An overview of the etiology of otosclerosis

Valsalva A (1741) Valsalvae opera et Morgagni epistolae. Venetiis, Italy: Francescus Pitteri:Venetiis. Francescus Pitteri, Italy

Politzer A (1894) Uber primare erkrankung der knockernen labyrinthkapsel. Zeitschrift Fur Ohrenheilkunde 25:309–327

Troltsch Av (1869) Treatise on the diseases of the ear including the anatomy of the organ. William Wood, New York

Siebenman F (1912) Totaler knocherner verschluss beider labyrinthfester und labyrinthitis serosa infolge progessiver spongiosierung. Verhanlungen Deutschen Otologischenn Gesellschaft 6:267–283

Chole RA, McKenna M (2001) Pathophysiology of otosclerosis. Otol Neurotol 22(2):249–257

Iyer PV, Gristwood RE (1984) Histopathology of the stapes in otosclerosis. Pathology 16(1):30–38

Cummings C (1999) Otolaryngology-Head and Neck Surgery. Mosby, pp 535–538

Altmann F, Glasgold A, Macduff JP (1967) The incidence of otosclerosis as related to race and sex. Ann Otol Rhinol Laryngol 76(2):377–392

Morrison AW (1967) Genetic factors in otosclerosis. Ann R Coll Surg Engl 41(2):202–237

Gapany-Gapanavicius B (1975) The incidence of otosclerosis in the general population. Isr J Med Sci 11(5):465–468

Causse JR, Causse JB (1984) Otospongiosis as a genetic disease. Early detection, medical management, and prevention. Am J Otol 5(3):211–223

Levin G, Fabian P, Stahle J (1988) Incidence of otosclerosis. Am J Otol 9(4):299–301

Cajade Frias J, Labella Caballero T (2003) Epidemiological aspects of otosclerosis (1). Its frequency in comparison with other ear pathologies, incidence and prevalence. An Otorrinolaringol Ibero Am 30(1):1–15

Joseph RB, Frazer JP (1964) Otosclerosis Incidence in Caucasians and Japanese. Arch Otolaryngol 80:256–262

Ohtani I, Baba Y, Suzuki T, Suzuki C, Kano M, Deka RC (2003) Why is otosclerosis of low prevalence in Japanese? Otol Neurotol 24(3):377–381

Kapur YP, Patt AJ (1966) Otosclerosis in South India. Acta Otolaryngol 61(4):353–360

Hueb MM, Goycoolea MV, Paparella MM, Oliveira JA (1991) Otosclerosis: the University of Minnesota temporal bone collection. Otolaryngol Head Neck Surg 105(3):396–405

Guild SR (1944) Histologic otosclerosis. Ann Otol Rhinol Laryngol 53:246–247

CB Davenport BM, LB Frink (1933) The genetic factor in otosclerosis. Arch Otolaryngol 17:135–170, 340–383, 503–548

Tod H (1907) Diseases of the ear. Oxford University Press, London, pp 120–124

Manolidis S, Alford RL, Smith RJ, Ball C, Manolidis L (2003) Do the genes that cause otosclerosis reduce susceptibility to otitis media? Otol Neurotol 24(6):868–871

Larsson A (1960) Otosclerosis. A genetic and clinical study. Acta Otolaryngol Suppl 154:1–86

Wullstein H (1958) Die audiologische und klinische Problemstellung bei der Operation der Stapesankylose (Stapedalyse und Fenestation). Zschr Laryng 37:368–374

Albrecht W (1922) Uber der Vererbung der konstitutionell sporadischen Taubstummheit der hereditaren Labyrinthscwerhorigkeit und der Otosclerose. Arch Ohr Nas Kehlkopfheilk 110:15–48

Bauer JSC (1925) Vererbung und Konstitution bei Ohrenkrankheiten. Zeitsscrift fur die gesamte Anatomie, Part II, Zeitschrift fur Konstitutionslehre 10:483–545

Morrison AW, Bundey SE (1970) The inheritance of otosclerosis. J Laryngol Otol 84(9):921–932

