Hereditary spinal neurofibromatosis: A rare form of NF1?

Journal of Medical Genetics

Volumn 34, Issue 3, 1997, Pages 184-187

  Poyhonen, M ^a   Leisti, E L ^a   Kytola S ^a   Leisti, J ^a  

^a OULU UNIVERSITY HOSPITAL   (Finland)

Author keywords

Neurofibromatosis; NF; Spinal neurofibroma

Indexed keywords

DNA;

ARTICLE; CAFE AU LAIT SPOT; CLINICAL ARTICLE; CLINICAL FEATURE; DNA DETERMINATION; FAMILY STUDY; FEMALE; GENETIC LINKAGE; HUMAN; LENTIGO; MALE; NEUROFIBROMATOSIS; PRIORITY JOURNAL;

EID: 0031037210     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.3.184     Document Type: Article

References (24)

1. Riccardi VVM. Neurofibromatosis: phenotype, natural history, and pathogenesis. 2nd edition. Baltimore: Johns Hopkins University Press, 1992.
2. Huson SM, Hughes RAC. The neurofibromatoses: a pathogenetic and clinical overview. London: Chapman and Hall, 1994.
3. Pulst S-M, Riccardi VM, Fain P, Korenburg JR. Familial spinal neurofibromatosis: clinical and DNA linkage analysis. Neurology 1991;41:1923-7.
4. Weinstock A, Cohen BH, Moorjani B, Ruggerieri P, Rothner D. Spinal neurofibromatosis: NF1, NF2 or other? The NNFF International Consortium for the Molecular Biology of NF1 and NF2, 1995, abstract.
5. Ainsworth PJ, Rodenhiser DI. Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type I. Am ℑ Hum Genet 1991;49:1098-9.
6. Colman SD, Williams CA, Wallace MR. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nat Genet 1995;11:90-2.
7. Charrow J, Listernick R, Ward K. Autosomal dominant multiple cafe-au-lait spots and neuronbromatosis-1: evidence on non-linkage. Am ℑ Med Genet 1993;45:606-8.
8. Lázaro C, Gaona A, Estivill X. Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet 1994;93:351-2.
9. Láizaro C, Gaona A, Xu G, Weiss R, Estivill X. A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet 1993;92:29-30.
10. Bourn D, Strachan T. Highly polymorphic dinucleotide repeat at the NF2 gene. Hum Genet 1995;95:712.
11. Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Généthon human genetic linkage map. Nat Genet 1994;7:246339.
12. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am ℑ Hum Genet 1984;36:460-5.
13. Rodenhiser DI, Ainsworth PJ, Coulter-Mackie MB, Singh SM, Jung JH. A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage. ℑ Med Genet 1993;30:363-8.
14. Stumpf DA, Alksne JF, Annegers JF, et al. Neurofibromatosis conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988;45:575-8.
15. Mulvihill JJ, Parry DM, Sherman JL, Pikus A, Kaiser-Kupfer MI, Eldridge R. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). NIH conference. An update. Ann Intern Med 1990;113:39-52.
16. Louis DN, Ramesh V, Gusella JF. Neuropathology and molecular genetics of neurofibromatosis 2 and related tumours. Brain Pathol 1995;5:163-72.
17. Evans DGR, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q ℑ Med 1992;48:603-18.
18. Viskochil D, Carey JC. Alternate and related forms of the neurofibromatoses. In: Huson SM, Hughes RAC, eds. The neurofibromatoses: a pathogenetic and clinical overview. London: Chapman and Hall, 1994:445-74.
19. Egelhoff JC, Bates DJ, Ross JS, Rothner AD, Cohen BH. spinal MR findings in neurofibromatosis types 1 and 2. AℑNR 1991;13:1071-7.
20. Halliday AL, Sobel RA, Martuza RL. Benign spinal nerve sheath tumours: their occurrence sporadically and in neurofibromatosis types 1 and 2. ℑ Neurosurg 1991;74:24853.
21. Seppälä MT, Haltia MJJ, Sankila RJ, Jääskeläinen JE, Heiskanen O. Long-term outcome after removal of spinal neurofibroma. ℑ Neurosurg 1995;82:572-7.
22. Huson SM, Harper PS, Compston DAS. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 1988;111:1355-81.
23. von Deimling A, Krone W, Menon AG. Neurofibromatosis type 1: pathology, clinical features and molecular genetics. Brain Pathol 1995;5:153-62.
24. Shen MH, Harper PS, Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NFI). ℑ Med Genet 1996;33:217.