Abstract
This chapter is an introduction to the world of Recklinology, accounting for some of the historical persons and places, as well as selected clinical and basic research achievements. There is also a brief consideration of what the future portends, with particular focus on the NF1 gene being especially important in general metabolism as a “purine nucleotide balance” gene.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
(1988) NIH Consensus Development Conference Statement: Neurofibromatosis. Arch Neurol 45:575–578
Acosta MT, Gioia GA, Silva AJ (2006) Neurofibromatosis type 1: new insights into neurocognitive issues. Curr Neurol Neurosci Rep 6:136–143
Andea AA, Bouwman D, Wallis T, Visscher DW (2004) Correlation of tumor volume and surface area with lymph node status in patients with multifocal/multicentric breast carcinoma. Cancer 100:20–27
Badache A, Muja N, De Vries GH (1998) Expression of Kit in neurofibromin-deficient human Schwann cells: role in Schwann cell hyperplasia associated with type 1 neurofibromatosis. Oncogene 17:795–800
Bajenaru ML, Zhu Y, Hedrick NM, Donahoe J, Parada LF, Gutmann DH (2002) Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. Mol Cell Biol 22:5100–5113
Banerjee S, Crouse NR, Emnett RJ, Gianino SM, Gutmann DH (2011) Neurofibromatosis-1 regulates mTOR-mediated astrocyte growth and glioma formation in a TSC/Rheb-independent manner. Proc Natl Acad Sci USA 108:15996–16001
Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, Carey JBB, Kivlin J, Willard H, Waye JS, Greig G, Leinwand L, Nakamura Y, O’Connell P, Leppert M, Lalouel JM, White R, Skolnick M (1987) Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236:1100–1102
Barton B, North K (2007) The self-concept of children and adolescents with neurofibromatosis type 1. Child Care Health Dev 33:401–408
Bland ML, Birnbaum MJ (2011) Cell biology. ADaPting to energetic stress. Science 332:1387–1388
Borberg A (1951) Clinical and genetic investigations into tuberous sclerosis and Recklinghausen’s neurofibromatosis. Acta Psychiatr Neurol Scand 71:1–239
Bottillo I, Torrente I, Lanari V, Pinna V, Giustini S, Divona L, De LA, Dallapiccola B (2010) Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion. Am J Med Genet A 152A:1467–1473
Brannan CI, Perkins AS, Vogel KS, Ratner N, Nordlund ML, Reid SW, Buchberg AM, Jenkins NA, Parada LF, Copeland NG (1994) Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev 8:1019–1029
Brasfield RD, Das Gupta TK (1972) Von Recklinghausen’s disease: a clinicopathological study. Ann Surg 175:86–104
Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E (2007) Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 39:1120–1126
Brown JA, Emnett RJ, White CR, Yuede CM, Conyers SB, O’Malley KL, Wozniak DF, Gutmann DH (2010a) Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice. Hum Mol Genet 19:4515–4528
Brown JA, Gianino SM, Gutmann DH (2010b) Defective cAMP generation underlies the sensitivity of CNS neurons to neurofibromatosis-1 heterozygosity. J Neurosci 30:5579–5589
Brown JA, Xu J, Diggs-Andrews KA, Wozniak DF, Mach RH, Gutmann DH (2011) PET imaging for attention deficit preclinical drug testing in neurofibromatosis-1 mice. Exp Neurol 232:333–338
Brown JA, Diggs-Andrews KA, Gianino SM, Gutmann DH (2012) Neurofibromatosis-1 heterozygosity impairs CNS neuronal morphology in a cAMP/PKA/ROCK-dependent manner. Mol Cell Neurosci 49:13–22
Campbell CE, Gibbs PD, Schmale MC (2001) Progression of infection and tumor development in damselfish. Mar Biotechnol 3(Suppl 1):S107–S104
Canfield PJ (1967) A light microscopic study of bovine peripheral nerve sheath tumors. Vet Pathol 15:283–291
Canfield PJ, Doughty FR (1980) A study of virus-like particles present in bovine nerve sheath tumors. Aust Vet J 56:257–261
Chai G, Liu N, Ma J, Li H, Oblinger JL, Prahalad AK, Gong M, Chang LS, Wallace M, Muir D, Guha A, Phipps RJ, Hock JM, Yu X (2010) MicroRNA-10b regulates tumorigenesis in neurofibromatosis type 1. Cancer Sci 101:1997–2004