Ben Arab S, Bonaiti-Pellie C, Belkahia A (1993) A genetic study of otosclerosis in a population living in the north of Tunisia. Ann Genet 36(2):111–116

Schaap T, Gapany-Gapanavicius B (1978) The genetics of Otosclerosis. I. Distorted sex ratio. Am J Hum Genet 30(1):59–64

Tato JM, De Lozzio CB, Valencia JI (1963) Chromosomal study in otosclerosis. Acta Otolaryngol 56:265–270

Jannuzzis S (1929) Gruppi sanguigni ed otosclerosi. Arch Ital Otol Rinol Laringol 40:499–518

McKenna MJ, Kristiansen AG, Bartley ML, Rogus JJ, Haines JL (1998) Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. Am J Otol 19(5):604–610

McKenna MJ, Nguyen-Huynh AT, Kristiansen AG (2004) Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. Otol Neurotol 25(4):447–450

Rodriguez L, Rodriguez S, Hermida J, Frade C, Sande E, Visedo G, Martin C, Zapata C (2004) Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. Am J Med Genet A 128(1):19–22

Tomek MS, Brown MR, Mani SR, Ramesh A, Srisailapathy CR, Coucke P, Zbar RI, Bell AM, McGuirt WT, Fukushima K, Willems PJ, Van Camp G, Smith RJ (1998) Localization of a gene for otosclerosis to chromosome 15q25–q26. Hum Mol Genet 7(2):285–290

Valhmu WB, Palmer GD, Rivers PA, Ebara S, Cheng JF, Fischer S, Ratcliffe A (1995) Structure of the human aggrecan gene: exon-intron organization and association with the protein domains. Biochem J 309(Pt 2):535–542

Van Den Bogaert K, Govaerts PJ, Schatteman I, Brown MR, Caethoven G, Offeciers FE, Somers T, Declau F, Coucke P, Van de Heyning P, Smith RJ, Van Camp G (2001) A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. Am J Hum Genet 68(2):495–500

Alzoubi FQ, Ollier WR, Ramsden RT, Saeed SR (2007) No evidence of linkage between 7q33–36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. J Laryngol Otol 121(12):1140–1147

Chen W, Campbell CA, Green GE, Van Den Bogaert K, Komodikis C, Manolidis LS, Aconomou E, Kyamides Y, Christodoulou K, Faghel C, Giguere CM, Alford RL, Manolidis S, Van Camp G, Smith RJ (2002) Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. J Med Genet 39(7):473–477

Brownstein Z, Goldfarb A, Levi H, Frydman M, Avraham KB (2006) Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. Arch Otolaryngol Head Neck Surg 132(4):416–424

Van Den Bogaert K, De Leenheer EM, Chen W, Lee Y, Nurnberg P, Pennings RJ, Vanderstraeten K, Thys M, Cremers CW, Smith RJ, Van Camp G (2004) A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24. J Med Genet 41(6):450–453

Iliadou V, Van Den Bogaert K, Eleftheriades N, Aperis G, Vanderstraeten K, Fransen E, Thys M, Grigoriadou M, Pampanos A, Economides J, Iliades T, Van Camp G, Petersen MB (2006) Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. Int J Pediatr Otorhinolaryngol 70(4):631–637

Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G (2007) A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1. Eur J Hum Genet 15(3):362–368

Bel Hadj Ali I, Thys M, Beltaief N, Schrauwen I, Hilgert N, Vanderstraeten K, Dieltjens N, Mnif E, Hachicha S, Besbes G, Ben Arab S, Van Camp G (2008) A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9. Hum Genet 123(3):267–272

McKenna MJ, Mills BG, Galey FR, Linthicum FH Jr (1986) Filamentous structures morphologically similar to viral nucleocapsids in otosclerotic lesions in two patients. Am J Otol 7(1):25–28

Arnold W, Friedmann I (1987) Detection of measles and rubella-specific antigens in the endochondral ossification zone in otosclerosis. Laryngol Rhinol Otol (Stuttg) 66(4):167–171

