysfunctions. Hered Deaf Newslett 2000; 17: 23-24
121. Rice AC, Shapiro SM: Biliverdin-induced brainstem auditory evoked potential abnormalities in the jaundiced Gunn rat. Brain Res 2006; 1107: 215-221 (Pubitemid 44205127)
122. Richter D, Conley ME, Rohrer J, Myers LA, Zahradka K, Kelecic J, et al: A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. Pediatr Allergy Immunol 2001; 12: 107-111 (Pubitemid 32298587)
123. Rodrigues CMP, Solá S, Silva R, Brites D: Bilirubin and amyloid-beta peptide induce cytochrome c release through mitochondrial membrane permeabilization. Mol Med 2000; 6: 936-946
124. Roesch K, Curran SP, Tranbjaerg L, Koehler CM: Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/ TIMM8a-TIMM13 complex. Hum Mol Genet 2002;11:477-486 (Pubitemid 34257484)
125. Roesch K, Hynds PJ, Varga R, Tranebjrg L, Koehler CM: The calcium-binding aspartate/ glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a- TIMM13 complex. Hum Mol Genet 2004; 13:2101-2111 (Pubitemid 39377832)
126. Rogers PA, Stevenson DK: Developmental biology of heme oxygenase. Clin Perinatol 1990; 17: 275-291 (Pubitemid 20208869)
127. Roy S, Zhang B, Lee VM, Trojanowski JQ: Axon transport defects: a common theme in neurodegenerative diseases. Acta Neuropathol 2005; 109: 5-13 (Pubitemid 40287785)
128. Rubboli G, Ronchi F, Cecchi P, Rizzi R, Gardella E, Meletti S, et al: A neurophysiological study in children and adolescents with Crigler- Najjar syndrome type I. Neuropediatrics 1997; 28: 281-286 (Pubitemid 27487738)
129. Saluja S, Agarwal A, Kler N, Amin S: Auditory neuropathy spectrum disorder in late preterm and term infants with severe jaundice. Int J Pediatr Otorhinolaryngol 2010; 74: 1292-1297
130. Salvinelli F, Firrisi L, Greco F, Trivelli M, DAscanio L: Preserved otoacoustic emissions in postparotitis profound unilateral hearing loss: a case report. Ann Otol Rhinol Laryngol 2004; 113: 887-890 (Pubitemid 39488440)
131. Santarelli R, Arslan E: Electrocochleography in auditory neuropathy. Hear Res 2002; 170: 32-47
132. Santoro L, Perretti A, Lanzillo B, Coppola G, De Joanna G, Manganelli F, et al: Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreichs ataxia: contribution to the understanding of the pathophysiology of the disease. Clin Neurophysiol 2000; 111: 1023-1030 (Pubitemid 30316341)
133. Satya-Murti S, Cacace AT: Auditory evoked potentials in disorders of the primary sensory ganglion; in Courjon J, Mauguiere F, Revol M (eds): Clinical Applications of Evoked Potentials in Neurology. Adv Neurol. New York, Raven Press, 1982, vol 32, pp 219-225
134. Satya-Murti S, Cacace AT, Hanson P: Abnormal auditory evoked potentials in hereditary motor sensory neuropathy. Ann Neurol 1979; 5: 445-448 (Pubitemid 9150136)
135. Satya-Murti S, Cacace AT, Hanson P: Auditory dysfunction in Friedreich ataxia: result of spiral ganglion degeneration. Neurology 1980; 30: 1047-1053 (Pubitemid 10020846)
136. Satya-Murti S, Wolpaw JR, Cacace AT, Schaffer C: Late auditory evoked potentials can occur without brainstem potentials. Electroencephalogr Clin Neurophysiol 1983; 56: 304-308 (Pubitemid 13008691)
137. Schatz G, Dobberstein B: Common principles of protein translocation across membranes. Science 1996; 271: 1519-1526 (Pubitemid 26097210)
138. Schipper HM: Heme oxygenase expression in human central nervous system disorders. J Free Radic Biol Med 2004; 15: 1995-2011 (Pubitemid 39491319)
139. Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, et al: Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 1999; 21: 260-261 (Pubitemid 29124929)
140. Schutta HS, Johnson L, Neville HE: Mitochondrial abnormalities in bilirubin encephalopathy. J Neuropathol Exp Neurol 1970; 29: 296-305
