Hostname: page-component-8448b6f56d-sxzjt Total loading time: 0 Render date: 2024-04-18T17:57:05.863Z Has data issue: false hasContentIssue false
  • English
  • Français

A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis

Published online by Cambridge University Press:  29 June 2007

W. J. Neary ,
V. E. Newton ,
M. Vidler ,
R. T. Ramsden ,
R. H. Lye ,
J. E. M. Dutton ,
P. L. Richardson ,
R. Harris ,
D. G. Evans  and
T. Strachan
W. J. Neary*
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology, School of Education, University of Manchester
V. E. Newton
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology, School of Education, University of Manchester
M. Vidler
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology, School of Education, University of Manchester
R. T. Ramsden
Affiliation:
Department of Otolaryngology, Manchester Royal Infirmary.
R. H. Lye
Affiliation:
Department of Neurosurgery, Manchester Royal Infirmary.
J. E. M. Dutton
Affiliation:
Department of Neurosurgery, Manchester Royal Infirmary.
P. L. Richardson
Affiliation:
Department of Neurosurgery, Manchester Royal Infirmary.
R. Harris
Affiliation:
The Department of Medical Genetics, St. Mary's Hospital, manchester.
D. G. Evans
Affiliation:
The Department of Medical Genetics, St. Mary's Hospital, manchester.
T. Strachan
Affiliation:
The Department of Medical Genetics, St. Mary's Hospital, manchester.
*
W. J. Neary, Centre for Audiology, Education of the Deaf and Speech Pathology, School of Education, University of Manchester, Oxford Road, Manchester M13 9PL.
Get access Rights & Permissions [Opens in a new window]

Abstract

The neurofibromatoses consist of at least two distinct autosomal dominant hereditary disorders. Neurofibromatosis type 1 (NF1) is due to a lesion on chromosome 17q. Neurofibromatosis type 2 (NF2) is caused by a defect on chromosome 22q. The hallmark of NF2 is the development, in the second and third decades, of bilateral acoustic neuromas. NF1 is characterized by the appearance of cafe-au-lait spots and neurofibromas in addition to iris hamartomas, or Lisch nodules, of the eye, during the first and second decades.

Ten families were personally studied. A total of 16 members were found to be affected with NF2. A protocol for evaluation and review of subjects and relatives of NF2 families is proposed. A team approach, coordinating the expertise of multiple specialties is recommended.

Keywords

NeuromaacousticbilateralNeurofibromatosiscentralNF-2AudiologyGenetics
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 107 , Issue 1 , January 1993 , pp. 6 - 11
Copyright
Copyright © JLO (1984) Limited 1993

