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Volumn 21, Issue 34, 2015, Pages 4972-4979

Advances in the understanding of the gabaergic neurobiology of FMR1 expanded alleles leading to targeted treatments for fragile X spectrum disorder

Author keywords

ASD treatments; Autism; Clinical trials; Fragile X Spectrum Disorder; Fragile X Syndrome; Fragile X associated Tremor Ataxia Syndrome; FXS; FXSD; FXTAS; GABA; GABA system; GABAA; Targeted treatments

Indexed keywords

3ALPHA HYDROXY 5ALPHA PREGNAN 20 ONE; 4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID A RECEPTOR; 4 AMINOBUTYRIC ACID RECEPTOR STIMULATING AGENT; ACAMPROSATE; ARBACLOFEN; FRAGILE X MENTAL RETARDATION PROTEIN; GABOXADOL; GANAXOLONE; RILUZOLE; FMR1 PROTEIN, HUMAN;

EID: 84947999161     PISSN: 13816128     EISSN: 18734286     Source Type: Journal    
DOI: 10.2174/1381612821666150914121038     Document Type: Article
Times cited : (21)

References (135)
  • 1
    • 33750283784 scopus 로고    scopus 로고
    • Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation
    • Farzin F, Perry H, Hessl D, et al. Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Develop Behav Pediatr 2006; 27(2 Suppl): S137-44.
    • (2006) J Develop Behav Pediatr , vol.27 , Issue.2 , pp. S137-S144
    • Farzin, F.1    Perry, H.2    Hessl, D.3
  • 2
    • 84860880500 scopus 로고    scopus 로고
    • Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder
    • Chonchaiya W, Au J, Schneider A, et al. Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet 2012; 131(4): 581-9.
    • (2012) Hum Genet , vol.131 , Issue.4 , pp. 581-589
    • Chonchaiya, W.1    Au, J.2    Schneider, A.3
  • 4
    • 84879794084 scopus 로고    scopus 로고
    • Fragile Xassociated tremor/ataxia syndrome (FXTAS) in grey zone carriers
    • Liu Y, Winarni TI, Zhang L, Tassone F, Hagerman RJ. Fragile Xassociated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet 2013; 84(1): 74-7.
    • (2013) Clin Genet , vol.84 , Issue.1 , pp. 74-77
    • Liu, Y.1    Winarni, T.I.2    Zhang, L.3    Tassone, F.4    Hagerman, R.J.5
  • 5
    • 84862250175 scopus 로고    scopus 로고
    • Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers
    • Hall D, Tassone F, Klepitskaya O, Leehey M. Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord 2012; 27(2): 296-300.
    • (2012) Mov Disord , vol.27 , Issue.2 , pp. 296-300
    • Hall, D.1    Tassone, F.2    Klepitskaya, O.3    Leehey, M.4
  • 6
    • 84862241820 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene
    • Loesch DZ, Sherwell S, Kinsella G, et al. Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clin Genet 2012; 82(1): 88-92.
    • (2012) Clin Genet , vol.82 , Issue.1 , pp. 88-92
    • Loesch, D.Z.1    Sherwell, S.2    Kinsella, G.3
  • 7
    • 84908227750 scopus 로고    scopus 로고
    • FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile
    • Santa Maria L, Pugin A, Alliende MA, et al. FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. Clin Genet 2014; 86(4): 378-82.
    • (2014) Clin Genet , vol.86 , Issue.4 , pp. 378-382
    • Santa Maria, L.1    Pugin, A.2    Alliende, M.A.3
  • 9
    • 0014517848 scopus 로고
    • A marker X chromosome
    • Lubs HA. A marker X chromosome. Am J Hum Genet 1969; 21(3): 231-44.
    • (1969) Am J Hum Genet , vol.21 , Issue.3 , pp. 231-244
    • Lubs, H.A.1
  • 10
    • 33748295575 scopus 로고    scopus 로고
    • Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP
    • Hatton DD, Sideris J, Skinner M, et al. Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP. Am J Med Genet A 2006; 140(17): 1804-13.