Coleman SL (1987) Neurofibromatosis and its relationship to school performance problems, learning disabilities, hyperactivity and intelligence. Master’s degree thesis, Department of Psychology, University of Houston, Houston, TX
Crowe FW, Schull WJ, Neel JV (1956) A clinical, pathological, and genetic study of multiple neurofibromatosis. Charles C. Thomas, Springfield, IL
Cutting LE, Koth CW, Burnette CP, Abrams MT, Kaufmann WE, Denckla MB (2000a) Relationship of cognitive functioning, whole brain volumes, and T2-weighted hyperintensities in neurofibromatosis-1. J Child Neurol 15:157–160
Cutting LE, Koth CW, Denckla MB (2000b) How children with neurofibromatosis type 1 differ from “typical” learning disabled clinic attenders: nonverbal learning disabilities revisited. Dev Neuropsychol 17:29–47
Das Gupta TK, Brasfield RD (1971) Von Recklinghausen’s disease. Cancer 21:174–183
Dasgupta B, Dugan LL, Gutmann DH (2003) The neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase-activating polypeptide-mediated signaling in astrocytes. J Neurosci 23:8949–8954
Daston MM, Ratner N (1992) Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development. Dev Dyn 195:216–226
Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N (1992) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 8:415–428
Dechant R, Peter M (2008) Nutrient signals driving cell growth. Curr Opin Cell Biol 20:678–687
DeClue JE, Papageorge AG, Fletcher JA, Diehl SR, Ratner N, Vass WC, Lowy DR (1992) Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. Cell 69:265–273
Descheemaeker MJ, Ghesquiere P, Symons H, Fryns JP, Legius E (2005) Behavioral, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children. J Intell Disabil Res 49:33–46
Dombi E, Solomon J, Gillespie AJ, Fox E, Balis FM, Patronas N, Korf BR, Babovic-Vuksanovic D, Packer RJ, Belasco J, Goldman S, Jakacki R, Kieran M, Steinberg SM, Widemann BC (2007) NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. Neurology 68:643–647
Doughty FR (1977) Incidence of neurofibromas in cattle in abattoirs in New South Wales. Aust Vet J 53:280–281
Fieber LA, Schmale MC (1994) Differences in a K current in Schwann cells from normal and neurofibromatosis-infected damselfish. Glia 11:64–72
Galimov EM (2004) Phenomenon of life: between equilibrium and non-linearity. Orig Life Evol Biosph 34:599–613
Galimov EM (2009) Concept of sustained ordering and an ATP-related mechanism of life’s origin. Int J Mol Sci 10:2019–2030
Grand RJA, Lecane PS, Roberts S, Grant ML, Lane DP, Young LS, Dawson CW, Gallimore PH (1993) Overexpression of wild-type p53 and c-Myc in human fetal cells transformed with adenovirus early region 1. Virology 193:579–591
Guo HF, Tong J, Hannan F, Luo L, Zhong Y (2000) A neurofibromatosis-1-regulated pathway is required for learning in Drosophila. Nature 403:895–898
Gutmann DH (2011) Molecular genetics of optic glioma—lessons learned from neurofibromatosis-1 genetically engineered mice. Expert Rev Ophthalmol 6:363–369
Gutmann DH, Andersen LB, Cole JL, Swaroop M, Collins FS (1993a) An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle. Hum Mol Genet 2:989–992
Gutmann DH, Tennekoon GI, Cole JL, Collins FS, Rutkowski JL (1993b) Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation. J Neurosci Res 36:216–223
Gutmann DH, Cole JL, Collins FS (1995a) Expression of the neurofibromatosis type 1 (NF1) gene during mouse embryonic development. Prog Brain Res 150:327–335
Gutmann DH, Geist RT, Rose K, Wright DE (1995b) Expression of two new protein isoforms of the neurofibromatosis type 1 gene product, neurofibromin, in muscle tissues. Dev Dyn 202:302–311
Gutmann DH, Donahoe J, Brown T, James CD, Perry A (2000) Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas. Neuropathol Appl Neurobiol 26:361–367
Hannan F, Ho I, Tong JJ, Zhu Y, Nurnberg P, Zhong Y (2006) Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. Hum Mol Genet 15:1087–1098
