Fragile X syndrome

Current Genomics

Volumn 12, Issue 3, 2011, Pages 216-224

  McLennan, Yingratana ^a   Polussa, Jonathan ^a   Tassone, Flora ^a,b   Hagerman, Randi ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Fragile X; mGluR antagonists; Obesity; Prader Willi phenotype; Trinucleotide repeat

Indexed keywords

4 AMINOBUTYRIC ACID; ACTIVITY REGULATED CYTOSKELETON ASSOCIATED PROTEIN; ALPHA ADRENERGIC RECEPTOR STIMULATING AGENT; AMPA RECEPTOR; ARIPIPRAZOLE; ATYPICAL ANTIPSYCHOTIC AGENT; BRAIN DERIVED NEUROTROPHIC FACTOR; CALCINEURIN; COMPLEMENTARY DNA; CORTICOSTERONE; ELASTIN; ELONGATION FACTOR 1ALPHA; FRAGILE X MENTAL RETARDATION PROTEIN; MELATONIN; MESSENGER RNA; METABOTROPIC GLUTAMATE RECEPTOR 5 ANTAGONIST; METABOTROPIC RECEPTOR 5; MINOCYCLINE; PROBIOTIC AGENT; PROTEIN G; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; RISPERIDONE; SCAFFOLD PROTEIN; SEROTONIN UPTAKE INHIBITOR; SMALL NUCLEOLAR RNA; STRESS HORMONE; UNCLASSIFIED DRUG;

ANOREXIA; ANXIETY; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; CHILDHOOD DISEASE; CHROMOSOME DELETION; CHROMOSOME XQ; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FACE PROFILE; FOOD PREFERENCE; FRAGILE X SYNDROME; GASTROINTESTINAL SYMPTOM; HUMAN; HYPERACTIVITY; HYPERPHAGIA; HYPOGONADISM; HYPOTHALAMUS DISEASE; IMPULSE CONTROL DISORDER; JOINT HYPERMOBILITY; LOOSE FECES; LOW DRUG DOSE; MACROORCHIDISM; MOLECULAR DIAGNOSIS; NERVE CELL; NONHUMAN; OBESITY; OVERNUTRITION; OXIDATIVE STRESS; PRADER WILLI SYNDROME; RNA TRANSPORT; SLEEP DISORDER; UNIPARENTAL DISOMY; VERBAL BEHAVIOR;

EID: 79956269144     PISSN: 13892029     EISSN: 18755488     Source Type: Journal    
DOI: 10.2174/138920211795677886     Document Type: Article

References (84)

1. Raspa, M.; Bailey, D. B.; Bishop, E.; Holiday, D.; Olmsted, M. Obesity, food selectivity, and physical activity in individuals withfragile X syndrome. Am. J. Intellect. Dev. Disabil., 2010, 115(6),482-495.
2. Reddy, D. S.; O'Malley, B. W.; Rogawski, M.A. Anxiolyticactivity of progesterone in progesterone receptor knockout mice. Neuropharma, 2005, 48 (1), 14-24.
3. Hagerman, R.; Hoem, G.; Hagerman, P. Fragile X and autism:Intertwined at the molecular level leading to targeted treatments. Mol. Autism, 2010, 1 (1), 12.
4. Tassone, F.; Hagerman, R. J.; Chamberlain, W. D.; Hagerman, P.J. Transcription of the FMR1 gene in individuals with fragile Xsyndrome. Am. J. Med. Genet., 2000, 97 (3), 195-203.
5. Hagerman, R. J.; Hagerman, P. J. The fragile X premutation: Intothe phenotypic fold. Curr. Opin. Genet. Dev., 2002, 12, 278-283.
6. Xie, X.; Ott, J. Testing linkage disequilibrium between a diseasegene and marker loci. Am. J. Hum. Genet., 1993, 53, 1107(abstract).
7. Zang, J. B.; Nosyreva, E. D.; Spencer, C. M.; Volk, L.J.;Musunuru, K.; Zhong, R.; Stone, E.F.; Yuva-Paylor, L.A.; Huber,K.M.; Paylor, R.; Darnell, J.C.; Darnell, R.B. A mouse model ofthe human Fragile X syndrome I304N mutation. PLoS Genet.,2009, 5(12), e1000758.
