The neuroimaging and clinical spectrum of neurofibromatosis 2

Neurosurgery

Volumn 38, Issue 5, 1996, Pages 880-886

  Mautner, Victor Felix ^a   Lindenau, Matthias ^a   Baser, Michael E ^d   Hazim, Wasim ^b   Tatagiba, Marcos ^a   Haase, Wolfgang ^b   Samii, Madjid ^a   Wais, Roland ^c   Pulst, Stefan M ^d  

^a Allgemeines Krankhs Hamburg O ^*  (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY OF HAMBURG   (Germany)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Brain tumors; Mutation analysis; Neurofibromatosis 2; Ocular spectrum; Phenotype classification; Spinal tumors; Vestibular schwannoma

Indexed keywords

ACOUSTIC NEURINOMA; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; HEARING LOSS; HUMAN; MALE; MENINGIOMA; MULTIPLE CANCER; NEURILEMOMA; NEUROFIBROMATOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SKIN TUMOR; SPINAL CORD TUMOR; TINNITUS; TUMOR LOCALIZATION;

ADOLESCENT; ADULT; BRAIN; CENTRAL NERVOUS SYSTEM NEOPLASMS; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NEOPLASM STAGING; NEUROFIBROMATOSIS 2; NEUROLOGIC EXAMINATION; POSTOPERATIVE COMPLICATIONS; REOPERATION; SPINAL CORD; SURVIVAL RATE;

EID: 0029981434     PISSN: 0148396X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006123-199605000-00004     Document Type: Article

References (34)

