Neurofibromatosis type 1 (NF1): Diagnosis and management

Handbook of Clinical Neurology

Volumn 115, Issue , 2013, Pages 939-955

  Ferner, Rosalie E ^a   Gutmann, David H ^b  

^a GUY S HOSPITAL   (United Kingdom)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Malignant peripheral nerve sheath tumor; Neurofibroma; Neurofibromatosis 1; Neurofibromin; Optic pathway glioma; Ras

Indexed keywords

NEUROFIBROMIN;

ANIMAL; ARTICLE; DISEASE MODEL; GENETICS; HUMAN; MALIGNANT PERIPHERAL NERVE SHEATH TUMOR; MOUSE; NEUROFIBROMA; NEUROFIBROMATOSIS; OPTIC PATHWAY GLIOMA; RAS;

MALIGNANT PERIPHERAL NERVE SHEATH TUMOR; NEUROFIBROMA; NEUROFIBROMATOSIS 1; NEUROFIBROMIN; OPTIC PATHWAY GLIOMA; RAS;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; MICE; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1;

EID: 84881512205     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-52902-2.00053-9     Document Type: Chapter

References (145)

1. Afifi A.K., Dolan K.D., Van Gilder J.C., et al. Ventriculomegaly in neurofibromatosis 1: association with Chiari type 1 malformation. Neurofibromatosis 1988, 1:299-305.
2. Andersen L.B., Ballester R., Marchuk D.A., et al. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Mol Cell Biol 1993, 13:487-495.
3. Avery R.A., Liu G.T., Fisher M.J. Retinal nerve fiber layer thickness in children with optic pathway gliomas. Am J Ophthalmol 2011, 151:542-549.
4. Bajenaru M.L., Hernandez M.R., Perry A., et al. Optic nerve glioma in mice requires astrocyte Nf1 gene inactivation and Nf1 brain heterozygosity. Cancer Res 2003, 63:8573-8577.
5. Balcer L.J., Liu G.T., Heller G., et al. Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging. Am J Ophthalmol 2001, 131:442-445.
6. Bandipalliam P. Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam Cancer 2005, 4:323-333. Review.
7. Banerjee S., Byrd J.N., Gianino S.M., et al. The neurofibromatosis type 1 tumor suppressor controls cell growth by regulating signal transducer and activator of transcription-3 activity in vitro and in vivo. Cancer Res 2010, 70:1356-1366.
8. Basu T.N., Gutmann D.H., Fletcher J.A., et al. Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 1992, 356:713-715.
9. Bausch B., Borozdin W., Neumann H., et al. Clinical and genetic characteristics of patients with neurofibromatosis type 1 and phaeochromocytoma. N Engl J Med 2006, 354:2729-2731.
10. Bhola P., Banerjee S., Mukherjee J., et al. Preclinical in vivo evaluation of rapamycin in human malignant peripheral nerve sheath explant xenograft. Int J Cancer 2010, 126:563-571.
11. Bollag G., McCormick F., Clark R. Characterization of full-length neurofibromin: tubulin inhibits Ras GAP activity. EMBO J 1993, 12:1923-1927.
12. Bollag G., Clapp D.W., Shih S., et al. Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells. Nat Genet 1996, 12:144-148.
13. Brannan C.I., Perkins A.S., Vogel K.S., et al. Targeted disruption of the neurofibromatosis type 1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 1994, 8:1019-1029.
14. Bredella M.A., Torriani M., Hornicek F., et al. Value of PET in the assessment of patients with neurofibromatosis type 1. AJR Am J Roentgenol 2007, 189:928-935.
15. Brems H., Chmara M., Sahbatou M., et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 2007, 39:1120-1126.
16. Brown J.A., Gianino S.M., Gutmann D.H. Defective cAMP generation underlies the sensitivity of CNS neurons to neurofibromatosis-1 heterozygosity. J Neurosci 2010, 30:5579-5589.
17. Brown J.A., Emnett R.J., White C.R., et al. Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice. Hum Mol Genet 2010, 19:4515-4528.
18. Cai W., Kassarjian A., Bredella M.A., et al. Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. Radiology 2009, 250:665-673.
19. Carroll S.L., Ratner N. How does the Schwann cell lineage form tumors in NF1?. Glia 2008, 56:1590-1605.