8. Verkerk, A. J.; Pieretti, M.; Sutcliffe, J. S.; Fu, Y. H.; Kuhl, D.P.; Pizzuti, A.; Reiner, O.; Richards, S.; Victoria, M.F.; Zhang, F.P.; Eussen, G.B., VanOmmen, L.A.J., Blonden, G.J., Riggins, J.L., Chastain, C.B., Kunse, H., Galjaard, T.C., Caskey, D.L., Nelson, B.A., Oostara, Warren, S.T. Identification of a gene (FMR-1)containing a CGG repeat coincident with a breakpoint clusterregion exhibiting length variation in fragile X syndrome. Cell,1991, 65 (5), 905-914.
9. Loesch, D. Z.; Huggins, R. M.; Hagerman, R.J. Phenotypicvariation and FMRP levels in fragile X. Ment. Retard. Dev.Disabil. Res. Rev., 2004, 10 (1), 31-41.
10. Loesch, D. Z.; Lafranchi, M.; Scott, D. Anthropometry in Martin-Bell syndrome. Am. J. Med. Genet., 1988, 30(1-2), 149-164.
11. Levenga, J.; de Vrij, F.M.; Oostra, B.A.; Willemsen, R. Potentialtherapeutic interventions for fragile X syndrome. Trends Mol.Med., 2010, 16 (11), 516-527.
12. Nowicki, S. T.; Tassone, F.; Ono, M. Y.; Ferranti, J.; Croquette, M.F.; Goodlin-Jones, B.; Hagerman, R. J. The Prader-Willi phenotypeof fragile X syndrome. J. Dev. Behav. Pediatr., 2007, 28 (2), 133-138.
13. Zhang, M.; Wang, Q.; Huang, Y. Fragile X mental retardationprotein FMRP and the RNA export factor NXF2 associate with anddestabilize Nxf1 mRNA in neuronal cells. Proc. Natl. Acad. Sci.USA, 2007, 104 (24), 10057-10062
14. Devys, D.; Lutz, Y.; Rouyer, N.; Bellocq, J. P.; Mandel, J. L. TheFMR-1 protein is cytoplasmic, most abundant in neurons andappears normal in carriers of a fragile X premutation. Nat. Genet.,1993, 4 (4), 335-340.
15. Bassell, G. J.; Warren, S.T. Fragile X syndrome: Loss of localmRNA regulation alters synaptic development and function. Neuron, 2008, 60 (2), 201-214.
16. Bagni, C.; Greenough, W. T. From mRNP trafficking to spinedysmorphogenesis: The roots of fragile X syndrome. Nat. Rev.,2005, 6 (5), 376-387.
17. Zalfa, F.; Eleuteri, B.; Dickson, K. S.; Mercaldo, V.; De Rubeis, S.; di Penta, A.; Tabolacci, E.; Chiurazzi, P.; Neri, G.; Grant, S.G.;Bagni, C. A new function for the fragile X mental retardationprotein in regulation of PSD-95 mRNA stability. Nat. Neurosci.,2007, 10 (5), 578-587.
18. Napoli, I.; Mercaldo, V.; Boyl, P. P.; Eleuteri, B.; Zalfa, F.; DeRubeis, S.; Di Marino, D.; Mohr, E.; Massimi, M.; Falconi, M.; Witke, W.; Costa-Mattioli, M.; Sonenberg, N.; Achsel, T.; Bagni, C. The fragile X syndrome protein represses activity-dependenttranslation through CYFIP1, a new 4E-BP. Cell, 2008, 134 (6),1042-1054.
19. Fatemi, S. H.; Kneeland, R. E.; Liesch, S. B.; Folsom, T. D. FragileX mental retardation protein levels are decreased in majorpsychiatric disorders. Schizophr. Res., 2010, 124 (1-3), 246-247.
20. De Rubeis, S.; Bagni, C. Fragile X mental retardation proteincontrol of neuronal mRNA metabolism: Insights into mRNAstability. Mol. Cell Neurosci., 2010, 43 (1), 43-50.