Harkin JC, Reed RJ (1969) Tumors of the peripheral nervous system. In: Atlas of tumor pathology, Second series. Armed Forces Institute of Pathology, Washington, DC, pp 67–106
Hattori S, Maekawa M, Nakamura S (1992) Identification of neurofibromatosis type I gene product as an insoluble GTPase-activating protein toward ras p21. Oncogene 7:481–485
Hegedus B, Dasgupta B, Shin JE, Emnett RJ, Hart-Mahon EK, Elghazi L, Bernal-Mizrachi E, Gutmann DH (2007) Neurofibromatosis-1 regulates neuronal and glial cell differentiation from neuroglial progenitors in vivo by both cAMP- and Ras-dependent mechanisms. Cell Stem Cell 1:443–457
Hertz L, Peng L, Dienel GA (2007) Energy metabolism in astrocytes: high rate of oxidative metabolism and spatiotemporal dependence on glycolysis/glycogenolysis. J Cereb Blood Flow Metab 27:219–249
Ho IS, Hannan F, Guo HF, Hakker I, Zhong Y (2007) Distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation. J Neurosci 27:6852–6857
Huson S, Hughes RAC (1994) The neurofibromatoses. Chapman & Hall, London
Hyman SL, Gill DS, Shores EA, Steinberg A, Joy P, Gibikote SV, North KN (2003) Natural history of the cognitive deficits and their relationship to MRI T2-hyperintensities in NF1. Neurology 60:1139–1145
Hyman SL, Shores A, North KN (2005) The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology 65:1037–1044
Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA (1994) Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet 7:353–361
Jaremko JL, Macmahon PJ, Torriani M, Merker VL, Mautner VF, Plotkin SR, Bredella MA (2012) Whole-body MRI in neurofibromatosis: incidental findings and prevalence of scoliosis. Skeletal Radiol 41:917–923
Johnson BA, Macwilliams B, Carey JC, Viskochil DH, D’Astous JL, Stevenson DA (2011) Lower extremity strength and hopping and jumping ground reaction forces in children with neurofibromatosis type 1. Hum Mov Sci 31:247–254
Kaplan L, Foster R, Shen Y, Parry DM, McMaster ML, O’Leary MC, Gusella JF (2010) Monozygotic twins discordant for neurofibromatosis 1. Am J Med Genet A 152A:601–606
Kim HA, DeClue JE, Ratner N (1997) cAMP-dependent protein kinase A is required for Schwann cell growth: interactions between the cAMP and neuregulin/tyrosine kinase pathways. J Neurosci Res 49:236–247
Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner V-F (2004) Screening 500 unselected neurofibromatosis 1 patients for deletions of the Nf1 gene. Hum Mutat 23:111–116
Kossler N, Stricker S, Rodelsperger C, Robinson PN, Kim J, Dietrich C, Osswald M, Kuhnisch J, Stevenson DA, Braun T, Mundlos S, Kolanczyk M (2011) Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet 20:2697–27709
Krab LC, Aarsen FK, de Goede-Bolder A, Catsman-Berrevoets CE, Arts WF, Moll HA, Elgersma Y (2008a) Impact of neurofibromatosis type 1 on school performance. J Child Neurol 23:1002–1010
Krab LC, de Goede-Bolder A, Aarsen FK, Pluijm SM, Bouman MJ, van der Geest JN, Lequin M, Catsman CE, Arts WF, Kushner SA, Silva AJ, De Zeeuw CI, Moll HA, Elgersma Y (2008b) Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial. JAMA 300:287–294
Krab LC, Goorden SM, Elgersma Y (2008c) Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases. Trends Genet 24:498–510
Krone W, Zorlein S, Mao P (1981) Cell culture studies on neurofibromatosis (von Recklinghausen). 1. Comparative growth experiments with fibroblasts at high and low concentrations of fetal calf serum. Hum Genet 58:188–193
Lacson JM, Riccardi VM, Morizot DC (1988) Possible genetic etiology of damselfish neurofibromatosis (DNF): generic differentiation of bicolor damselfish (Pomacentrus partitus) populations. Neurofibromatosis 1:253–259
Lacson JM, Riccardi VM, Calhoun SW, Morizot DC (1989) Hurricanes and genetic drift in populations of bicolor damselfish. Mar Biol 103:445–451
Le LQ, Liu C, Shipman T, Chen Z, Suter U, Parada LF (2011) Susceptible stages in Schwann cells for NF1-associated plexiform neurofibroma development. Cancer Res 71:4686–4695