20. Castle B., Baser M.E., Huson S.M., et al. Evaluation of genotype phenotype correlations in neurofibromatosis type 1. J Med Genet 2003, 40:e109.
21. Cawthon R.M., Weiss R., Xu G.F., et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990, 62:193-201.
22. Costa R.M., Silva A.J. Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1. J Child Neurol 2002, 17:622-626.
23. Crawford A.H., Bagamery N. Osseous manifestations of neurofibromatosis in childhood. J Pediatr Orthop 1986, 6:72-88.
24. Créange A., Zeller J., Rostaing-Rigattieri S., et al. Neurological complications of neurofibromatosis type 1 in adulthood. Brain 1999, 122:473-481.
25. Daginakatte G.C., Gutmann D.H. Neurofibromatosis-1 (Nf1) heterozygous brain microglia elaborate paracrine factors that promote Nf1-deficient astrocyte and glioma growth. Hum Mol Genet 2007, 16:1098-1112.
26. Daginakatte G.C., Gianino S.M., Zhao N.W., et al. Increased c-Jun-NH2-kinase signaling in neurofibromatosis-1 heterozygous microglia drives microglia activation and promotes optic glioma proliferation. Cancer Res 2008, 68:10358-10366.
27. Darken R.S., Bogitch R., Leonard J., et al. Brainstem glioma presenting as pruritus in children with neurofibromatosis. J Pediatr Hematol Oncol 2009, 31:972-976.
28. Dasgupta B., Dugan L.L., Gutmann D.H. The neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase-activating polypeptide-mediated signaling in astrocytes. J Neurosci 2003, 23:8949-8954.
29. Dasgupta B., Li W., Perry A., et al. Glioma formation in neurofibromatosis 1 reflects preferential activation of K-RAS in astrocytes. Cancer Res 2005, 65:236-245.
30. Dasgupta B., Yi Y., Chen D.Y., et al. Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors. Cancer Res 2005, 65:2755-2760.
31. DeClue J.E., Papageorge A.G., Fletcher J.A., et al. Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell 1992, 69:265-273.
32. De Raedt T., Brems H., Wolkenstein P., et al. Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 2003, 72:1288-1292.
33. Diggs-Andrews K.A., Tokuda K., Izumi Y. Dopamine deficiency underlies learning deficits in neurofibromatosis-1 mice. Ann Neurol. 2013, 73:309-315.
34. DiPaolo D.P., Zimmerman R.A., Rorke L.B., et al. Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain. Radiology 1995, 195:721-724.
35. Dombi E., Solomon J., Gillespie A.J., et al. NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. Neurology 2007, 68:643-647.
36. Donovan S., See W., Bonifas J., et al. Hyperactivation of protein kinase B and ERK have discrete effects on survival, proliferation, and cytokine expression in Nf1-deficient myeloid cells. Cancer Cell 2002, 2:507-514.
37. Evans D.G., Baser M.E., McGaughran J., et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 2002, 39:311-314.
38. Evans D.G., Huson S.M., Donnai D., et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. Med Genet. 1992, 29:847-852.
39. Fedi M., Mitchell A., Kalnins R.M., et al. Glioneuronal tumors in neurofibromatosis type 1: MRI-pathological study. J Clin Neurosci 2004, 11:745-747.
40. Ferner R.E. Neurofibromatosis 1. Eur J Hum Genet 2007, 15:131-138.
41. Ferner R.E. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 2007, 6:340-351.
42. Ferner R.E., Gutmann D. International Consensus Group Statement of the management of malignant peripheral nerve sheath tumours in Neurofibromatosis 1. Cancer Res 2002, 62:1573-1577.
43. Ferner R.E., Jackson M.J. The neurofibromatoses. The Causes of Epilepsy 2011, 183-188. Cambridge University Press, Cambridge. S.D. Shorvon, R. Guerrini, F. Andermann (Eds.).
44. Ferner R.E., Hughes R.A.C., Johnson M.R. Neurofibromatosis 1 and multiple sclerosis. J Neurol Neurosurg Psychiatry 1995, 58:582-585.
45. Ferner R.E., Hughes R.A.C., Weinman J. Intellectual impairment in neurofibromatosis 1. J Neurol Sci 1996, 138:125-133.