21. Feng, Y.; Absher, D.; Eberhart, D.E.; Brown, V.; Malter, H.E.;Warren, S.T. FMRP associates with polyribosomes as an mRNP,and the I304N mutation of severe fragile X syndrome abolishes thisassociation. Mol. Cell, 1997, 1, 109-118.
22. de Bolle, X.; Bayliss, C. D. Gene expression technology. MethodsMol. Med., 2003, 71, 135-146.
23. Darnell, J.C.; van Dreische, S.; Zhang, C.; Mele, A.; Zang, J.B.; Fak, J.J.; S-W., C.; Richter, J.; Darnell, R.B. In HITS-CLIPIdentifies Specific Neuronal mRNA Targets of TranslationalRepression by the Fragile X Mental Retardation Protein, FMRP[abstract], Keystone Symposia, Snowbird, UT, 2010, pp. 56[abstract].
24. Jin, P.; Alisch, R. S.; Warren, S. T. RNA and microRNAs in fragileX mental retardation. Nat. Cell Biol., 2004, 6 (11), 1048-1053.
25. Hieronymus, H.; Silver, P.A. A systems view of mRNP biology. Genes Dev., 2004, 18 (23), 2845-2860.
26. Braun, K.; Segal, M. FMRP involvement in formation of synapsesamong cultured hippocampal neurons. Cerebral Cortex, 2000, 10,1045-1052.
27. Castets, M.; Schaeffer, C.; Bechara, E.; Schenck, A.; Khandjian, E.W.; Luche, S.; Moine, H.; Rabilloud, T.; Mandel, J. L.; Bardoni, B. FMRP interferes with the Rac1 pathway and controls actincytoskeleton dynamics in murine fibroblasts. Hum. Mol. Genet.,2005, 14 (6), 835-844.
28. Comery, T. A.; Harris, J. B.; Willems, P. J.; Oostra, B. A.; Irwin, S.A.; Weiler, I. J.; Greenough, W. T. Abnormal dendritic spines infragile X knockout mice: maturation and pruning deficits. Proc.Natl. Acad. Sci. USA, 1997, 94 (10), 5401-4.
29. Bear, M. F.; Huber, K. M.; Warren, S. T. The mGluR theory offragile X mental retardation. Trends Neurosci., 2004, 27 (7), 370-377.
30. Huber, K. M.; Gallagher, S. M.; Warren, S. T.; Bear, M. F. Alteredsynaptic plasticity in a mouse model of fragile X mentalretardation. Proc. Natl. Acad. Sci. USA, 2002, 99(11), 7746-7750.
31. Nakamoto, M.; Nalavadi, V.; Epstein, M.P.; Narayanan, U.; Bassell, G.J.; Warren, S.T. Fragile X mental retardation proteindeficiency leads to excessive mGluR5-dependent internalization of AMPA receptors. Proc. Natl. Acad. Sci. USA, 2007, 104 (39),15537-15542.
32. Yan, Q. J.; Rammal, M.; Tranfaglia, M.; Bauchwitz, R.P. Suppression of two major fragile X syndrome mouse modelphenotypes by the mGluR5 antagonist MPEP. Neuropharma, 2005,49 (7), 1053-1066.
33. Dolen, G.; Carpenter, R. L.; Ocain, T. D.; Bear, M. F. Mechanism-based approaches to treating fragile X. Pharmacol. Ther., 2010,127 (1), 78-93.
34. Pacey, L. K.; Doss, L.; Cifelli, C.; der Kooy, D.; Heximer, S. P.; Hampson, D.R. Genetic deletion of regulator of G-proteinsignaling 4 (RGS4) rescues a subset of fragile X related phenotypesin the FMR1 knockout mouse. Mol. Cell Neurosci., 2011, 46 (3),563-572.
35. Berry-Kravis, E.; Sumis, A.; Kim, O. K.; Lara, R.; Wuu, J. Characterization of potential outcome measures for future clinical trials in fragile x syndrome. J. Autism Dev. Disord., 2008, 38 (9),1751-1757.
