Neurofibromatosis 2

Otologic Surgery

Volumn , Issue , 2010, Pages 691-701

  Slattery, William H ^a,b  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b HOUSE EAR INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 80052259630     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-1-4160-4665-3.00057-3     Document Type: Chapter

References (67)

1. Gutmann D.H., Aylsworth A., Carey J.C., et al. The diagnostic evaluation and multidisciplinary management of NF1 and NF2. JAMA 1997, 278:51-57.
2. Parry D.M., Eldridge R., Kaiser-Kupfer M.I., et al. Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 1994, 52:450-461.
3. Evans D.G., Trueman L., Wallace A., et al. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations. J Med Genet 1998, 35:450-455. [published erratum appears in J Med Genet 361(1):87, 1999].
4. Kluwe L., Mautner V.F. A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. Hum Genet 1996, 97:224-227.
5. Ruttledge M.H., Andermann A.A., Phelan C.M., et al. Type of mutation in the NF2 gene frequently determines severity of disease. Am J Hum Genet 1996, 59:331-342.
6. Baser M.E., Mautner V.F., Ragge N.K., et al. Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations. Neurology 1996, 47:1269-1277.
7. Bijlsma E.K., Merel P., Fleury P., et al. Family with neurofibromatosis type 2 and autosomal dominant hearing loss: Identification of carriers of the mutated NF2 gene. Hum Genet 1995, 96:1-5.
8. Gardner W.J., Frazier C.H. Bilateral acoustic neurofibromas: A clinical study and field survey of a family of five generations with bilateral deafness in thirty-eight members. Arch Neurol Psychiatry 1930, 23:266-302.
9. Mautner V.F., Baser M.E., Kluwe L. Phenotype variability in two families with novel splice-site and frameshift NF2 mutations. Hum Genet 1996, 98:203-206.
10. Sainio M., Strachan T., Blomstedt G., et al. Presymptomatic DNA and MRI diagnosis of neurofibromatosis 2 with mild clinical course in an extended pedigree. Neurology 1995, 45:1314-1322.
11. Welling D.B. Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas). Laryngoscope 1998, 108:178-189.
12. Wishart J.H. Case of tumors of the skull, dura mater and brain. Edinburgh Med Surg J 1822, 18:393-397.
13. Evans D.G., Huson S.M., Donnai D., et al. A genetic study of type 2 neurofibromatosis in the United Kingdom, I: Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 1992, 29:841-846.
14. Antinheimo J., Sankila R., Carpen O., et al. Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology 2000, 54:71-76.
15. Rouleau G.A., Wertelecki W., Haines J.L., et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 1987, 329:246-248.
16. Rouleau G.A., Merel P., Lutchman M., et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 1993, 363:515-521.
17. Trofatter J.A., MacCollin M.M., Rutter J.L., et al. A novel moesin-ezrin-, radixin-like gene is a candidate for the neurofibromatosis type 2 tumor suppressor. Cell 1993, 72:791-800.
18. Merel P., Haong-Xuan K., Sanson M., et al. Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas. Genes Chromosomes Cancer 1995, 13:211-216.
19. Merel P., Hoang-Xuan K., Sanson M., et al. Screening for germ-line mutations in the NF2 gene. Genes Chromosomes Cancer 1995, 12:117-127.
20. Welling D.B., Guida M., Goll F., et al. Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas. Hum Genet 1996, 98:189-193.
21. Welling D.B. Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas). Laryngoscope 1998, 108:178-189.