    • (2006) Am J Med Genet A , vol.140 , Issue.17 , pp. 1804-1813
    • Hatton, D.D.1    Sideris, J.2    Skinner, M.3
  • 11
    • 56649106246 scopus 로고    scopus 로고
    • Autism profiles of males with fragile X syndrome
    • Harris SW, Hessl D, Goodlin-Jones B, et al. Autism profiles of males with fragile X syndrome. Am J Ment Retard 2008; 113(6): 427-38.
    • (2008) Am J Ment Retard , vol.113 , Issue.6 , pp. 427-438
    • Harris, S.W.1    Hessl, D.2    Goodlin-Jones, B.3
  • 14
    • 0001966753 scopus 로고    scopus 로고
    • The physical and behavioral phenotype
    • Hagerman RJ, Hagerman PJ, Eds. 3rd ed. Baltimore: The Johns Hopkins University Press
    • Hagerman RJ. The physical and behavioral phenotype. In: Hagerman RJ, Hagerman PJ, Eds. Fragile X syndrome: Diagnosis, treatment, and research. 3rd ed. Baltimore: The Johns Hopkins University Press 2002; pp. 3-109.
    • (2002) Fragile X syndrome: Diagnosis, treatment, and research. , pp. 3-109
    • Hagerman, R.J.1
  • 17
    • 33846199099 scopus 로고    scopus 로고
    • Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory
    • Strom CM, Crossley B, Redman JB, et al. Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory. Genet Med 2007; 9(1): 46-51.
    • (2007) Genet Med , vol.9 , Issue.1 , pp. 46-51
    • Strom, C.M.1    Crossley, B.2    Redman, J.B.3
  • 18
    • 0034526068 scopus 로고    scopus 로고
    • Transcription of the FMR1 gene in individuals with fragile X syndrome
    • Tassone F, Hagerman RJ, Chamberlain WD, Hagerman PJ. Transcription of the FMR1 gene in individuals with fragile X syndrome. Am J Med Genet 2000; 97(3): 195-203.
    • (2000) Am J Med Genet , vol.97 , Issue.3 , pp. 195-203
    • Tassone, F.1    Hagerman, R.J.2    Chamberlain, W.D.3    Hagerman, P.J.4
  • 20
    • 77952304162 scopus 로고    scopus 로고
    • Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio
    • Godler DE, Tassone F, Loesch DZ, et al. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum Mol Genet 2010; 19(8): 1618-32.
    • (2010) Hum Mol Genet , vol.19 , Issue.8 , pp. 1618-1632
    • Godler, D.E.1    Tassone, F.2    Loesch, D.Z.3
  • 21
    • 0033612144 scopus 로고    scopus 로고
    • FMRP expression as a potential prognostic indicator in fragile X syndrome
    • Tassone F, Hagerman RJ, Ikle DN, et al. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 1999; 84(3): 250-61.
    • (1999) Am J Med Genet , vol.84 , Issue.3 , pp. 250-261
    • Tassone, F.1    Hagerman, R.J.2    Ikle, D.N.3
  • 22
    • 84886953546 scopus 로고    scopus 로고
    • The translation of translational control by FMRP: Therapeutic targets for FXS
    • Darnell JC, Klann E. The translation of translational control by FMRP: therapeutic targets for FXS. Nat Neurosci 2013; 16(11): 1530-6.
    • (2013) Nat Neurosci , vol.16 , Issue.11 , pp. 1530-1536
    • Darnell, J.C.1    Klann, E.2
  • 23
    • 84888788450 scopus 로고    scopus 로고
    • The FMRP regulon: From targets to disease convergence
    • Fernandez E, Rajan N, Bagni C. The FMRP regulon: from targets to disease convergence. Front Neurosci 2013; 7: 191.
    • (2013) Front Neurosci , vol.7 , pp. 191
    • Fernandez, E.1    Rajan, N.2    Bagni, C.3
  • 24
    • 17844372504 scopus 로고    scopus 로고
    • From mRNP trafficking to spine dysmorphogenesis: The roots of fragile X syndrome
    • Bagni C, Greenough WT. From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome. Nat Rev 2005; 6(5): 376-87.
    • (2005) Nat Rev , vol.6 , Issue.5 , pp. 376-387
    • Bagni, C.1    Greenough, W.T.2
  • 25
    • 77952372647 scopus 로고    scopus 로고
    • Short- and long-term memory are modulated by multiple isoforms of the fragile X mental retardation protein
    • Banerjee P, Schoenfeld BP, Bell AJ, et al. Short- and long-term memory are modulated by multiple isoforms of the fragile X mental retardation protein. J Neurosci 2010; 30(19): 6782-92.