36. Louhivuori, V.; Vicario, A.; Uutela, M.; Rantamaki, T.; Louhivuori, L.M.; Castren, E.; Tongiorgi, E.; Akerman, K.E.; Castren, M.L. BDNF and TrkB in neuronal differentiation ofFmr1-knockout mouse. Neurobiol. Dis., 2010, 41(2), 469-480.
37. Fulks, J.L.; O'Bryhim, B.E.; Wenzel, S.K.; Fowler, S.C.; Vorontsova, E.; Pinkston, J.W.; Ortiz, A.N.; Johnson, M. A.Dopamine release and uptake impairments and behavioralalterations observed in mice that model fragile X mental retardationsyndrome. ACS Chem. Neurosci., 2010, 1(10), 679-690.
38. Bailey, D. B., Jr.; Raspa, M.; Olmsted, M.; Holiday, D. B. Co-occurring conditions associated with FMR1 gene variations:Findings from a national parent survey. Am. J. Med. Genet., 2008,146A (16), 2060-2069.
39. Noh, J.; Seal, R. P.; Garver, J. A.; Edwards, R. H.; Kandler, K. Glutamate co-release at GABA/glycinergic synapses is crucial forthe refinement of an inhibitory map. Nat. Neurosci., 2010, 13 (2),232-238.
40. D'Hulst, C.; Heulens, I.; Brouwer, J. R.; Willemsen, R.; De Geest, N.; Reeve, S.P.; De Deyn, P. P.; Hassan, B.A.; Kooy, R.F. Expression of the GABAergic system in animal models for fragileX syndrome and fragile X associated tremor/ataxia syndrome(FXTAS). Brain Res., 2009, 1253, 176-183.
41. Adusei, D. C.; Pacey, L.K.; Chen, D.; Hampson, D.R. Earlydevelopmental alterations in GABAergic protein expression infragile X knockout mice. Neuropharmacology, 2010, 59 (3), 167-171.
42. Wang, L. W.; Berry-Kravis, E.; Hagerman, R.J. Fragile X:Leading the way for targeted treatments in autism. Neurotherapeutics, 2010, 7 (3), 264-274.
43. Qin, M.; Kang, J.; Burlin, T. V.; Jiang, C.; Smith, C.B. Postadolescent changes in regional cerebral protein synthesis: Anin vivo study in the FMR1 null mouse. J. Neurosci., 2005, 25 (20),5087-5095.
44. Hagerman, R. J.; Cronister, A. Fragile X Syndrome: Diagnosis,Treatment, and Research, 2nd ed. Johns Hopkins University Press:Baltimore, 1996.
45. Cordeiro, L.; Ballinger, E.; Hagerman, R.; Hessl, D. Clinicalassessment of DSM-IV anxiety disorders in fragile X syndrome:Prevalence and characterization. J. Nneurodevelop. Disord., 2011,DOI 10.1007/s11689-010-9067-y.
46. Miller, L. J.; McIntosh, D. N.; McGrath, J.; Shyu, V.; Lampe, M.; Taylor, A. K.; Tassone, F.; Neitzel, K.; Stackhouse, T.; Hagerman, R.J. Electrodermal responses to sensory stimuli in individuals withfragile X syndrome: A preliminary report. Am. J. Med. Genet.,1999, 83 (4), 268-279.
47. Munir, F.; Cornish, K. M.; Wilding, J. Nature of the workingmemory deficit in fragile-X syndrome. Brain & Cognition, 2000,44 (3), 387-401.
48. Kronk, R.; Bishop, E. E.; Raspa, M.; Bickel, J.O.; Mandel, D.A. Bailey D.B., Jr. Prevalence, nature, and correlates of sleepproblems among children with fragile X syndrome based on a largescale parent survey. Sleep, 2010, 33 (5), 679-687.
49. Fryns, J. P.; Haspeslagh, M.; Dereymaeker, A. M.; Volcke, P.; Van den Berghe, H. A peculiar subphenotype in the fra(X) syndrome:extreme obesity-short stature-stubby hands and feet-diffusehyperpigmentation. Further evidence of disturbed hypothalamicfunction in the fra(X) syndrome? Clin. Genet., 1987, 32 (6), 388-392.