Arnold W, Friedmann I (1988) Otosclerosisan—inflammatory disease of the otic capsule of viral aetiology? J Laryngol Otol 102(10):865–871

Arnold W, Friedmann I (1990) Immunohistochemistry of otosclerosis. Acta Otolaryngol Suppl 470:124–128 discussion 128–129

McKenna MJ, Mills BG (1989) Immunohistochemical evidence of measles virus antigens in active otosclerosis. Otolaryngol Head Neck Surg 101(4):415–421

Roald B, Storvold G, Mair IW, Mjoen S (1992) Respiratory tract viruses in otosclerotic lesions. An immunohistochemical study. Acta Otolaryngol 112(2):334–338

Niedermeyer H, Arnold W, Neubert WJ, Hofler H (1994) Evidence of measles virus RNA in otosclerotic tissue. ORL J Otorhinolaryngol Relat Spec 56(3):130–132

McKenna MJ KA (1994) Isolation and identification of nucleic acid sequences from celloidin embedded human bone sections using polymerase chain reaction. Proceedings of the fourth international academic conference on immunobiology in otology, rhinology and laryngology, Kugler, New York, pp 283–288

Niedermeyer HP, Arnold W, Neubert WJ, Sedlmeier R (2000) Persistent measles virus infection as a possible cause of otosclerosis: state of the art. Ear Nose Throat J 79(8):552–554 556, 558 passim

Niedermeyer HP, Arnold W (1995) Otosclerosis: a measles virus associated inflammatory disease. Acta Otolaryngol 115(2):300–303

Arnold W, Busch R, Arnold A, Ritscher B, Neiss A, Niedermeyer HP (2007) The influence of measles vaccination on the incidence of otosclerosis in Germany. Eur Arch Otorhinolaryngol 264(7):741–748

Shea JJ Jr (1998) A personal history of stapedectomy. Am J Otol 19(5 Suppl):S2–S12

Grayeli AB, Palmer P, Tran Ba Huy P, Soudant J, Sterkers O, Lebon P, Ferrary E (2000) No evidence of measles virus in stapes samples from patients with otosclerosis. J Clin Microbiol 38(7):2655–2660

Karosi T, Konya J, Petko M, Szabo LZ, Pytel J, Jori J, Sziklai I (2005) Two subgroups of stapes fixation: otosclerosis and pseudo-otosclerosis. Laryngoscope 115(11):1968–1973

Karosi T, Konya J, Szabo LZ, Pytel J, Jori J, Szalmas A, Sziklai I (2005) Codetection of measles virus and tumor necrosis factor-alpha mRNA in otosclerotic stapes footplates. Laryngoscope 115(7):1291–1297

Karosi T, Konya J, Szabo LZ, Sziklai I (2007) Measles virus prevalence in otosclerotic foci. Adv Otorhinolaryngol 65:93–106

Karosi T, Konya J, Szabo LZ, Sziklai I (2004) Measles virus prevalence in otosclerotic stapes footplate samples. Otol Neurotol 25(4):451–456

Karosi T, Konya J, Petko M, Sziklai I (2005) Histologic otosclerosis is associated with the presence of measles virus in the stapes footplate. Otol Neurotol 26(6):1128–1133

Karosi T, Jokay I, Konya J, Szabo LZ, Pytel J, Jori J, Szalmas A, Sziklai I (2006) Detection of osteoprotegerin and TNF-alpha mRNA in ankylotic Stapes footplates in connection with measles virus positivity. Laryngoscope 116(8):1427–1433

Karosi T, Jokay I, Konya J, Petko M, Szabo LZ, Pytel J, Jori J, Sziklai I (2006) Activated osteoclasts with CD51/61 expression in otosclerosis. Laryngoscope 116(8):1478–1484

Gantumur T, Niedermeyer HP, Neubert WJ, Arnold W (2006) Molecular detection of measles virus in primary cell cultures of otosclerotic tissue. Acta Otolaryngol 126(8):811–816