22. Wu C.L., Thakker N., Neary W., et al. Differential diagnosis of type 2 neurofibromatosis: Molecular discrimination of NF2 and sporadic vestibular schwannomas. J Med Genet 1998, 35:973-977.
23. Irving R.M., Harada T., Moffat D.A., et al. Somatic neurofibromatosis type 2 gene mutations and growth characteristics in vestibular schwannoma. Am J Otol 1997, 18:754-760.
24. Cushing H. Bilateral Acoustic Tumors, Generalized Neurofibromatosis and the Meningeal Endotheliomata. Tumors of the Nervous Acoustics and the Syndrome of the Cerebellopontine Angle 1963, Saunders, Philadelphia, (1917 original edition).
25. Mautner V.F., Lindenau M., Koppen J., et al. Type 2 neurofibromatosis without acoustic neuroma. Zentralbl Neurochir 1995, 56:83-87.
26. Evans D.G., Lye R., Neary W., et al. Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma. J Neurol Neurosurg Psychiatry 1999, 66:764-767.
27. Bouzas E.A., Freidlin V., Parry D.M., et al. Lens opacities in neurofibromatosis 2: Further significant correlations. Br J Ophthalmol 1993, 77:354-357.
28. Good W.V., Erodsky M.C., Edwards M.S., Hoyt W.F. Bilateral retinal hamartomas in neurofibromatosis type 2. Br J Ophthalmol 1991, 75:190.
29. Landau K., Yasargil G.M. Ocular fundus in neurofibromatosis type 2. Br J Ophthalmol 1993, 77:646-649.
30. Ragge N.K., Baser M.E., Klein J., et al. Ocular abnormalities in neurofibromatosis 2. Am J Ophthalmol 1995, 120:634-641.
31. Evans D.G., Huson S.M., Donnai D., et al. A clinical study of type 2 neurofibromatosis. Q J Med 1992, 84:603-618.
32. Lim D.J., Rubenstein A.E., Evans D.G., et al. Advances in neurofibromatosis 2 (NF2): A workshop report. J Neurogenet 2000, 14:63-106.
33. Mathies C., Samii M., Krebs S. Management of vestibular schwannomas (acoustic neuromas): Radiological features in 202 cases-their value for diagnosis and their predictive importance. Neurosurgery 1997, 40:469-481.
34. Burkey J.M., Rizer F.M., Schuring A.G., et al. Acoustic reflexes, auditory brainstem response, and MRI in the evaluation of acoustic neuromas. Laryngoscope 1996, 106:839-841.
35. Curati W.L., Graif M., Kingsley D.P., et al. MRI in acoustic neuroma: A review of 35 patients. Neuroradiology 1986, 28:208-214.
36. Duffner P.K., Cohen M.E., Seidel F.G., Shucard D.W. The significance of MRI abnormalities in children with neurofibromatosis. Neurology 1989, 39:373-378.
37. Levine S.C., Antonelli P.J., Le C.T., Haines S.J. Relative value of diagnostic tests for small acoustic neuromas. Am J Otol 1991, 12:341-346.
38. Lhullier F.M., Doyon D.L., Halimi P.M., et al. Magnetic resonance imaging of acoustic neuromas: Pitfalls and differential diagnosis. Neuroradiology 1992, 34:144-149.
39. Long S.A., Arriaga M., Nelson R.A. Acoustic neuroma volume: MRI-based calculations and clinical implications. Laryngoscope 1993, 103:1093-1096.
40. Modugno G.C., Pirodda A., Ferri G.G., et al. Small acoustic neuromas: Monitoring the growth rate by MRI. Acta Neurochir 1999, 141:1063-1067.
41. Irving R.M., Moffat D.A., Hardy D.G., et al. A molecular, clinical, and immunohistochemical study of vestibular schwannoma. Otolaryngol Head Neck Surg 1997, 116:426-430.
42. Strasnick B., Glasscock M.E., Haynes D., et al. The natural history of untreated acoustic neuromas. Laryngoscope 1994, 104:1115-1119.
43. Fucci M.J., Buchman C.A., Brackmann D.E., Berliner K.I. Acoustic tumor growth: Implications for treatment choices. Am J Otol 1999, 20:495-499.
44. Brackmann D.E., Owens R.M., Friedman R.A., et al. Prognostic factors for hearing preservation in vestibular schwannoma surgery. Am J Otol 1999, 20:495-499.