50. de Vries, B. B.; Fryns, J. P.; Butler, M. G.; Canziani, F.; Wesby-van Swaay, E.; van Hemel, J. O.; Oostra, B. A.; Halley, D. J.J.; Niermeyer, M.F. Clinical and molecular studies in fragile Xpatients with a Prader-Willi-like phenotype. J. Med. Genet., 1993,30 (9), 761-766.
51. Schrander-Stumpel, C.; Gerver, W. J.; Meyer, H.; Engelen, J.; Mulder, H.; Fryns, J.P. Prader-Willi-like phenotype in fragile Xsyndrome. Clin. Genet., 1994, 45 (4), 175-180.
52. Bennetto, L., Pennington, B.F. Neuropsychology in Fragile XSyndrome: Diagnosis, Treatment, and Research. Hagerman, R. J.;Hagerman, P. J. (eds.), Johns Hopkins University Press: Baltimore,2002, pp. 206-248.
53. Brouwer, J. R.; Severijnen, E.; de Jong, F. H.; Hessl, D.; Hagerman, R.J.; Oostra, B.A.; Willemsen, R. Alteredhypothalamus-pituitary-adrenal gland axis regulation in theexpanded CGG-repeat mouse model for fragile X-associatedtremor/ataxia syndrome. Psychoneuroendocrin, 2008, 33 (6), 863-873.
54. Hessl, D.; Glaser, B.; Dyer-Friedman, J.; Reiss, A.L. Socialbehavior and cortisol reactivity in children with fragile Xsyndrome. J. Child Psychol. Psychiatry, 2006, 47(6), 602-610.
55. el Bekay, R.; Romero-Zerbo, Y.; Decara, J.; Sanchez-Salido, L.; Del Arco-Herrera, I.; Rodriguez-de Fonseca, F.; de Diego-Otero,Y. Enhanced markers of oxidative stress, altered antioxidants andNADPH-oxidase activation in brains from fragile X mentalretardation 1-deficient mice, a pathological model for Fragile Xsyndrome. Eur. J. Neurosci., 2007, 26(11), 3169-3180.
56. Giulivi, C.; Zhang, Y. F.; Omanska-Klusek, A.; Ross-Inta, C.;Wong, S.; Hertz-Picciotto, I.; Tassone, F.; Pessah, I.N. Mitochondrial dysfunction in autism. JAMA, 2010, 304 (21), 2389-2396.
57. Chauhan, A.; Chauhan, V. Oxidative stress in autism. Pathophysiology, 2006, 13 (3), 171-181.
58. Lambeth, J.D. NOX enzymes and the biology of reactive oxygen. Nat. Rev. Immunol., 2004, 4 (3), 181-189.
59. de Diego-Otero, Y.; Romero-Zerbo, Y.; el Bekay, R.; Decara, J.; Sanchez, L.; Rodriguez-de Fonseca, F.; del Arco-Herrera, I. Alpha-tocopherol protects against oxidative stress in the fragile Xknockout mouse: An experimental therapeutic approach for theFmr1 deficiency. Neuropsychopharma, 2009, 34(4), 1011-1026.
60. Romero-Zerbo, Y.; Decara, J.; el Bekay, R.; Sanchez-Salido, L.; Del Arco-Herrera, I.; de Fonseca, F.R.; de Diego-Otero, Y.Protective effects of melatonin against oxidative stress in Fmr1knockout mice: a therapeutic research model for the fragile Xsyndrome. J. Pineal Res., 2009, 46 (2), 224-234.
61. Ross-Inta, C.; Omanska-Klusek, A.; Wong, S.; Barrow, C.; Garcia-Arocena, D.; Iwahashi, C.; Berry-Kravis, E.; Hagerman, R.J.; Hagerman, P.J.; Giulivi, C. Evidence of mitochondrial dysfunctionin fragile X-associated tremor/ataxia syndrome. Biochem. J., 2010,429 (3), 545-552.