Karosi T, Konya J, Petko M, Szabo LZ, Pytel J, Jori J, Sziklai I (2006) Antimeasles immunoglobulin g for serologic diagnosis of otosclerotic hearing loss. Laryngoscope 116(3):488–493

Karosi T, Jokay I, Konya J, Petko M, Szabo LZ, Sziklai I (2007) Expression of measles virus receptors in otosclerotic, non-otosclerotic and in normal stapes footplates. Eur Arch Otorhinolaryngol 264(6):607–613

Niedermeyer HP, Gantumur T, Neubert WJ, Arnold W (2007) Measles virus and otosclerosis. Adv Otorhinolaryngol 65:86–92

Lolov S, Edrev G, Kyurkchiev S (2007) Antimeasles immunoglobulin G and virus-neutralizing activity in sera of patients with otosclerosis. Adv Otorhinolaryngol 65:107–113

Schmidt E (1933) Erblichkeit und Graviditat bei der Otosklerose. Arch Ohr Nas Kehlk Heilk 136:188–210

Cawthorne T (1955) Otosclerosis. J Laryngol Otol 69(7):437–456

Gristwood RE, Venables WN (1983) Pregnancy and otosclerosis. Clin Otolaryngol Allied Sci 8(3):205–210

Pearson E (1951) The effect of pregnancy on otosclerosis. Ann West Med Surg 5(5):477–482

Greifenstein (1939) Schwangerschaftsunterbrechung und unfruchtbarmachung aus gesundheitlichen Grunden bei Otosklerose. Zeitschrift fur halsnasen und ohrenheilkunde 46:344–362

Hall JG (1974) Otosclerosis in Norway, a geographical and genetical study. Acta Otolaryngol Suppl 324:1–20

Lippy WH, Berenholz LP, Schuring AG, Burkey JM (2005) Does pregnancy affect otosclerosis? Laryngoscope 115(10):1833–1836

Jensen KJ, Nielsen HE, Elbrond O, Hansen HH (1979) Mineral content of skeletal bones in otosclerosis. Clin Otolaryngol Allied Sci 4(5):339–342

Lolov SR, Edrev GE, Kyurkchiev SD, Kehayov IR (1998) Elevated autoantibodies in sera from otosclerotic patients are related to the disease duration. Acta Otolaryngol 118(3):375–380

Grayeli AB, Sterkers O, Roulleau P, Elbaz P, Ferrary E, Silve C (1999) Parathyroid hormone-parathyroid hormone-related peptide receptor expression and function in otosclerosis. Am J Physiol 277(6 Pt 1):E1005–E1012

Yoo TJ, Stuart JM, Kang AH, Townes AS, Tomoda K, Dixit S (1982) Type II collagen autoimmunity in otosclerosis and Meniere’s Disease. Science 217(4565):1153–1155

Bujia J, Alsalameh S, Jerez R, Sittinger M, Wilmes E, Burmester G (1994) Antibodies to the minor cartilage collagen type IX in otosclerosis. Am J Otol 15(2):222–224

Solvsten Sorensen M, Nielsen LP, Bretlau P, Jorgensen MB (1988) The role of type II collagen autoimmunity in otosclerosis revisited. Acta Otolaryngol 105(3–4):242–247

Yoo TJ, Tomoda K, Stuart JM, Kang AH, Townes AS (1983) Type II collagen-induced autoimmune otospongiosis. A preliminary report. Ann Otol Rhinol Laryngol 92(2 Pt 1):103–108

Harris JP, Woolf NK, Ryan AF (1986) A reexamination of experimental type II collagen autoimmunity: middle and inner ear morphology and function. Ann Otol Rhinol Laryngol 95(2 pt 1):176–180

Menger DJ, Tange RA (2003) The aetiology of otosclerosis: a review of the literature. Clin Otolaryngol Allied Sci 28(2):112–120

Gregoriadis S, Zervas J, Varletzidis E, Toubis M, Pantazopoulos P, Fessas P (1982) HLA antigens and otosclerosis. A possible new genetic factor. Arch Otolaryngol 108(12):769–771