46. 18F-fluorodeoxyglucose (FDG) positron emission tomography. J Neurol Neurosurg Psychiatry 2000, 68:353-357.
47. Ferner R.E., Hall S.M., Hughes R.A.C., et al. Neurofibromatous neuropathy in neurofibromatosis 1. J Med Genet 2004, 41:837-841.
48. Ferner R.E., Huson S.M., Thomas N., et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007, 44:81-88.
49. Ferner R.E., Golding J.F., Smith M., et al. [18F]2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs): a long-term clinical study. Ann Oncol 2008, 19:390-394.
50. Fountain J.W., Wallace M.R., Bruce M.A., et al. Physical mapping of a translocation breakpoint in neurofibromatosis. Science 1989, 244:1085-1087.
51. Friedman J.M., Arbiser J., Epstein J.A., et al. Cardiovascular disease in neurofibromatosis 1: a report of the NF1 Cardiovascular Task Force. Genet Med 2003, 4:105-111.
52. Gill D.S., Hyman S.L., Steinberg A., et al. Age-related findings on MRI in neurofibromatosis type 1. Pediatr Radiol 2006, 36:1048-1056.
53. Guo H.F., The I., Hannan F., et al. Requirement of Drosophila NF1 for activation of adenylyl cyclase by PACAP38-like neuropeptides. Science 1997, 276:795-798.
54. Guo H.F., Tong J., Hannan F., et al. A neurofibromatosis-1-regulated pathway is required for learning in Drosophila. Nature 2000, 403:895-898.
55. Gutmann D.H., Geist R.T., Rose K., et al. Expression of two new protein isoforms of the neurofibromatosis type 1 gene product, neurofibromin, in muscle tissues. Dev Dyn 1995, 202:302-311.
56. Gutmann D.H., Zhang Y., Hirbe A. Developmental regulation of a neuron-specific neurofibromatosis 1 isoform. Ann Neurol 1999, 46:777-782.
57. Gutmann D.H., Loehr A., Zhang Y., et al. Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor suppressor results in increased astrocyte proliferation. Oncogene 1999, 18:4450-4459.
58. Hegedus B., Banerjee D., Yeh T.H., et al. Preclinical cancer therapy in a mouse model of neurofibromatosis-1 optic glioma. Cancer Res 2008, 68:1520-1528.
59. Hegedus B., Hughes F.W., Garbow J.R., et al. Optic nerve dysfunction in a mouse model of neurofibromatosis-1 optic glioma. J Neuropathol Exp Neurol 2009, 68:542-551.
60. Huson S.M., Harper P.S., Compston D.A.S. Von Recklinghausen neurofibromatosis: clinical and population study in South East Wales. Brain 1988, 111:155-181.
61. Huson S.M., Compston D.A.S., Clark P., et al. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. 1. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989, 26:704-711.
62. Huson S.M., Acosta M.T., Belzberg A., et al. Back to the Future: Proceedings from the 2010 NF Conference. Am J Med Genet 2011, 155A:307-321.
63. Hyman S.L., Gill D.S., Shores E.A., et al. T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J Neurol Neurosurg Psychiatry 2007, 78:1088-1091.
64. Jacks T., Shih T.S., Schmitt E.M., et al. Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet 1994, 7:353-361.
65. Johannessen C.M., Reczek E.E., James M.F., et al. The NF1 tumour suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci U S A 2005, 102:8573-8578.
66. Johannessen C.M., Johnson B.W., Williams S.M., et al. TORC1 is essential for NF1-associated malignancies. Curr Biol 2008, 18:56-62.
67. Johansson G., Mahller Y.Y., Collins M.H., et al. Effective in vivo targeting of the mammalian target of rapamycin pathway in malignant peripheral nerve sheath tumors. Mol Cancer Ther 2008, 7:1237-1245.
68. Johnson M.R., Ferner R.E., Bobrow M., et al. Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis. J Neurol Neurosurg Psychiatry 2000, 2008:643-646.
69. Jost S.C., Ackerman J.W., Garbow J.R., et al. Diffusion-weighted and dynamic contrast-enhanced imaging as markers of clinical behavior in children with optic pathway glioma. Pediatr Radiol 2008, 38:1293-1299.
70. Khalaf W.F., Yang F.C., Chen S., et al. K-ras is critical for modulating multiple c-kit-mediated cellular functions in wild-type and Nf1+/- mast cells. J Immunol 2007, 178:2527-2534.