62. Skryabin, B. V.; Gubar, L. V.; Seeger, B.; Pfeiffer, J.; Handel, S.; Robeck, T.; Karpova, E.; Rozhdestvensky, T. S.; Brosius, J. Deletion of the MBII-85 snoRNA Gene Cluster in Mice Results inPostnatal Growth Retardation. PLoS Genetics, 2007, 3 (12), e235-239.
63. Banerjee, P.; Schoenfeld, B.P.; Bell, A.J.; Choi, C.H.; Bradley, M. P.; Hinchey, P.; Kollaros, M.; Park, J.H.; McBride, S.M.; Dockendorff, T.C. Short-and long-term memory are modulated bymultiple isoforms of the fragile X mental retardation protein. J.Neurosci., 2010, 30 (19), 6782-6792.
64. Harris, S. W.; Hessl, D.; Goodlin-Jones, B.; Ferranti, J.; Bacalman, S.; Barbato, I.; Tassone, F.; Hagerman, P.J.; Herman, H.; Hagerman, R.J. Autism profiles of males with fragile X syndrome. Am. J. Ment. Retard., 2008, 113 (6), 427-438.
65. Kaufmann, W. E.; Cortell, R.; Kau, A. S.; Bukelis, I.; Tierney, E.; Gray, R. M.; Cox, C.; Capone, G. T.; Stanard, P. Autism spectrumdisorder in fragile X syndrome: communication, social interaction,and specific behaviors. Am. J. Med. Genet., 2004, 129A (3), 225-234.
66. Nishimura, Y.; Martin, C. L.; Vazquez-Lopez, A.; Spence, S.J.; Alvarez-Retuerto, A.I.; Sigman, M.; Steindler, C.; Pellegrini, S.; Schanen, N.C.; Warren, S.T.; Geschwind, D.H. Genome-wideexpression profiling of lymphoblastoid cell lines distinguishesdifferent forms of autism and reveals shared pathways. Hum. Mol.Genet., 2007, 16 (14), 1682-1698.
67. Veltman, M. W.; Thompson, R. J.; Roberts, S. E.; Thomas, N.S.; Whittington, J.; Bolton, P.F. Prader-Willi syndrome--a studycomparing deletion and uniparental disomy cases with reference toautism spectrum disorders. Eur. Child Adolesc. Psychiatry, 2004,13 (1), 42-50.
68. Greaves, N.; Prince, E.; Evans, D. W.; Charman, T. Repetitive andritualistic behaviour in children with Prader-Willi syndrome andchildren with autism. J. Intellect. Disabil. Res., 2006, 50 (Pt 2), 92-100.
69. Ho, A. Y.; Dimitropoulos, A. Clinical management of behavioralcharacteristics of Prader-Willi syndrome. Neuropsychiatr. Dis.Treat., 2010, 6, 107-118.
70. Bittel, D. C.; Kibiryeva, N.; Butler, M. G. Expression of 4 genesbetween chromosome 15 breakpoints 1 and 2 and behavioraloutcomes in Prader-Willi syndrome. Pediatrics, 2006, 118 (4),e1276-e1283.
71. Chai, J. H.; Locke, D. P.; Greally, J. M.; Knoll, J. H.; Ohta, T.; Dunai, J.; Yavor, A.; Eichler, E. E.; Nicholls, R.D. Identificationof four highly conserved genes between breakpoint hotspots BP1and BP2 of the Prader-Willi/Angelman syndromes deletion regionthat have undergone evolutionary transposition mediated byflanking duplicons. Am. J. Hum. Genet., 2003, 73 (4), 898- 925.
72. Schenck, A.; Bardoni, B.; Langmann, C.; Harden, N.; Mandel, J.L.; Giangrande, A. CYFIP/Sra-1 controls neuronal connectivity inDrosophila and links the Rac1 GTPase pathway to the fragile Xprotein. Neuron, 2003, 38 (6), 887-898.
73. Luo, L. Actin cytoskeleton regulation in neuronal morphogenesisand structural plasticity. Annu. Rev. Cell Dev. Biol., 2002, 18, 601-635.