Lebioda A, Zyromska A, Makarewicz R, Furtak J (2008) Tumour surface area as a prognostic factor in primary and recurrent glioblastoma irradiated with 192Ir implantation. Rep Pract Oncol Radiother 13:15–22
Lewis RA, Riccardi VM, Gerson LP, Whitford R, Axelson KA (1984) Von Recklinghausen neurofibromatosis: II. Incidence of optic nerve gliomata. Ophthalmology 91:929–935
Li W, Cui Y, Kushner SA, Brown RA, Jentsch JD, Frankland PW, Cannon TD, Silva AJ (2005) The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol 15:1961–1967
Li Y, Li Y, McKay RM, Riethmacher D, Parada LF (2012) Neurofibromin modulates adult hippocampal neurogenesis and behavioral effects of antidepressants. J Neurosci 32:3529–3539
Listernick R, Ferner RE, Piersall L, Sharif S, Gutmann DH, Charrow J (2004) Late-onset optic pathway tumors in children with neurofibromatosis 1. Neurology 63:1944–1946
Lyons JB, Staunton H (1992) Neurofibromatosis: why not Smith’s disease? J Hist Neurosci 1:65–73
Ma TC, Mihm MJ, Bauer JA, Hoyt KR (2007) Bioenergetic and oxidative effects of free 3-nitrotyrosine in culture: selective vulnerability of dopaminergic neurons and increased sensitivity of non-dopaminergic neurons to dopamine oxidation. J Neurochem 103:131–144
MacCollin M, Mohney T, Trofatter J, Wertelecki W, Ramesh V, Gusella J (1993) DNA diagnosis of neurofibromatosis 2: altered coding sequence of the merlin tumor suppressor in an extended pedigree. JAMA 270:2316–2320
Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S, Speleman F, Legius E, Messiaen L (2007) Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet 81:243–251
Masson P (1970) Human tumors: histology, diagnosis, technique. Wayne State University Press, Detroit
Mautner VF, Hartmann M, Kluwe L, Friedrich RE, Funsterer C (2006) MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology 48:160–165
Mautner VF, Asuagbor FA, Dombi E, Funsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM (2008) Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol 10:593–598
Mautner VF, Kluwe L, Friedrich RE, Roehl AC, Bammert S, Hogel J, Spori H, Cooper DN, Kehrer-Sawatzki H (2010) Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet 47:623–630
Messiaen LM, Collens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, De Paepe A (2000) Exhaustive mutation analysis of the Nf1 gene allows identification of 95 % of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15:541–555
Messiaen L et al (2009) Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA 302:2111–2118
Messiaen L, Vogt J, Bengesser K, Fu C, Mikhail F, Serra E, Garcia-Linares C, Cooper DN, Lazaro C, Kehrer-Sawatzki H (2010) Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat 32(2):213–9
Mulvihill JJ (1988) Neurofibromatosis: history, nomenclature, and natural history. Neurofibromatosis 1:124–131
Mulvihill JJ, Sorensen SA, Nielsen A (1983) Four decades of neurofibromatosis (NF) Recklinghausen disease in Denmark: incidence of cancers. Am J Hum Genet 35:68A
North K (1993) Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic. J Child Neurol 8:395–402
North K, Joy P, Yuille D, Cocks N, Mobbs E, Hutchins P, McHugh K, De Silva M (1994) Specific learning disability in children with neurofibromatosis type 1: significance of MRI abnormalities. Neurology 44:878–883
North KN, Riccardi VM, Samango-Sprouse C, Ferner RE, Legius E, Ratner N, Moore BD III, Denckla MB (1997) Cognitive function and academic performance in neurofibromatosis 1: consensus statement from the NF1 Cognitive Disorders Task Force. Neurology 48:1121–1127
North K, Hyman S, Barton B (2002) Cognitive deficits in neurofibromatosis 1. J Child Neurol 17:605–612
Omi K, Kitano Y, Agawa H, Kadota K (1994) An immunohistochemical study of peripheral neuroblastoma, ganglioneuroblastoma, anaplastic ganglioglioma, schwannoma and neurofibroma in cattle. J Comp Pathol 111:1–14
Ozonoff S (1999) Cognitive impairment in neurofibromatosis type 1. Am J Med Genet 89:45–52