    • (2010) J Neurosci , vol.30 , Issue.19 , pp. 6782-6792
    • Banerjee, P.1    Schoenfeld, B.P.2    Bell, A.J.3
  • 26
    • 84860112662 scopus 로고    scopus 로고
    • Evidence for a fragile X mental retardation protein-mediated translational switch in metabotropic glutamate receptor-triggered Arc translation and long-term depression
    • Niere F, Wilkerson JR, Huber KM. Evidence for a fragile X mental retardation protein-mediated translational switch in metabotropic glutamate receptor-triggered Arc translation and long-term depression. J Neurosci 2012; 32(17): 5924-36.
    • (2012) J Neurosci , vol.32 , Issue.17 , pp. 5924-5936
    • Niere, F.1    Wilkerson, J.R.2    Huber, K.M.3
  • 27
    • 74949102875 scopus 로고    scopus 로고
    • Dysregulation of mTOR signaling in fragile X syndrome
    • Sharma A, Hoeffer CA, Takayasu Y, et al. Dysregulation of mTOR signaling in fragile X syndrome. J Neurosci 2010; 30(2): 694-702.
    • (2010) J Neurosci , vol.30 , Issue.2 , pp. 694-702
    • Sharma, A.1    Hoeffer, C.A.2    Takayasu, Y.3
  • 28
    • 3042647610 scopus 로고    scopus 로고
    • The mGluR theory of fragile X mental retardation
    • Bear MF, Huber KM, Warren ST. The mGluR theory of fragile X mental retardation. Trends Neurosci 2004; 27(7): 370-77.
    • (2004) Trends Neurosci , vol.27 , Issue.7 , pp. 370-377
    • Bear, M.F.1    Huber, K.M.2    Warren, S.T.3
  • 29
    • 80555144762 scopus 로고    scopus 로고
    • Arbaclofen treatment is associated with global behavioral improvement in fragile X syndrome (FXS): Results of a randomized, controlled phase II trial
    • Wang L, Berry-Kravis E, Wang P, Rathmell B, Carpenter R, Bear M. Arbaclofen treatment is associated with global behavioral improvement in fragile X syndrome (FXS): results of a randomized, controlled phase II trial. J Dev Behav Pediatr. in press.
    • J Dev Behav Pediatr
    • Wang, L.1    Berry-Kravis, E.2    Wang, P.3    Rathmell, B.4    Carpenter, R.5    Bear, M.6
  • 30
    • 84907221070 scopus 로고    scopus 로고
    • Modulation of the GABAergic pathway for the treatment of fragile X syndrome
    • Lozano R, Hare EB, Hagerman RJ. Modulation of the GABAergic pathway for the treatment of fragile X syndrome. Neuropsychiatr Dis Treat 2014; 10: 1769-79.
    • (2014) Neuropsychiatr Dis Treat , vol.10 , pp. 1769-1779
    • Lozano, R.1    Hare, E.B.2    Hagerman, R.J.3
  • 33
    • 84876358587 scopus 로고    scopus 로고
    • A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome
    • Leigh MJ, Nguyen DV, Mu Y, et al. A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Develop Behav Pediatr 2013; 34(3): 147-55.
    • (2013) J Develop Behav Pediatr , vol.34 , Issue.3 , pp. 147-155
    • Leigh, M.J.1    Nguyen, D.V.2    Mu, Y.3
  • 35
  • 36
    • 34447621203 scopus 로고    scopus 로고
    • The GABAA receptor: A novel target for treatment of fragile X?
    • D'Hulst C, Kooy RF. The GABAA receptor: a novel target for treatment of fragile X? Trends Neurosci 2007; 30(8): 425-31.
    • (2007) Trends Neurosci , vol.30 , Issue.8 , pp. 425-431
    • D'Hulst, C.1    Kooy, R.F.2
  • 37
    • 77954851827 scopus 로고    scopus 로고
    • Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome
    • Olmos-Serrano JL, Paluszkiewicz SM, Martin BS, Kaufmann WE, Corbin JG, Huntsman MM. Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome. J Neurosci 2010; 30(29): 9929-38.