71. Kimura M., Kamata Y., Matsumoto K., et al. Electron microscopical study on the tumour of von Recklinghausen's neurofibromatosis. Acta Pathol Jpn 1974, 24:79-91.
72. King A., Listernick R., Charrow J., et al. Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome. Am J Med Genet A 2003, 122A:95-99.
73. Korf B.R. Diagnostic outcome in children with multiple café au lait spots. Pediatrics 1992, 90:924-927.
74. Korf B.R. Plexiform neurofibromas. Am J Med Genet 1999, 89:31-37.
75. Korf B.R., Carrazana E., Holmes G.L. Patterns of seizures observed in association with neurofibromatosis 1. Epilepsia 1993, 34:616-620.
76. Krab L.C., de Goede-Bolder A., Aarsen F.K., et al. Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomised controlled trial. JAMA 2008, 300:287-294.
77. Lasater E.A., Bessler W.K., Mead L.E., et al. Nf1+/- mice have increased neointima formation via hyperactivation of a Gleevec sensitive molecular pathway. Hum Mol Genet 2008, 17:2336-2344.
78. Largaespada D.A., Brannan C.I., Jenkins N.A., et al. Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia. Nat Genet 1996, 12:137-143.
79. Lauchle J.O., Kim D., Le D.T., et al. Response and resistance to MEK inhibition in leukaemias initiated by hyperactive Ras. Nature 2009, 461:411-414.
80. Leonard J.R., Ferner R.E., Thomas N., et al. Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry 2007, 78:1404-1406.
81. Li W., Cui Y., Kushner S.A., et al. The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol 2005, 15:1961-1967.
82. Lin B.T., Weiss L.M., Medeiros L.J. Neurofibroma and cellular neurofibroma with atypia: a report of 14 tumours. Am J Surg Pathol 1997, 21:1443-1449.
83. Lisch K. Ueber beteiligung der augen, insbesondere das Vorkommen von irisknotchen bei der neurofi bromatose (Recklinghausen). Zeitschrift für Augenheilkunde 1937, 93:137-143.
84. Listernick R., Ferner R.E., Piersall L., et al. Late-onset optic pathway tumours in children with neurofibromatosis 1. Neurology 2004, 63:194-196.
85. Listernick R., Ferner R.E., Liu G.T., et al. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol 2007, 61:189-198.
86. Lorch M., Ferner R.E., Golding J.F., et al. Evaluation of speech and language in neurofibromatosis 1. J Neuroling 1999, 12:157-165.
87. Maertens O., Prenen H., Debiec-Rychter M., et al. Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet 2006, 15:1015-1023.
88. Marchuk D.A., Saulino A.M., Tavakkol R., et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 1991, 11:931-940.
89. Mautner V.F., Asuagbor F.A., Dombi E., et al. Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro-oncol 2008, 10:593-598.
90. McDaniel A.S., Allen J.D., Park S.J., et al. Pak1 regulates multiple c-Kit mediated Ras-MAPK gain-in-function phenotypes in Nf1+/- mast cells. Blood 2008, 112:4646-4654.
91. Miettinen M., Fetsch J.F., Sobin L.H., et al. Gastrointestinal stromal tumours in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol 2006, 30:90-96.
92. Munchhof A.M., Li F., White H.A., et al. Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells. Hum Mol Genet 2006, 15:1858-1869.
93. Morgan K.J., Rowley M.A., Wiesner S.M., et al. The GAP-related domain of neurofibromin attenuates proliferation and downregulates N- and K-Ras activation in Nf1-negative AML cells. Leuk Res 2007, 31:1107-1113.
94. National Institutes of Health Consensus Development Conference Statement Neurofibromatosis. Arch Neurol Chicago 1988, 45:575-578.
95. North K.N., Riccardi V., Samango-Sprouse C., et al. Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force. Neurology 1997, 48:1121-1127.
96. Norton K.K., Xu J., Gutmann D.H. Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle. Neurobiol Dis 1995, 2:13-21.