Park CS, Zhong L, Tang SJ (2009) Aberrant expression of synaptic plasticity-related genes in the NF1+/− mouse hippocampus. J Neurosci Res 87:3107–3119
Pasmant E et al (2010) NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat 31:E1506–E1518
Payne JM, Moharir MD, Webster R, North KN (2010) Brain structure and function in neurofibromatosis type 1: current concepts and future directions. J Neurol Neurosurg Psychiatry 81:304–309
Peltonen J, Marttala T, Vihersaari T, Renvall S, Penttinen R (1981) Collagen synthesis in cells cultured from v. Recklinghausen neurofibromatosis. Acta Neuropathol 55:183–187
Pericak-Vance MA, Yamaoka LH, Vance JM et al (1987) Genetic linkage studies on chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF-1). Genomics 1:349–352
Ratner N, Bunge RP, Glaser L (1986) Schwann cell proliferation in vitro: an overview. Ann NY Acad Sci 486:170–181
Reynolds RM, Browning GG, Nawroz I, Campbell IW (2003) Von Recklinghausen’s neurofibromatosis: neurofibromatosis type 1. Lancet 361:1552–1554
Ribeiro MJ, Violante IR, Bernardino I, Ramos F, Saraiva J, Reviriego P, Upadhyaya M, Silva ED, Castelo-Branco M (2012) Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1. Invest Ophthalmol Vis Sci 53:287–293
Riccardi VM (1981a) Cutaneous manifestations of neurofibromatosis cellular interaction, pigmentation, and mast cells. Birth Defects 17:129–145
Riccardi VM (1981b) Von Recklinghausen neurofibromatosis. N Engl J Med 305:1617–1627
Riccardi VM (1984) Neurofibromatosis as a model for investigating hereditary vs. environmental factors in learning disabilities. In: Fukuyama Y (ed) The developing brain and its disorders. University of Tokyo Press, Tokyo, pp 171–181
Riccardi VM (1987) Mast cell stabilization to decrease neurofibroma growth: preliminary experience with ketotifen. Arch Dermatol 123:1011–1016
Riccardi VM (1990a) Mast cell stabilization to minimize the symptoms of enlarging neurofibromas. Am J Hum Genet 47:A74
Riccardi VM (1990b) The potential role of trauma and mast cells in the pathogenesis of neurofibromas. In: Ishibashi Y, Hori Y (eds) Tuberous sclerosis and neurofibromatosis: epidemiology, pathophysiology, biology and management. Elsevier, Amsterdam, pp 167–190
Riccardi VM (1992) Neurofibromatosis: phenotype, natural history and pathogenesis. Johns Hopkins University Press, Baltimore
Riccardi VM (1993) A controlled multiphase trial of ketotifen to minimize neurofibroma-associated pain and itching. Arch Dermatol 129:577–581
Riccardi VM (2010) New approaches to von Recklinghausen disease: nonclonal origin of neurofibromas, S100 proteins and purine nucleotide balance. Jpn J Recklinghausen Dis 1:8–10
Riccardi VM, Eichner JE (1986) Neurofibromatosis: phenotype, natural history, and pathogenesis. Johns Hopkins University Press, Baltimore
Riccardi VM, Maragos VA (1980) The pathophysiology of neurofibromatosis. I. Resistance in vitro to 3-nitrotyrosine as an expression of the mutation. In Vitro 16:706–714
Riccardi VM, Mulvihill JJ (1981) Advances in neurology, vol 29. Neurofibromatosis (von Recklinghausen disease): genetics, cell biology and biochemistry. Raven, New York
Rodriguez FJ, Perry A, Gutmann DH, O’Neill BP, Leonard J, Bryant S, Giannini C (2008) Gliomas in neurofibromatosis type 1: a clinicopathologic study of 100 patients. J Neuropathol Exp Neurol 67:240–249
Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, Martuza RL, Superneau DW, Conneally PM, Gusella JF (1987) Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 329:246–248
Ruggieri M, Huson SM (2001) The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 56:1433–1443
Russell M, Bradshaw-Rouse J, Markwardt D, Heideman W (1993) Changes in gene expression in the Ras/adenylate cyclase system of Saccharomyces cerevisiae: correlation with cAMP levels and growth arrest. Mol Biol Cell 4:757–765