    • (2010) J Neurosci , vol.30 , Issue.29 , pp. 9929-9938
    • Olmos-Serrano, J.L.1    Paluszkiewicz, S.M.2    Martin, B.S.3    Kaufmann, W.E.4    Corbin, J.G.5    Huntsman, M.M.6
  • 38
    • 83055163327 scopus 로고    scopus 로고
    • Fragile X syndrome: The GABAergic system and circuit dysfunction
    • Paluszkiewicz SM, Martin BS, Huntsman MM. Fragile X syndrome: the GABAergic system and circuit dysfunction. Dev Neurosci 2011; 33(5): 349-64.
    • (2011) Dev Neurosci , vol.33 , Issue.5 , pp. 349-364
    • Paluszkiewicz, S.M.1    Martin, B.S.2    Huntsman, M.M.3
  • 39
    • 0041622691 scopus 로고    scopus 로고
    • Fragile X premutation in women with sporadic premature ovarian failure in Slovenia
    • Gersak K, Meden-Vrtovec H, Peterlin B. Fragile X premutation in women with sporadic premature ovarian failure in Slovenia. Hum Reprod 2003; 18(8): 1637-40.
    • (2003) Hum Reprod , vol.18 , Issue.8 , pp. 1637-1640
    • Gersak, K.1    Meden-Vrtovec, H.2    Peterlin, B.3
  • 41
    • 51749122389 scopus 로고    scopus 로고
    • Fragile X-associated primary ovarian insufficiency: Evidence for additional genetic contributions to severity
    • Hunter JE, Epstein MP, Tinker SW, Charen KH, Sherman SL. Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. Genet Epidemiol 2008; 32(6): 553-9.
    • (2008) Genet Epidemiol , vol.32 , Issue.6 , pp. 553-559
    • Hunter, J.E.1    Epstein, M.P.2    Tinker, S.W.3    Charen, K.H.4    Sherman, S.L.5
  • 43
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
    • Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001; 57(1): 127-30.
    • (2001) Neurology , vol.57 , Issue.1 , pp. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3
  • 44
    • 12144289389 scopus 로고    scopus 로고
    • Aging in individuals with the FMR1 mutation
    • Jacquemont S, Farzin F, Hall D, et al. Aging in individuals with the FMR1 mutation. Am J Ment Retard 2004; 109(2): 154-64.
    • (2004) Am J Ment Retard , vol.109 , Issue.2 , pp. 154-164
    • Jacquemont, S.1    Farzin, F.2    Hall, D.3
  • 45
    • 33845323746 scopus 로고    scopus 로고
    • Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: Two faces of FMR1
    • Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol 2007; 6(1): 45-55.
    • (2007) Lancet Neurol , vol.6 , Issue.1 , pp. 45-55
    • Jacquemont, S.1    Hagerman, R.J.2    Hagerman, P.J.3    Leehey, M.A.4
  • 46
    • 36749009300 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines
    • Berry-Kravis E, Abrams L, Coffey SM, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007; 22(14): 2018-30.
    • (2007) Mov Disord , vol.22 , Issue.14 , pp. 2018-2030
    • Berry-Kravis, E.1    Abrams, L.2    Coffey, S.M.3
  • 47
    • 0037384643 scopus 로고    scopus 로고
    • Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
    • Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003; 72(4): 869-78.
    • (2003) Am J Hum Genet , vol.72 , Issue.4 , pp. 869-878
    • Jacquemont, S.1    Hagerman, R.J.2    Leehey, M.3
  • 49
    • 34848862790 scopus 로고    scopus 로고
    • Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome
    • Hagerman RJ, Coffey SM, Maselli R, et al. Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. Am J Med Genet A 2007; 143(19): 2256-60.
    • (2007) Am J Med Genet A , vol.143 , Issue.19 , pp. 2256-2260
    • Hagerman, R.J.1    Coffey, S.M.2    Maselli, R.3
  • 50
    • 67649218764 scopus 로고    scopus 로고
    • A review of fragile X premutation disorders: Expanding the psychiatric perspective
    • Bourgeois JA, Coffey SM, Rivera SM, et al. A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry 2009; 70(6): 852-62.