97. Ozerdem U. Targeting neovascular pericytes in neurofibromatosis type 1. Angiogenesis 2004, 7:307-311.
98. Paré A. Les oeuvres d'Ambroise Paré. Conseiller et premier chirurgien du roy. Divisées en vingt huict livres. Avec les figures et portraicts, tant de l'anatomie, que des instruments de chirurgie and de plusieurs monsters 1585, Gabriel Buon, Paris.
99. Pollack I.F., Shultz B., Mulvihill J.J. The management of brainstem gliomas in patients with neurofibromatosis 1. Neurology 1996, 46:1652-1660.
100. Pong W.W., Higer S.B., Gianino S.M. Reduced microglial CX3CR1 expression delays neurofibromatosis-1 glioma formation. Ann Neurol 2013, 73:303-308.
101. Poyhonen M., Leisti E.L., Kytola S., et al. Hereditary spinal neurofibromatosis: a rare form of NF1?. J Med Genet 1997, 34:184-187.
102. Rasmussen S.A., Yang Q., Friedman J.M. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet 2001, 68:1110-1118.
103. Rea D., Brandsema J.F., Armstrong D. Cerebral arteriopathy in children with neurofibromatosis type 1. Pediatrics 2009, 124:e476-e483.
104. Relles D., Baek J., Witkiewicz A., et al. Periampullary and duodenal neoplasms in neurofibromatosis type 1: two cases and an updated 20-year review of the literature yielding 76 cases. J Gastrointest Surg 2010, 14:1052-1061.
105. Richetta A., Giustini S., Recupero S.M., et al. Lisch nodules of the iris in neurofibromatosis type 1. J Eur Acad Dermatol Venereol 2004, 18:342-344.
106. Rizvi T.A., Akunuru S., de Courten-Myers G., et al. Region-specific astrogliosis in brains of mice heterozygous for mutations in the neurofibromatosis type 1 (Nf1) tumor suppressor. Brain Res 1999, 816:111-123.
107. Robertson K.A., Nalepa G., Yang F.C. Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. Lancet Oncol. 2012, 13:1218-1224.
108. Rosman N.P., Pearce J. The brain in multiple neurofibromatosis (von Recklinghausen's disease): a suggested neuropathological basis for the associated mental defect. Brain 1967, 90:829-838.
109. Rosser T.L., Vezina G., Packer R.T. Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology 2005, 64:553-555.
110. Rubin J.B., Gutmann D.H. Neurofibromatosis type 1: a model for nervous system tumour formation?. Nat Rev Cancer 2005, 5:557-564.
111. Ruggieri M., Huson S.M. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. J Neurol 2001, 56:1433-1443.
112. Sandsmark D.K., Zhang H., Hegedus B., et al. Nucleophosmin mediates mammalian target of rapamycin-dependent actin cytoskeleton dynamics and proliferation in neurofibromin-deficient astrocytes. Cancer Res 2007, 67:4790-4799.
113. Sharif S., Ferner R., Birch J.M., et al. Second primary tumours in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. J Clin Oncol 2006, 24:2570-2575.
114. Sharif S., Moran A., Huson S.M., et al. Women with neurofibromatosis 1 are at moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet 2007, 44:481-484.
115. Schindeler A., Little D.G. Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1). Bone 2008, 42:616-622.
116. Silva A.J., Frankland P.W., Marowitz Z., et al. A mouse model for the learning and memory deficits associated with neurofibromatosis type I. Nat Genet 1997, 15:281-284.
117. Simmons G.W., Pong W.W., Emnett R.J. Neurofibromatosis-1 heterozygosity increases microglia in a spatially and temporally restricted pattern relevant to mouse optic glioma formation and growth. J Neuropathol Exp Neurol. 2011, 70:51-62.
118. Stewart D.R., Sloan J.L., Yao L., et al. Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1. J Med Genet 2010, 47:525-532.
119. Tilesius von W.G. Historia pathologica singularis cutis turpitudinis Jo. Godfredi Rheinhardi viri 50 annorum 1793, S.L. Crusius, Leipzig.
120. Tischler A.S., Shih T.S., Williams B.O., et al. Characterisation of pheochromocytomas in a mouse strain with a targeted disruptive mutation of the neurofibromatosis gene Nf1. Endocr Pathol 1995, 6:323-335.