Said SM, Yeh TL, Greenwood RS, Whitt JK, Tupler LA, Krishnan KR (1996) MRI morphometric analysis and neuropsychological function in patients with neurofibromatosis. Neuroreport 7:1941–1944
Sangster J, Shores EA, Watt S, North KN (2011) The cognitive profile of preschool-aged children with neurofibromatosis type 1. Child Neuropsychol 17:1–16
Sartin EA, Doran SE, Riddell MG, Herrera GA, Tennyson GS, D’Andrea G, Whitley RD, Collins FS (1994) Characterization of naturally occurring cutaneous neurofibromas in Holstein cattle: a disorder resembling neurofibromatosis type 1 in man. Am J Pathol 145:1168–1174
Saygin O (1981) Nonenzymatic photophosphorylation with visible light: a possible mode of prebiotic ATP formation. Naturwissenschaften 68:617–619
Schmale MC, Hensley GT (1988) Transmissability of a neurofibromatosis-like disease in bicolor damselfish. Cancer Res 48:3828–3833
Schmale MC, Udey LR (1983) Epizootiology of malignant tumors of the bicolor damselfish (Eupomacentrus partitus) from reefs within the Key Largo and Looe Key National Marine Sanctuaries. University of Miami, Miami
Schmale MC, Hensley GT, Udey LR (1983) Multiple schwannomas in the bicolor damselfish, Pomacentrus partitus: a possible model of von Recklinghausen neurofibromatosis. Am J Pathol 112:238–241
Schmale MC, Udey LR, Hensley GT (1986) Neurofibromatosis in the bicolor damselfish (Pomacentrus partitus) as a model for von Recklinghausen neurofibromatosis. Ann NY Acad Sci 486:386–402
Schmale MC, Gibbs PD, Campbell CE (2002) A virus-like agent associated with neurofibromatosis in damselfish. Dis Aquat Organ 49:107–115
Shahar KH, Solaiyappan M, Bluemke DA (2002) Quantitative differentiation of breast lesions based on three-dimensional morphology from magnetic resonance imaging. J Comput Assist Tomogr 26:1047–1053
Shelly M, Lim BK, Cancedda L, Heilshorn SC, Gao H, Poo MM (2010) Local and long-range reciprocal regulation of cAMP and cGMP in axon/dendrite formation. Science 327:547–552
Shilyansky C, Lee YS, Silva AJ (2010) Molecular and cellular mechanisms of learning disabilities: a focus on NF1. Annu Rev Neurosci 33:221–243
Silva AJ, Frankland PW, Marowitz Z, Friedman E, Laszlo GS, Cioffi D, Jacks T, Bourtchuladze R, Lazlo G (1997) A mouse model for the learning and memory deficits associated with neurofibromatosis type 1. Nat Genet 15:281–284
Skolnick MH, Ponder BAJ, Seizinger B (1987) Linkage of NF-1 to 12 chromosome 17 markers: a summary of eight concurrent reports. Genomics 1:382–383
Smith RW (1989) A treatise on the pathology, diagnosis and treatment of neuroma. Clin Orthop 245:3–9
Smullen S, Willcox T, Wetmore R, Zackai E (1994) Otologic manifestations of neurofibromatosis. Laryngoscope 104:663–665
Solomon J, Warren K, Dombi E, Patronas N, Widemann B (2004) Automated detection and volume measurement of plexiform neurofibromas in neurofibromatosis 1 using magnetic resonance imaging. Comput Med Imaging Graph 28:257–265
Spits C, De Rycke M, Van Ranst N, Joris H, Verpoest W, Lissens W, Devroey P, Van Steirteghem A, Liebaers I, Sermon K (2005) Preimplantation genetic diagnosis for neurofibromatosis type 1. Mol Hum Reprod 11:381–387
Staser K, Yang FC, Clapp DW (2010) Mast cells and the neurofibroma microenvironment. Blood 116:157–164
Staser K, Yang FC, Clapp DW (2011) Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression. Annu Rev Pathol 7:469–495
Stevenson DA, Moyer-Mileur LJ, Carey JC, Quick JL, Hoff CJ, Viskochil DH (2005) Case–control study of the muscular compartments and osseous strength in neurofibromatosis type 1 using peripheral quantitative computed tomography. J Musculoskelet Neuronal Interact 5:145–149
Stevenson DA, Zhou H, Ashrafi S, Messiaen LM, Carey JC, D’Astous JL, Santora SD, Viskochil DH (2006) Double inactivation of NF1 in tibial pseudoarthrosis. Am J Hum Genet 79:143–148
Stevenson DA, Schwarz EL, Viskochil DH, Moyer-Mileur LJ, Murray M, Firth SD, D’Astous JL, Carey JC, Pasquali M (2008) Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis. Pediatr Res 63:697–701
