Neurofibromatosis type 1: New insights into neurocognitive issues

Current Neurology and Neuroscience Reports

Volumn 6, Issue 2, 2006, Pages 136-143

  Acosta, Maria T ^a   Gioia, Gerard A ^b   Silva, Alcino J ^b  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MEVINOLIN; NEUROFIBROMIN;

ACADEMIC ACHIEVEMENT; ATTENTION DEFICIT DISORDER; BLOOD BRAIN BARRIER; CLINICAL TRIAL; COGNITION; COGNITIVE DEFECT; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; DRUG PENETRATION; FAMILIAL HYPERCHOLESTEROLEMIA; HUMAN; HYPERLIPIDEMIA; INTELLIGENCE QUOTIENT; LEARNING DISORDER; MEMORY DISORDER; MENTAL CAPACITY; MENTAL DEFICIENCY; MENTAL FUNCTION; MENTAL PERFORMANCE; MOLECULAR GENETICS; MOLECULAR MECHANICS; MOUSE; NERVE CELL PLASTICITY; NEUROFIBROMATOSIS; NEUROIMAGING; NONHUMAN; PHENOTYPE; REVIEW; RISK ASSESSMENT; RISK FACTOR; SOCIAL INTERACTION; SPECIES DIFFERENCE; UNSPECIFIED SIDE EFFECT;

ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; CHILD; COGNITION; COGNITION DISORDERS; HUMANS; LEARNING DISORDERS; MEMORY; MENTAL RETARDATION; NEUROFIBROMATOSIS 1; PHENOTYPE; PSYCHOMOTOR PERFORMANCE;

EID: 33645285906     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-996-0036-5     Document Type: Review

References (55)