121. Tong J., Hannan F., Zhu Y., et al. Neurofibromin regulates G protein-stimulated adenylyl cyclase activity. Nat Neurosci 2002, 5:95-96.
122. Tubbs R.S., Rutledge S.L., Kosentka A., et al. Chiari I malformation and neurofibromatosis type 1. Pediatr Neurol 2004, 30:278-280.
123. Tucker T., Wolkenstein P., Revuz J., et al. Association between benign and malignant peripheral nerve sheath tumours in NF1. Neurology 2005, 65:205-211.
124. Tucker T., Friedman J.M., Friedrich R.E., et al. Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas. J Med Genet 2009, 46:81-85.
125. Upadhyaya M. Neurofibromatosis type 1: diagnosis and recent advances. Expert Opin Med Diagn 2010, 4:307-322.
126. Upadhyaya M., Spurlock G., Majounie E., et al. The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral nerve sheath tumours. (MPNSTs). Hum Mutat 2006, 27:716.
127. Upadhyaya M., Huson S.M., Davies M., et al. An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the NF1 gene (c.2970-2972 de1AAT): evidence of clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 2007, 80:140-151.
128. Verlinsky Y., Rechitsky S., Verlinsky O., et al. Preimplantation diagnosis for neurofibromatosis. Reprod Biomed Online 2002, 4:218-222.
129. Viskochil D., Buchberg A.M., Xu G., et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990, 62:187-192.
130. Vivarelli R., Grosso S., Calabrese F. Epilepsy in neurofibromatosis 1. J Child Neurol 2003, 18:338-342.
131. von Recklinghausen F.D. Über die Multiplen Fibrome der Haut und Ihre Beziehung zu den Multiplen Neuromen 1882, A Hirschwald, Berlin.
132. Wallace M.R., Marchuk D.A., Andersen L.B., et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990, 249:181-186.
133. Wang W., Nyman J.S., Moss H.E., et al. Local low-dose lovastatin delivery improves the bone-healing defect caused by Nf1 loss of function in osteoblasts. J Bone Miner Res 2010, 25:1658-1667.
134. Warbey V.S., Ferner R.E., Dunn J.T., et al. [(18)F]FDG PET/CT in the diagnosis of malignant peripheral nerve sheath tumours in neurofibromatosis type-1. Eur J Nucl Med Mol Imaging 2009, 36:751-757.
135. Warrington N.M., Gianino S.M., Jackson E., et al. Cyclic AMP suppression is sufficient to induce gliomagenesis in a mouse model of neurofibromatosis-1. Cancer Res 2010, 70:5717-5727.
136. Wertelecki W., Superneau D.W., Forehand L.W., et al. Angiomas and von Recklinghausen neurofibromatosis. Neurofibromatosis 1988, 1:137-145.
137. Widemann B.C., Salzer W.L., Arceci R.J., et al. Phase I trial and pharmacokinetic study of the farnesyltransferase inhibitor tipifarnib in children with refractory solid tumors or neurofibromatosis type I and plexiform neurofibromas. J Clin Oncol 2006, 24:507-516.
138. Wolsey D.H., Larson S.A., Creel D., et al. Can screening for optic nerve gliomas in patients with neurofibromatosis type I be performed with visual-evoked potential testing?. J AAPOS 2006, 10:307-311.
139. Xu G.F., O'Connell P., Viskochil D., et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990, 62:599-608.
140. Yang F.C., Ingram D.A., Chen S., et al. Nf1-dependent tumors require a microenvironment containing Nf1+/-- and c-kit-dependent bone marrow. Cell 2008, 135:437-448.
141. Yasunari T., Shiraki K., Hattori H., et al. Frequency of choroidal abnormalities in neurofibromatosis type 1. Lancet 2000, 356:988-992.
142. Zanca A., Zanca A. Antique illustrations on neurofibromatosis. J Dermatol 1980, 19:55-58.
143. Zeid J.L., Charrow J., Sandu M., et al. Orbital optic nerve gliomas in children with neurofibromatosis type 1. J AAPOS 2006, 10:534-539.
144. Zhu Y., Ghosh P., Charnay P., et al. Neurofibromas in NF1: Schwann cell origin and role of tumour environment. Science 2002, 296:920-922.
145. Zhu Y., Romero M.I., Ghosg P. Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain. Genes Dev 2001, 15:859-876.