45. Briggs R.J., Brackmann D.E., Baser M.E., Hitselberger W.E. Comprehensive management of bilateral acoustic neuromas: Current perspectives. Arch Otolaryngol Head Neck Surg 1994, 120:1307-1314.
46. Doyle K.J., Nelson R.A. Bilateral acoustic neuromas (NF2). Acoustic Tumors: Diagnosis and Management 1997, Singular Publishing Group, San Diego. W.F. House, C.M. Luetje, K.J. Doyle (Eds.).
47. Evans D.G., Huson S.M., Donnai D., et al. A genetic study of type 2 neurofibromatosis in the United Kingdom, I: Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 1992, 29:841-846.
48. Gadre A.K., Kwartler J.A., Brackmann D.E., et al. Middle fossa decompression of the internal auditory canal in acoustic neuroma surgery: A therapeutic alternative. Laryngoscope 1990, 100:948-952.
49. Kesterson L., Shelton C., Dressler L., Berliner K.I. Clinical behavior of acoustic tumors: A flow cytometric analysis. Arch Otolaryngol Head Neck Surg 1993, 119:269-271.
50. Saunders J.E., Luxford W.M., Devgan K.K., Fetterman B.L. Sudden hearing loss in acoustic neuroma patients. Otolaryngol Head Heck Surg 1995, 113:23-31.
51. Slattery W.H., Brackmann D.E., Hitselberger W. Middle fossa approach for hearing preservation with acoustic neuromas. Am J Otol 1997, 18:596-601.
52. Rosenberg S.I. Natural history of acoustic neuromas. Laryngoscope 2000, 110:497-508.
53. Lalwani A.K., Abaza M.M., Makariou E.V., Armstrong M. Audiologic presentation of vestibular schwannoma in neurofibromatosis type 2. Am J Otol 1998, 19:352-357.
54. Masuda A, Fischer LM, Oppenheimer ML, et al. 2004.
55. Bouzas E.A., Parry D.M., Eldridge R., Kaiser-Kupfer M.I. Visual impairment in patients with neurofibromatosis 2. Neurology 1993, 43:622-623.
56. Pallini R., Tancredi A., Cassalbore P., et al. Neurofibromatosis type 2: Growth stimulation of mixed acoustic schwannoma by concurrent adjacent meningioma: Possible role of growth factors. Case report. J Neurosurug 1998, 89:149-154.
57. Antinheimo J., Haappasalo H., Haltia M., et al. Proliferation potential and histological features in neurofibromatosis 2-associated and sporadic meningiomas. J Neurosurg 1997, 87:610-614.
58. Patronas N.J., Courcoutsakis N., Bromley C.M., et al. Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology 2001, 218:434-442.
59. Gillepsie J.E. Imaging in neurofibromatosis 2: Screening using magnetic resonance imaging. Ear Nose Throat J 1999, 78:102-103.
60. Delleman J.W., De Jong J.G., Bleeker G.M. Meningiomas in five members of a family over two generations, in one member simultaneously with acoustic neurinomas. Neurology 1978, 28:567-570.
61. King A., Gutmann D.H. The question of familial meningiomas and schwannomas: NF2B or not to be?. Neurology 2000, 54:4-5.
62. Wiebe S., Munoz D.G., Smith S., Lee D.H. Meningioangiomatosis: A comprehensive analysis of clinical and laboratory features. Brain 1999, 122:709-726.
63. Slattery W.H., Brackmann D.E. Hearing preservation and restoration in CPA tumor surgery. Neurosurg Q 1997, 7:169-182.
64. Doyle K.J., Shelton C. Hearing preservation in bilateral acoustic neuroma surgery. Am J Otol 1993, 14:562-565.
65. Slattery W.H., Brackmann D.E., Hitzelburger W. Hearing Preservation in NF-2. Am Journal Otology 1998, 19:638-643.
66. Slattery W.H., Fischer L.M., Hitzelburger W., et al. Hearing Preservation Surgery for NF-2 related Vestibular Schwannomas in Pediatric Patients. J Neurosurg 2007, 106:255-260.
67. Baser M.E., Ragge N.K., Riccardi V.M., et al. Phenotype variability in monozygotic twins with neurofibromatosis 2. Am J Med Genet 1996, 64:563-567.