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Anderson, H., Barr, B., Wedenberg, E. (1970) The early detection of acoustic tumours by the stapedius reflex test. In Sensorineural hearing loss. A Ciba Foundation Symposium (Wolstenholme, G. E. W. and Knight, J., eds.) Churchill Livingstone, London, p 275–295.CrossRefGoogle Scholar
Barker, D., Wright, E., Nguyen, K., Cannon, L., Fain, P., Goldgar, D., Bishop, D. T., Carey, J., Baty, B., Kivlin, J., Willard, H., Waye, J. S., Greig, G., Leinwand, L., Nakamura, Y., O'Connell, P., Leppert, M., Lalouel, J. M., White, R., Skolnick, M. (1987) Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science, 236: 1100–1102.CrossRefGoogle Scholar
Bess, F. H., Forrest Josey, A., Glasscock, M. E., Wilson, L.K. (1984) Audiologic manifestations in bilateral acoustic tumours (von Recklinghausen's disease). Journal of Speech and Hearing Disorders, 49: 177–182.Google Scholar
Boothroyd, A. (1968) Developments in speech audiometry. Sound, 2: 3.Google Scholar
Chiveralls, K. (1977) A further examination of the use of the stapedius reflex in the diagnosis of acoustic neuroma. Audiology, 16: 331–337.CrossRefGoogle ScholarPubMed
Chiveralls, K., FitzSimons, R., Beck, G. B., Kernohan, H. (1976) The diagnostic significance of the stapedius reflex. British Journal of Audiology, 10: 122.CrossRefGoogle Scholar
Crowe, F. W., Schull, W. J., Neel, J. V. (1956) In: A clinical, pathological and genetic study of multiple neurofibromatosis, Charles C. Thomas, Springfield, Illinois (a) 146, (b) 147–168, (c) 15.Google Scholar
Eldridge, R. (1981) Central neurofibromatosis with bilateral acoustic neuroma. Advances in Neurology, 29: 57–65.Google ScholarPubMed
Eldridge, R., Pikus, A., Kanter, W.Martuza, R. (1982) Evoked potentials. New England Journal of Medicine, 307: 1148–1149.Google Scholar
Eldridge, R. (1987) Bilateral acoustic neurofibromatosis: Genetic basis, natural history and counselling. In Program and abstracts of the National Institutes of Health Consensus Development Conference on Neurofibromatosis. Bethesda, Md., p 25–31.Google Scholar
Gardner, W. J., Frazier, C. H. (1930) Bilateral acoustic neurofibromas. A clinical study and field survey of a family of five generations with bilateral deafness in 38 members. Archives of Neurology and Psychiatry, 23: 266–302.Google Scholar
Glasscock, M. E., Jackson, C. G., Tosey, A. F., Dickinns, J. R. E., Wiet, R. J. (1979) Brainstem evoked response audiometry in a clinical practice. Laryngoscope, 7: 1021–1039.Google Scholar
Hart, R. G., Gardner, D. P., Howieson, J. (1983) Acoustic tumours: atypical features and recent diagnostic tests. Neurology, 33: 211–221.Google Scholar
Hirsch, A., Anderson, H. (1980a) Audiologic test results in 96 patients with tumours affecting the VIIIth nerve. A clinical study with emphasis on the early audiological diagnosis. Acta Oto-Laryngologica, Supplementum, 369: 1–26.Google Scholar
Hirsch Anderson, H. (1980b) Elevated stapedius reflex threshold and pathologic reflex decay. Clinical occurrence and significance. Acta Oto-Laryngologica, Supplementum, 368: 1–28.Google Scholar
Huson, S. M., Harper, P. S., Compston, D. A. S. (1988) Von Recklinghausen neurofibromatosis: a clinical and population study in South East Wales. Brain, III: 1355–1381.CrossRefGoogle Scholar
Huson, S. M., Compston, D. A. S., Harper, P. S. (1989) A genetic study of von Recklinghausen neurofibromatosis (NF1) in South East Wales. I: Prevalence, fitness, mutation rate and effect of parental transmission on severity. Journal of Medical Genetics, 26: 704–711.Google Scholar
Johnson, E. W. (1979) Results of auditory tests in acoustic tumour patients. In Acoustic Tumours, Vol. 1, Diagnosis, Chapter 9, (House, W. F., Luetje, C. M., eds.) University Park Press, Baltimore, p 209–224.Google Scholar
Kanter, W. R., Eldridge, R., Fabricant, R., Allen, J. C.Koerber, T. (1980) Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology, 30: 851–859.Google Scholar
King, T. T.Gibson, W. P. R., Morrison, A. W. (1976) Tumours of the VIIIth cranial nerve. British Journal of Hospital Medicine, 16: 259–272.Google Scholar
Martuza, R. L., Eldridge, R. (1988) Neurofibromatosis Type 2 (bilateral acoustic neurofibromatosis). New England Journal of Medicine, 318: 684–688.Google Scholar
National Institutes of Health Consensus Development Conference. Neurofibromatosis Conference Statement. (1988) Archives of Neurology 45: 575–578.Google Scholar
Pearson-Webb, M. A., Kaiser-Kupfer, M. I., Eldridge, R. (1986) Eye findings in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacities and cataracts, but absence of Lisch nodules. New England Journal of Medicine, 315: 1553–1554.Google Scholar
Riccardi, V. M., Lewis, R. A. (1988) Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants. American Journal of Human Genetics, 42: 284–289.Google Scholar
Rosenberg, P. E. (1958) Rapid clinical measurement of tone decay. Paper presented at the American Speech and Hearing Association Convention, New York.Google Scholar
Rouleau, G. A., Wertelecki, W., Haines, J. L., Hobbs, W. J., Trofatter, J. A., Seizinger, B. R., Martuza, R. L., Superneau, D. W.Conneally, P. M., Gusella, J. F. (1987) Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature, 329: 246–248.CrossRefGoogle ScholarPubMed
Seizinger, B. R., Martuza, R. L., Gusella, J. F. (1986) Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature, 322: 644–647.Google Scholar
Seizinger, B. R., Rouleau, G. A., Ozelius, L. J., Lane, A. H., Faryniarz, A. G., Chao, M. V., Huson, S., Korf, B. R., Parry, D. M., Pericak-Vance, M. A., Collins, F. S., Hobbs, W. J., Falcone, B. G., Iannazzi, J. A., Roy, J. C.St. George-Hyslop, P. H., Tanzi, R. E., Bothwell, M. A., Upadhyaya, M., Harper, P.Goldstein, A. E., Hoover, D. L., Bader, J. L., Spence, M. A., Mulvihill, J. J., Aylsworth, A. S., Vance, J. M., Rossenwasser, G. O. D., Gaskell, P. C.Roses, A. D., Martuza, R. L., Breakefield, X. O., Gusella, J. F. (1987) Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell, 49: 589–594.Google Scholar
Seizinger, B. R., Rouleau, G., Ozelius, L. J., Lane, A. H., St. George-Hyslop, P., Huson, S., Gusella, J. F.Martuza, R. L. (1987) Common pathogenic mechanism for three tumour types in bilateral acoustic neurofibromatosis. Science, 236: 317–319.Google Scholar
Stack, J. P., Ramsden, R. T., Antoun, N. M., Lye, R. H., Isherwood, I., Jenkins, J. P. R. (1988) Magnetic resonance imaging of acoustic neuromas: the role of gadolinium-DTPA. British Journal of Radiology, 61: 800–805.Google Scholar
Turner, R. G., Shepard, N. T.Frazer, G. J. (1984) Clinical performance of audiological and related diagnostic tests. Ear and Hearing, 5: 187–194.Google Scholar
Young, D. F., Eldridge, R., Nager, G. T.Deland, F. H., McNew, J. (1971) Hereditary bilateral acoustic neuroma (central neurofibromatosis). Birth defects: Original Article Series, VII, No. 4, 73–86.Google Scholar
Wishart, J. H. (1822) Case of tumours in the skull, dura mater and brain. Edinburgh Medical and Surgical Journal, 18: 393–397.Google Scholar