74. Irwin, S.A.; Idupulapati, M.; Gilbert, M. E.; Harris, J.B.; Chakravarti, A. B.; Rogers, E.J.; Crisostomo, R. A.; Larsen, B.P.; Mehta, A.; Alcantara, C.J.; Patel, B.; Swain, R. A.; Weiler, I.J.; Oostra, B.A.; Greenough, W.T. Dendritic spine and dendritic fieldcharacteristics of layer V pyramidal neurons in the visual cortex offragile-X knockout mice. Am. J. Med. Genet., 2002, 111 (2), 140-146.
75. Hagerman, R. J.; Berry-Kravis, E.; Kaufmann, W. E.; Ono, M.Y.; Tartaglia, N.; Lachiewicz, A.; Kronk, R.; Delahunty, C.; Hessl, D.; Visootsak, J.; Picker, J.; Gane, L.; Tranfaglia, M. Advances in thetreatment of fragile X syndrome. Pediatrics, 2009, 123 (1), 378-390.
76. Berry-Kravis, E.; Potanos, K. Psychopharmacology in fragile Xsyndrome--present and future. Ment. Retard. Dev. Disabil. Res.Rev., 2004, 10 (1), 42-48.
77. Berry-Kravis, E.; Hessl, D.; Coffey, S.; Hervey, C.; Schneider, A.; Yuhas, J.; Hutchison, J.; Snape, M.; Tranfaglia, M.; Nguyen, D.V.; Hagerman, R. A pilot open label, single dose trial of fenobam inadults with fragile X syndrome. J. Med. Genet., 2009, 46 (4), 266.
78. Jacquemont, S.; Curie, A.; des Portes, V.; Torrioli, M.G.; Berry-Kravis, E.; Hagerman, R. J.; Ramos, F.J.; Cornish, K.; He, Y.; Paulding, C.; Neri, G.; Chen, F.; Hadjikhani, N.; Martinet, D.; Meyer, J.; Beckmann, J. S.; Delange, K.; Brun, A.; Bussy, G.; Gasparini, F.; Hilse, T.; Floesser, A.; Branson, J.; Bilbe, G.; Johns, D.; Gomez-Mancilla, B. Epigenetic Modification of the FMR1gene in fragile X syndrome is associated with differential responseto the mGluR5antagonist AFQ056. Sci. Transl. Med., 2011, 3 (64),p. 64ra1.
79. Berry-Kravis, E.; Cherubini, M.; Zarevics, P.; Rathmell, B.; Wang, P.P.; Carpenter, R.; Bear, M.; Hagerman, R. In Arbaclofen for theTreatment of Children and Adults with Fragile X Syndrome:Results of a Phase 2, Randomized, Double-Blind, Placebo-Controlled, Crossover Study International Meeting for AutismResearch, Philadelphia, PA, 2010, pp. 741 [abstract# 140.004].
80. Bilousova, T.V.; Dansie, L.; Ngo, M.; Aye, J.; C.J.R.; Ethell, D.W.; Ethell, I. M. Minocycline promotes dendritic spinematuration and improves behavioural performance in the fragile Xmouse model. J. Med. Genet., 2009, 46 (2), 94-102.
81. Utari, A.; Chonchaiya, W.; Rivera, S. M.; Schneider, A.; Hagerman, R.J.; Faradz, S.M.; Ethell, I. M.; Nguyen, D.V. Sideeffects of minocycline treatment in patients with fragile Xsyndrome and exploration of outcome measures. Am. J. Intellect.Dev. Disabil., 2010, 115 (5), 433-443.
82. Paribello, C.; Tao, L.; Folino, A.; Berry-Kravis, E.; Tranfaglia, M.; Ethell, I.M.; Ethell, D.W. Open-label add-on treatment trial ofminocycline in fragile X syndrome. BMC Neurol., 2010, 10, p. 91.
83. McCandless, S.E. Clinical Report-Health Supervision for Children With Prader-Willi Syndrome. Pediatrics, 2011. 127(1),pp. 195-204.
84. Hagerman, R.J.; Hagerman, P.J. Fragile X Syndrome: Diagnosis,Treatment, and Research, 3rd Edition. Hagerman, R.J; Hagerman,P.J. (Eds.). 2002, The Johns Hopkins University Press: Baltimore.