1. Castle B, Baser ME, Huson SM, et al.: Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. J Med Genet 2003, 40:e109.
2. Huson SM: Recent developments in the diagnosis and management of neurofibromatosis. Arch Dis Child 1989, 64:745-749.
3. North K, Joy P, Yuille D, et al.: Cognitive function and academic performance in children with neurofibromatosis type 1. Dev Med Child Neurol 1995, 37:427-436.
4. Ozonoff S: Cognitive impairment in neurofibromatosis type 1. Am J Med Genet 1999, 89:45-52.
5. North KN, 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.
6. Hyman SL, Shores A, North KN: The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology 2005, 65:1037-1044.
7. Ballester R, Marchuk D, Boguski M, et al.: The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 1990, 63:851-859. 8 Martin GA, Viskochil D, Bollag G, et al.: The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 1990, 63:843-849.
8. Martin GA, Viskochil D, Bollag G, et al.: The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 1990, 63:843-849.
9. Xu GF, Lin B, Tanaka K, et al.: The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell 1990, 63:835-841.
10. Guo HF, Tong J, Hannan F, et al.: A neurofibromatosis-1-regulated pathway is required for learning in Drosophila. Nature 2000, 403:895-898.
11. Xu H, Gutmann DH: Mutations in the GAP-related domain impair the ability of neurofibromin to associate with microtubules. Brain Res 1997, 759:149-152.
12. Bernards A, Snijders AJ, Hannigan GE, et al.: Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments. Hum Mol Genet 1993, 2:645-650.
13. Costa RM, Silva AJ: Mouse models of neurofibromatosis type I: bridging the GAP. Trends Mol Med 2003, 9:19-23.
14. Costa RM, Silva AJ: Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1. J Child Neurol 2002, 17:622-626.
15. Hyman SL, Gill DS, Shores EA, et al.: Natural history of cognitive deficits and their relationship to MRI T2-hyper-intensities in NF1. Neurology 2003, 60:1139-1145.
16. Cutting LE, Koth CW, Denckla MB: How children with neurofibromatosis type 1 differ from "typical" learning disabled clinic attenders: nonverbal learning disabilities revisited. Dev Neuropsychol 2000, 17:29-47.
17. Huson SM, Harper PS, Compston DA: Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 1988, 111(Pt 6):1355-1381.
18. North K, Joy P, Yuille D, et al.: Specific learning disability in children with neurofibromatosis type 1: significance of MRI abnormalities. Neurology 1994, 44:878-883.
19. North K: Neurofibromatosis type 1. Am J Med Genet 2000, 97:119-127.
20. Joy P, Roberts C, North K, de Silva M: Neuropsychological function and MRI abnormalities in neurofibromatosis type 1. Dev Med Child Neurol 1995, 37:906-914.
21. Moore BD III, Ater JL, Needle MN, et al.: Neuropsychological profile of children with neurofibromatosis, brain tumor, or both. J Child Neurol 1994, 9:368-377.
22. Rosser TL, Packer RJ: Neurocognitive dysfunction in children with neurofibromatosis type 1. Curr Neurol Neurosci Rep 2003, 3:129-136.
23. Eliason MJ: Neurofibromatosis: implications for learning and behavior. J Dev Behav Pediatr 1986, 7:175-179.
24. Kayl AE, Moore BD III, Slopis JM, et al.: Quantitative morphology of the corpus callosum in children with neurofibromatosis and attention-deficit hyperactivity disorder. J Child Neurol 2000, 15:90-96.
25. Koth CW, Cutting LE, Denckla MB: The association of neurofibromatosis type 1 and attention deficit hyperactivity disorder. Neuropsychol Dev Cogn C Child Neuropsychol 2000, 6:185-194.
26. Mautner VF, Kluwe L, Thakker SD, Leark RA: Treatment of ADHD in neurofibromatosis type 1. Dev Med Child Neurol 2002, 44:164-170.
27. Gioia CA, Isquith PK, Kenworthy L, Barton RM: Profiles of everyday executive function in acquired and developmental disorders. Neuropsychol Dev Cogn C Child Neuropsychol 2002, 8:121-137.
28. Pennington PF, Bennetto L, McAleer OK, Roberts RL: Executive functions and working memory: theoretical and measurements issues. In Attention, Memory and Executive Function. Edited by Lyon GR, Krasnegor NA. Baltimore: Paul H. Brookes Publishing; 1996.
29. Barkley RA: Genetics of childhood disorders: XVII. ADHD, Part 1: The executive functions and ADHD. J Am Acad Child Adolesc Psychiatry 2000, 39:1064-1068.
30. Barkley RA: ADHD and the Nature of Self-Control. New York: Guilford Press; 1997.
31. Barkley RA: Linkages between attention and executive function. In Attention, Memory and Executive Function. Edited by Lyon GR, Krasnegor NA. Baltimore: Paul H. Brookes; 1996.
32. Gioia GA, Isquith PK: Executive function and ADHD: exploration through children's everyday behaviors. Clin Neuropsychol Assessment 2001, 2:61-64.
33. Ferner RE, Hughes RA, Weinman J: Intellectual impairment in neurofibromatosis 1. J Neurol Sci 1996, 138:125-133.
34. Hofman KJ, Harris EL, Bryan RN, Denckla MB: Neurofibromatosis type 1: the cognitive phenotype. J Pediatr 1994, 124:S1-S8.
35. Mazzocco MM: Math learning disability and math LD subtypes: evidence from studies of Turner syndrome, fragile X syndrome, and neurofibromatosis type 1. J Learn Disabil 2001, 34:520-533.
36. Zoller ME, Rembeck B, Backman L: Neuropsychological deficits in adults with neurofibromatosis type 1. Acta Neurol Scand 1997, 95:225-232.
37. Eliason MJ: Neuropsychological patterns: neurofibromatosis compared to developmental learning disorders. Neurofibromatosis 1988, 1:17-25.
38. Daston MM, Ratner N: Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development. Dev Dyn 1992, 195:216-226.
39. Daston MM, Scrable H, Nordlund M, et al.: The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 1992, 8:415-428.
40. Tong J, Hannan F, Zhu Y, et al.: Neurofibromin regulates G protein-stimulated adenylyl cyclase activity. Nat Neurosci 2002, 5:95-96.
41. Li C, Cheng Y, Gutmann DA, Mangoura D: Differential localization of the neurofibromatosis 1 (NF1) gene product, neurofibromin, with the F-actin or microtubule cytoskeleton during differentiation of telencephalic neurons. Brain Res Dev Brain Res 2001, 130:231-248.
42. Brannan CI, Perkins AS, Vogel KS, 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.
43. Jacks T, Shih TS, Schmitt EM, et al.: Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet 1994, 7:353-361.
44. Costa RM, Federov NB, Kogan JH, et al.: Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature 2002, 415:526-530.
45. Silva AJ, Elgersma Y, Costa RM: Molecular and cellular mechanisms of cognitive function: implications for psychiatric disorders. Biol Psychiatry 2000, 47:200-209.
46. Weeber EJ, Levenson JM, Sweatt JD: Molecular genetics of human cognition. Mol Interv 2002, 2:376-391.
47. Costa RM, Yang T, Huynh DP, et al.: Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nat Genet 2001, 27:399-405.
48. Silva AJ, Frankland PW, Marowitz Z, et al.: A mouse model for the learning and memory deficits associated with neurofibromatosis type 1. Nat Genet 1997, 15:281-284.
49. Mazieres J, Pradines A, Favre G: Perspectives on farnesyl transferase inhibitors in cancer therapy. Cancer Lett 2004, 206:159-167.
50. Li W, Cui Y, Kushner SA, 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.
51. Kwiterovich PO Jr: Safety and efficacy of treatment of children and adolescents with elevated low density lipoprotein levels with a step two diet or with lovastatin. Nutr Metab Cardiovasc Dis 2001, 11(Suppl 5):30-34.
52. Stein EA, Illingworth DR, Kwiterovich PO Jr, et al.: Efficacy and safety of lovastatin in adolescent males with heterozygous familial hypercholesterolemia: a randomized controlled trial. JAMA 1999, 281:137-144.
53. Lambert M, Lupien PJ, Gagne C, et al.: Treatment of familial hypercholesterolemia in children and adolescents: effect of lovastatin. Canadian Lovastatin in Children Study Group. Pediatrics 1996, 97:619-628.
54. Kleschevnikov AM, Belichenko PV, Villar AJ, et al.: Hippocampal long-term potentiation suppressed by increased inhibition in the ts65dn mouse, a genetic model of Down syndrome. J Neurosci 2004, 24:8153-8160.
55. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988, 45:575-578.