141. Seeman P, Mazanec R, Huehne K, Suslikova P, Keller O, Rautenstrauss B: Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation. Neurology 2004; 63: 733-735 (Pubitemid 39100839)
142. Seidman MD, Ahmad N, Bai U: Molecular mechanisms of age-related hearing loss. Aging Res Rev 2002; 1: 331-343 (Pubitemid 38340328)
143. Shaia WT, Shapiro SM, Spencer RF: The jaundiced Gunn rat model of auditory neuropathy/ dys-synchrony. Laryngoscope 2005; 115: 2167-2173 (Pubitemid 44391630)
144. Shapiro SM: Bilirubin toxicity in the developing nervous system. Pediatr Neurol 2003; 29: 410-421 (Pubitemid 37543676)
145. Shapiro SM, Nakamura H: Bilirubin and the auditory system. J Perinatol 2001; 21(suppl 1):S59-S62
146. Shapiro SM, Te Selle M: Cochlear microphonics in the jaundiced Gunn rat. Am J Otolaryngol 1994; 15: 129-137
147. Sherwood AJ, Smith JF: Bilirubin encephalopathy. Neuropathol Appl Neurobiol 1983; 9: 271
148. Sheykholeslami K, Kaga K: Otoacoustic emissions and auditory brainstem responses after neonatal hyperbilirubinemia. Int J Pediatr Otorhinolaryngol 2000; 52: 65-73 (Pubitemid 30123034)
149. Shy ME: Charcot-Marie-Tooth disease: an update. Curr Opin Neurol 2004; 17: 579-585 (Pubitemid 39410874)
150. Silver S, Kaputulnik J, Sohmer H: Contribution of asphyxia to the induction of hearing impairment in jaundiced Gunn rats. Pediatrics 1995; 95: 579-583
151. Simmons JL, Beauchaine KL: Auditory neuropathy: case study with hyperbilirubinemia. J Am Acad Audiol 2000; 11: 337-347 (Pubitemid 30609998)
152. Skre H: Genetic and clinical aspects of Charcot- Marie-Tooths disease. Clin Genet 1974; 6: 98-118
153. Song Z, Ghochani M, McCaffrey, JM, Frey TG, Chan DC: Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion. Mol Biol Cell 2009; 20: 3525-3532
154. Spoendlin H: Optic and cochleovestibular degeneration in hereditary ataxias. 2. Temporal bone pathology in two cases of Friedreichs ataxia with vestibulo-cochlear disorders. Brain 1974; 97: 41-48
155. Starr A, McPherson D, Patterson J, Don M, Luxford W, Shannon R, et al: Absence of both auditory evoked potentials and auditory percepts dependent on timing cues. Brain 1991; 114: 1157-1180
156. Starr A, Picton TW, Sininger Y, Hood LJ, Berlin CI: Auditory neuropathy. Brain 1996; 119: 741-753 (Pubitemid 26237173)
157. Starr A, Michalewski HJ, Zeng FG, Fujikawa- Brooks S, Linthicum F, Kim CS, et al: Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145- 1 Ser). Brain 2003; 126: 1604-1619 (Pubitemid 36834937)
158. Stevenson DK, Vreman HJ: Carbon monoxide and bilirubin production in neonates. Pediatrics 1997; 100: 252-254 (Pubitemid 27328205)
159. Stevenson DK, Vreman HJ, Wong RJ, Contag CH: Carbon monoxide and bilirubin production in neonates. Semin Perinatol 2001; 25: 85-93 (Pubitemid 32336539)
160. Stocker R, Yamamoto Y, McDonagh AF, Glazer AN, Ames BN: Bilirubin is an antioxidant of possible physiologic importance. Science 1987; 235: 1043-1046 (Pubitemid 17049750)
161. Stout AK, Raphael HM, Kanterewicz BI, Klann E, Reynolds IJ: Glutamate-induced neuron death requires mitochondrial calcium uptake. Nature Neurosci 1998;1:366-373
162. Stumpf DA, Eguren LA, Parks JK: Bilirubin increases mitochondrial inner membrane conductance. Biochem Med 1985; 34: 226-229 (Pubitemid 16220750)
163. Sue CM, Hirano M, DiMauro S, DeVivo DC: Neonatal presentations of mitochondrial metabolic disorders. Semin Perinatol 1999; 23: 113-124 (Pubitemid 29211007)
164. Suter U, Scherer SS: Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 2003; 4: 714-726 (Pubitemid 37280151)
165. Tan KL, Skurr BA, Yip YY: Phototherapy and the brain-stem auditory evoked response in neonatal hyperbilirubinemia. J Pediatr 1992; 120: 306-308