    • (2009) J Clin Psychiatry , vol.70 , Issue.6 , pp. 852-862
    • Bourgeois, J.A.1    Coffey, S.M.2    Rivera, S.M.3
  • 51
    • 79951971920 scopus 로고    scopus 로고
    • Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers
    • Bourgeois JA, Seritan AL, Casillas EM, et al. Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers. J Clin Psychiatry 2011; 72(2): 175-82.
    • (2011) J Clin Psychiatry , vol.72 , Issue.2 , pp. 175-182
    • Bourgeois, J.A.1    Seritan, A.L.2    Casillas, E.M.3
  • 52
    • 42949147652 scopus 로고    scopus 로고
    • Expanded clinical phenotype of women with the FMR1 premutation
    • Coffey SM, Cook K, Tartaglia N, et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A 2008; 146A(8): 1009-16.
    • (2008) Am J Med Genet A , vol.146 A , Issue.8 , pp. 1009-1016
    • Coffey, S.M.1    Cook, K.2    Tartaglia, N.3
  • 53
    • 42249108884 scopus 로고    scopus 로고
    • Abnormal nerve conduction features in fragile X premutation carriers
    • Soontarapornchai K, Maselli R, Fenton-Farrell G, et al. Abnormal nerve conduction features in fragile X premutation carriers. Arch Neurol 2008; 65(4): 495-8.
    • (2008) Arch Neurol , vol.65 , Issue.4 , pp. 495-498
    • Soontarapornchai, K.1    Maselli, R.2    Fenton-Farrell, G.3
  • 54
    • 39049106972 scopus 로고    scopus 로고
    • Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome
    • Grigsby J, Brega AG, Engle K, et al. Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology 2008; 22(1): 48-60.
    • (2008) Neuropsychology , vol.22 , Issue.1 , pp. 48-60
    • Grigsby, J.1    Brega, A.G.2    Engle, K.3
  • 55
    • 84880359647 scopus 로고    scopus 로고
    • Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
    • Hagerman R, Hagerman P. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol 2013; 12(8): 786-98.
    • (2013) Lancet Neurol , vol.12 , Issue.8 , pp. 786-798
    • Hagerman, R.1    Hagerman, P.2
  • 56
    • 40649087410 scopus 로고    scopus 로고
    • A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes
    • Loesch DZ, Cook M, Litewka L, et al. A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes. J Med Genet 2008; 45(3): 179-81.
    • (2008) J Med Genet , vol.45 , Issue.3 , pp. 179-181
    • Loesch, D.Z.1    Cook, M.2    Litewka, L.3
  • 57
    • 33750335320 scopus 로고    scopus 로고
    • Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome
    • Cohen S, Masyn K, Adams J, et al. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology 2006; 67(8): 1426-31.
    • (2006) Neurology , vol.67 , Issue.8 , pp. 1426-1431
    • Cohen, S.1    Masyn, K.2    Adams, J.3
  • 58
    • 0036846189 scopus 로고    scopus 로고
    • Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
    • Brunberg JA, Jacquemont S, Hagerman RJ, et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol 2002; 23(10): 1757-66.
    • (2002) AJNR Am J Neuroradiol , vol.23 , Issue.10 , pp. 1757-1766
    • Brunberg, J.A.1    Jacquemont, S.2    Hagerman, R.J.3
  • 59
    • 79952164557 scopus 로고    scopus 로고
    • A voxel-based morphometry study of grey matter loss in fragile Xassociated tremor/ataxia syndrome
    • Hashimoto R, Javan AK, Tassone F, Hagerman RJ, Rivera SM. A voxel-based morphometry study of grey matter loss in fragile Xassociated tremor/ataxia syndrome. Brain 2011; 134(Pt 3): 863-78.
    • (2011) Brain , vol.134 , pp. 863-878
    • Hashimoto, R.1    Javan, A.K.2    Tassone, F.3    Hagerman, R.J.4    Rivera, S.M.5
  • 60
    • 84882434715 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome: Influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles
    • Wang JY, Hessl D, Schneider A, Tassone F, Hagerman RJ, Rivera SM. Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles. JAMA Neurol 2013; 70(8): 1022-9.