The I, Hannigan GE, Cowley GS, Reginald S, Zhong Y, Gusella JF, Hariharan IK, Bernards A (1997) Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science 276:791–794
Tong J, Hannan F, Zhu Y, Bernards A, Zhong Y (2002) Neurofibromin regulates G protein-stimulated adenylyl cyclase activity. Nat Neurosci 5:95–96
Tong JJ, Schriner SE, McCleary D, Day BJ, Wallace DC (2007) Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster. Nat Genet 39:476–485
Tucker T, Riccardi VM, Sutcliffe M, Vielkind J, Wechsler J, Wolkenstein P, Friedman JM (2011) Mast cell densities and distributions distinguish two types of neurofibromas in patients with neurofibromatosis 1. J Histochem Cytochem 59:584–590
Upadhyaya M et al (2007) An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the Nf1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 80:140–151
van Engelen SJ, Krab LC, Moll HA, de Goede-Bolder A, Pluijm SM, Catsman-Berrevoets CE, Elgersma Y, Lequin MH (2008) Quantitative differentiation between healthy and disordered brain matter in patients with neurofibromatosis type I using diffusion tensor imaging. Am J Neuroradiol 29:816–822
Van Teinen P, Rich DC, Summers KM, Ledbetter DH (1987) Regional mapping panel for chromosome 17: application to neurofibromatosis type 1. Genomics 1:374–381
Verlinsky Y, Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Masciangelo C, Levy M, Kaplan B, Lederman J, Kuliev A (2002) Preimplantation diagnosis for neurofibromatosis. Reprod Biomed Online 4:218–222
Videtic GM, Gaspar LE, Zamorano L, Stitt LW, Fontanesi J, Levin KJ (2001) Implant volume as a prognostic variable in brachytherapy decision-making for malignant gliomas stratified by the RTOG recursive partitioning analysis. Int J Radiat Oncol Biol Phys 51:963–968
Virchow R (1857) Uber eniem Fall von vielfachen Neuromen (Faser-Kern-geschwultsen) mit ausgezeichneter localer Recidivfahikeit. Virchows Arch [A] 12:144
Viskochil D (2003) It takes two to tango: mast cell and Schwann cell interactions in neurofibromas. J Clin Invest 112:1791–1793
Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, White R, O’Connell P (1990) Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187–192
Vogt J, Kohlhase J, Morlot S, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H (2011a) Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Hum Mutat 32:E2134–E2147
Vogt J, Nguyen R, Kluwe L, Roehl AC, Mussotter T, Cooper DN, Mautner VF, Kehrer-Sawatzki H, Schuhmann M (2011b) Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. J Med Case Rep 5:577
Von Recklinghausen F (1882) Über die multiplen Fibrome der Haut und ihre Beziehung zu multiplen Neuromen. August Hirschwald, Berlin
Wallace DC, Fan W (2010) Energetics, epigenetics, mitochondrial genetics. Mitochondrion 10:12–31
Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Bereton A, Nicholson J, Mitchell AL, Brownstein BH, Collins FS (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF-1 patients. Science 249:181–186
Xu Y, Chiamvimonvat N, Vazquez AE, Akunuru S, Ratner N, Yamoah EN (2002) Gene-targeted deletion of neurofibromin enhances the expression of a transient outward K + current in Schwann cells: a protein kinase A-mediated mechanism. J Neurosci 22:9194–9202
Zickler AM, Hampp S, Messiaen L, Bengesser K, Mussotter T, Roehl AC, Wimmer K, Mautner VF, Kluwe L, Upadhyaya M, Pasmant E, Chuzhanova N, Kestler HA, Hogel J, Legius E, Claes K, Cooper DN, Kehrer-Sawatzki H (2011) Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. Hum Mutat 33(2):372–83
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Riccardi, V.M. (2012). von Recklinghausen Disease: 130 Years. In: Upadhyaya, M., Cooper, D. (eds) Neurofibromatosis Type 1. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-32864-0_1
Download citation
DOI: https://doi.org/10.1007/978-3-642-32864-0_1
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-32863-3
Online ISBN: 978-3-642-32864-0
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)