166. Taylor MJ, McMenamin JB, Andermann E, Watters GV: Electrophysiological investigation of the auditory system in Friedreichs ataxia. Can J Neurol Sci 1982; 9: 131-135 (Pubitemid 12081607)
167. Tranebjrg L: Deafness-dystonia-optic neuronopathy syndrome; in Pagon RA, Bird TC, Dolan CR, Stephens K (eds): GeneReviews. Seattle, University of Washington, 2009. http://www.ncbi.nlm.nih.gov/pubmed/ 20301395 (updated March 24, 2009)
168. Tranebjrg L, Jensen PKA, Ghelue MV, Vnencak- Jones CL, Sund S, Elgjo K, et al: Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. Ophthalmic Genet 2001; 22: 207-223 (Pubitemid 34497302)
169. Tranebjrg L, Schwartz C, Eriksen H, Andreasson S, Ponvjavic V, Dahl A, et al: A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 1995; 32: 257-263
170. Turkel SB: Autopsy findings associated with neonatal hyperbilirubinemia. Clin Perinatol 1990; 17: 381-396 (Pubitemid 20208875)
171. Vitek JL, Chockkan V, Zhang JY, Kaneoke Y, Evatt M, DeLong MR, et al: Neuronal activity in the basal ganglia in patients with generalized dystonia and hemiballismus. Ann Neurol 1999; 46: 22-35 (Pubitemid 29314379)
172. Wallace DC: Why do we have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. Annu Rev Biochem 2007; 76: 781-821
173. Wallace DC, Fan W, Procaccio V: Mitochondrial energetics and therapeutics. Annu Rev Pathol 2010; 5: 297-348
174. Wallace DC, Singh G, Lott, MT, Hodge JA, Schurr TG, Lezza AM, et al: Mitochondrial DNA mutation associated with Lebers hereditary optic neuropathy. Science 1988; 242: 1427-1430 (Pubitemid 19008070)
175. Watchko JF: Kernicterus and the molecular mechanisms of bilirubin-induced CNS injury in newborns. Neuromolecular Med 2006; 8: 513-529
176. Watchko JF, Daood MJ, Mahmood B, Vats K, Hart C, Ahdab-Barmada M: P-glycoprotein and bilirubin disposition. J Perinatol 2001; 21(suppl 1):S59-S62
177. Wood S, Mason S, Farnsworth A, Davis A, Curnock DA, Lutman ME: Anomalous screening outcomes from click-evoked otoacoustic emissions and auditory brainstem response tests. Br J Audiol 1998; 32: 399-410 (Pubitemid 29050667)
178. Worley G, Erwin CW, Goldstein RF, Provenzale JM, Ware RE: Delayed development of sensorineural hearing loss after neonatal hyperbilirubinemia: a case report with brain magnetic resonance imaging. Dev Med Child Neurol 1996;
179. Xu Z, Marzelek JR, Lee MK, Wong PC, Folmer J, Crawford TO, et al: Subunit composition of neurofilaments specifies axonal diameter. J Cell Biol 1996; 133: 1061-1069 (Pubitemid 26172511)
180. Young P, Suter U: The causes of Charcot-Marie- Tooth disease. Cell Mol Life Sci 2003; 60: 2547-2560
181. Yu-Wai-Man P, Elliot C, Griffiths PG, Johnson IJ, Chinnery PF: Investigation of auditory dysfunction in Leber hereditary optic neuropathy. Acta Ophthalmol Scand 2008; 86: 630-633
182. Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco, Wright AF, Auer-Grumbach M, et al: Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010; 133: 771-786
183. Zamzami N, Hirsch T, Dallaporta B, Petit PX, Kroemer G: Mitochondrial implication in accidental and programmed cell death: apoptosis and necrosis. J Bioenerg Biomembr 1997; 29: 185-193 (Pubitemid 27314976)
184. Zanna C, Ghelli A, Porcelli AM, Martinuzzi A, Carelli V, Rugolo M: Caspase-independent death of Lebers hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and endonuclease G. Apoptosis 2005; 10: 997-1007 (Pubitemid 41285578)
185. Zetterström R, Ernster L: Bilirubin, an uncoupler of oxidative phosphorylation in isolated mitochondria. Nature 1956; 178: 1335-1337
186. Zeng FG, Oba S, Garde S, Sininger Y, Starr A: Temporal and speech processing deficits in auditory neuropathy. Neuroreport 1999; 10: 3429-3435
187. Züchner S, Vance JM: Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract 2006; 2: 45-53.