Dahlqvist A, Diamant H, Dahlqvist SR, Cedergren B (1985) HLA antigens in patients with otosclerosis. Acta Otolaryngol 100(1–2):33–35

Miyazawa T, Tago C, Ueda H, Niwa H, Yanagita N (1996) HLA associations in otosclerosis in Japanese patients. Eur Arch Otorhinolaryngol 253(8):501–503

Pedersen U, Madsen M, Lamm LU, Elbrond O (1983) HLA-A, -B, -C antigens in otosclerosis. J Laryngol Otol 97(12):1095–1097

Chobaut JC, Bertrand D, Raffoux C, Wayoff M (1982) HLA antigens in otosclerosis. Am J Otol 3(3):241–242

Thys M, Schrauwen I, Vanderstraeten K, Janssens K, Dieltjens N, Van Den Bogaert K, Fransen E, Chen W, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Claes J, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G (2007) The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Hum Mol Genet 16(17):2021–2030

Lehnerdt G, Metz KA, Trellakis S, Jahnke K, Neumann A (2007) Signaling by way of type IB and II bone morphogenetic protein receptors regulates bone formation in otospongiosis. Laryngoscope 117(5):812–816

Schrauwen I, Thys M, Vanderstraeten K, Fransen E, Dieltjens N, Huyghe JR, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G (2008) Association of bone morphogenetic proteins with otosclerosis. J Bone Miner Res 23(4):507–516

Kostenuik PJ, Shalhoub V (2001) Osteoprotegerin: a physiological and pharmacological inhibitor of bone resorption. Curr Pharm Des 7(8):613–635

Rosa-Ranal M, de la Cruz DA, Lorena-Rubio Y, Larrea F (2001) New paradigms in the regulation of bone metabolism. Rev Invest Clin 53(4):362–369

Simonet WS, Lacey DL, Dunstan CR, Kelley M, Chang MS, Luthy R, Nguyen HQ, Wooden S, Bennett L, Boone T, Shimamoto G, DeRose M, Elliott R, Colombero A, Tan HL, Trail G, Sullivan J, Davy E, Bucay N, Renshaw-Gegg L, Hughes TM, Hill D, Pattison W, Campbell P, Sander S, Van G, Tarpley J, Derby P, Lee R, Boyle WJ (1997) Osteoprotegerin: a novel secreted protein involved in the regulation of bone density. Cell 89(2):309–319

Nakamura M, Udagawa N, Nakamura H (2006) Bone remodeling and mineral homeostasis. Clin Calcium 16(1):46–53

Zehnder AF, Kristiansen AG, Adams JC, Merchant SN, McKenna MJ (2005) Osteoprotegerin in the inner ear may inhibit bone remodeling in the otic capsule. Laryngoscope 115(1):172–177

Pedersen U, Sogaard H, Elbrond O (1984) Histological investigation of skin biopsies in otosclerosis and osteogenesis imperfecta. Arch Otorhinolaryngol 240(1):1–6

Mann W, Jonas I, Riede UN, Beck C (1980) A contribution to the pathogenesis of otosclerosis. Arch Otorhinolaryngol 226(3):161–176

Thalmann I, Thallinger G, Thalmann R (1987) Otosclerosis: a local manifestation of a generalized connective tissue disorder? Am J Otolaryngol 8(5):308–316

Nager GT (1988) Osteogenesis imperfecta of the temporal bone and its relation to otosclerosis. Ann Otol Rhinol Laryngol 97(6 Pt 1):585–593

Ogilvie RF, Hall IS (1962) On the aetiology of otosclerosis. J Laryngol Otol 76:841–896

McKenna MJ, Kristiansen AG, Tropitzsch AS (2002) Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. Ann Otol Rhinol Laryngol 111(2):184–189

Chen W, Meyer NC, McKenna MJ, Pfister M, McBride DJ Jr, Fukushima K, Thys M, Camp GV, Smith RJ (2007) Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. Clin Genet 71(5):406–414