1. Baser ME, Ragge NK, Riccardi VM, Janus T, Gantz B, Pulst SM: Phenotypic variability in monozygotic twins with neurofibromatosis 2. Am J Med Genet (in press).
2. Bourne D, Carter SA, Mason S, Evans DGR, Strachan T: Germline mutations in the neurofibromatosis type 2 tumor suppressor gene. Hum Mol Genet 3:813-816, 1994.
3. Bouzas EA, Parry DM, Eldridge R, Kaiser-Kupfer M: Visual impairment in patients with neurofibromatosis 2. Neurology 43: 622-623, 1993.
4. Collier E: Café-au-lait spots of the fundus in neurofibromatosis. Arch Ophthalmol 95:1990-1993, 1977.
5. Evans DGR, Huson SM, Donnai D, Neary D, Blair V, Newton V, Harris R: A clinical study of type 2 neurofibromatosis. Q J Med 304:603-618, 1992.
6. Feiling A, Ward E: A familial form of acoustic tumour. Br J Med 56:496-497, 1920.
7. Gardner WJ, Frazier CH: Bilateral acoustic neurofibromas: A clinical study and field survey of a family of five generations with bilateral deafness in thirty-eight members. Arch Neurol Psychiatr 23:266-302, 1930.
8. Good WV, Brodsky MC, Edwards MS, Hoyt WF: Bilateral retinal hamartomas in neurofibromatosis 2. Br J Ophthalmol 75:190, 1991.
9. Halliday AL, Sobel RA, Martuza RL: Benign spinal nerve sheath tumors: Their occurrence sporadically and in neurofibromatosis types 1 and 2. J Neurosurg 74:248-253, 1991.
10. Kaiser-Kupfer MI, Freidlin V, Datiles MB, Edwards PA, Sherman JL, Parry D, McCain LM, Eldridge R: The association of posterior capsular lens opacities with acoustic neuroma in patients with neurofibromatosis type 2. Arch Ophthalmol 107:541-544, 1989.
11. Kaye L, Rothner A, Beauchamp G, Meyers S, Estes M: Ocular findings associated with neurofibromatosis type 2. Ophthalmology 99:1424-1429, 1992.
12. Kluwe L, Mautner VF: A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. Hum Genet (in press).
13. Kluwe L, Pulst SM, Köppen J, Mautner VF: A 163-bp deletion at the C-terminus of schwannoma associated with variable phenotypes of neurofibromatosis type 2. Hum Genet 95:443-446, 1995.
14. Landau K, Yasargil GM: Ocular fundus in neurofibromatosis type 2. Br J Ophthalmol 77:646-649, 1993.
15. Landau K, Dossetor FM, Hoyt WF, Muci-Mendoza R: Retinal hamartoma in neurofibromatosis type 2. Arch Ophthalmol 108: 328-329, 1990.
16. Mautner VF, Tatagiba M, Guthoff R, Samii M, Pulst SM: Neurofibromatosis in the pediatric age group. Neurosurgery 33:92-96, 1993.
17. Mautner VF, Tatagiba M, Hazim W, Laute S, Guthoff R, Samii M, Pulst SM: Clinical and genetic analysis of neurofibromatosis type 2. Neurology 42[Suppl 3]:473, 1992 (abstr).
18. Merel P, Hoang-Xuan K, Sanson M, Bijisma E, Rouleau G, Laurent-Puig P, Pulst SM, Baser M, Lenoir G, Sterkers JM, Philippon J, Resche F, Maurner VF, Fischer G, Hulsebos T, Aurias A, Delattre O, Thomas G: Screening for germ-line mutations in the NF2 gene. Genes Chromosom Cancer 12:117-127, 1995.
19. National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma: December 11-13, 1991. Arch Neurol 51:201-207, 1994.
20. Neurofibromatosis Conference Statement: National Institutes of Health Consensus Development Conference. Arch Neurol 45: 575-578, 1988.
21. Parry DM, Eldridge R: Bilateral acoustic neuroma (NF2): Natural history. Presented at Consensus Development Conference on Acoustic Neuroma, Bethesda, MD, 1991.
22. Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Parronas N: Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 52:450-461, 1994.
23. Pulst SM, Riccardi VM, Ren M, Barker DF, Fain P, Korenberg JR: Familial neurofibromatosis: Clinical and DNA linkage analysis. Neurology 41:1923-1927, 1992.
24. Pulst SM, Rouleau GA, Marineau C, Fain P, Sieb JP: Familial meningioma is not allelic to neurofibromatosis 2. Neurology 43: 2096-2098, 1993.
25. Ragge NK, Baser ME, Klein J, Nechiporuk A, Sainz J, Pulst SM, Riccardi VM: Ocular abnormalities in neurofibromatosis 2. Am J Ophthalmol 120:634-641, 1995.
26. Ruttledge MH, Sarrazin J, Rangararnam S, Phelan CM, Twist E, Merel P, Delattre O, Thomas G, Nordenskjöld M, Collins VP, Dumanski JP, Rouleau GA: Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. Nature Genet 6:180-184, 1994.
27. Scoles D, Baser ME, Pulst SM: A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. Neurology (in press).
28. Shishiba T, Niimura M, Ohtsuka F, Tsura N: Multiple cutaneous neurilemomas as a skin manifestation of neurilemomatosis. J Am Acad Dermatol 10:744-745, 1984.
29. Taylor HR, West SW, Rosenthal FS, Munoz B, Newland HS, Abbey H, Emmett EA: Effect of ultraviolet radiation on cataract formation. N Engl J Med 319:1429-1433, 1988.
30. Tonsgard JH, Oesterle CS: The ophthalmologic presentation of NF-2 in childhood. J Pediatr Ophthalmol Strabismus 30:327-330, 1993.
31. Wiestler OD, von Siebenthal K, Schmitt HP, Feider, W, Kleinhues P: Distribution and immunoreactivity of cerebral micro-hamartomas in bilateral acoustic neurofibromatosis (neurofibromatosis 2). Acta Neuropathol (Berl) 79:137-143, 1989.
32. Wishart JH: Case of tumors of the skull, dura mater and brain. Edinburgh Med Surg J 18:393-397, 1822.
33. Yalcinkaya C, Sarioglu A, Boltshauser E: Neurofibromatose 2 (Bilaterale akustische Neurofibromatose). Schweiz Med Wochenschr 119:1416-1420, 1989.
34. Young DF, Eldridge R, Nager GT, Deland FH, McNew J: Hereditary bilateral acoustic neuroma (central neurofibromatosis): In Second Conference on the Clinical Delineation of Birth Defects. Birth Defects 8:73-86, 1971.