    • (2013) JAMA Neurol , vol.70 , Issue.8 , pp. 1022-1029
    • Wang, J.Y.1    Hessl, D.2    Schneider, A.3    Tassone, F.4    Hagerman, R.J.5    Rivera, S.M.6
  • 61
    • 84883553938 scopus 로고    scopus 로고
    • A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers
    • Wang JY, Hagerman RJ, Rivera SM. A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers. Mov Disord 2013; 28(9): 1278-84.
    • (2013) Mov Disord , vol.28 , Issue.9 , pp. 1278-1284
    • Wang, J.Y.1    Hagerman, R.J.2    Rivera, S.M.3
  • 62
    • 79959326132 scopus 로고    scopus 로고
    • Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene
    • Hashimoto R, Srivastava S, Tassone F, Hagerman RJ, Rivera SM. Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene. Mov Disord 2011; 26(7): 1329-36.
    • (2011) Mov Disord , vol.26 , Issue.7 , pp. 1329-1336
    • Hashimoto, R.1    Srivastava, S.2    Tassone, F.3    Hagerman, R.J.4    Rivera, S.M.5
  • 63
    • 34548209247 scopus 로고    scopus 로고
    • Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)
    • Adams JS, Adams PE, Nguyen D, et al. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology 2007; 69(9): 851-9.
    • (2007) Neurology , vol.69 , Issue.9 , pp. 851-859
    • Adams, J.S.1    Adams, P.E.2    Nguyen, D.3
  • 64
    • 77949854405 scopus 로고    scopus 로고
    • Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers
    • Adams PE, Adams JS, Nguyen DV, et al. Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. Am J Med Genet B Neuropsychiatr Genet 2010; 153B(3): 775-85.
    • (2010) Am J Med Genet B Neuropsychiatr Genet , vol.153 B , Issue.3 , pp. 775-785
    • Adams, P.E.1    Adams, J.S.2    Nguyen, D.V.3
  • 65
    • 84924126806 scopus 로고    scopus 로고
    • Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome
    • Ariza J, Steward C, Rueckert F, et al. Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome. Brain Res 2015; 1598: 88-96.
    • (2015) Brain Res , vol.1598 , pp. 88-96
    • Ariza, J.1    Steward, C.2    Rueckert, F.3
  • 66
    • 80054683411 scopus 로고    scopus 로고
    • Widespread noncentral nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice
    • Hunsaker MR, Greco CM, Spath MA, et al. Widespread noncentral nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol 2011; 122(4): 467-79.
    • (2011) Acta Neuropathol , vol.122 , Issue.4 , pp. 467-479
    • Hunsaker, M.R.1    Greco, C.M.2    Spath, M.A.3
  • 67
    • 30344473617 scopus 로고    scopus 로고
    • Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
    • Greco CM, Berman RF, Martin RM, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2006; 129(Pt 1): 243-55.
    • (2006) Brain , vol.129 , pp. 243-255
    • Greco, C.M.1    Berman, R.F.2    Martin, R.M.3
  • 68
    • 33947268037 scopus 로고    scopus 로고
    • Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome
    • Greco CM, Soontrapornchai K, Wirojanan J, Gould JE, Hagerman PJ, Hagerman RJ. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J Urol 2007; 177(4): 1434-7.
    • (2007) J Urol , vol.177 , Issue.4 , pp. 1434-1437
    • Greco, C.M.1    Soontrapornchai, K.2    Wirojanan, J.3    Gould, J.E.4    Hagerman, P.J.5    Hagerman, R.J.6
  • 69
    • 84929951206 scopus 로고    scopus 로고
    • Methadone use in a male with the FMRI premutation and FXTAS
    • Muzar Z, Lozano R, Schneider A, et al. Methadone use in a male with the FMRI premutation and FXTAS. Am J Med Genet A 2015; 167(6): 1354-9.
    • (2015) Am J Med Genet A , vol.167 , Issue.6 , pp. 1354-1359
    • Muzar, Z.1    Lozano, R.2    Schneider, A.3
  • 70
    • 85010089463 scopus 로고    scopus 로고
    • Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases
    • Muzar Z, Adams PE, Schneider A, Hagerman RJ, Lozano R. Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases. Intractable Rare Dis Res 2014; 3(4): 162-5.
    • (2014) Intractable Rare Dis Res , vol.3 , Issue.4 , pp. 162-165
    • Muzar, Z.1    Adams, P.E.2    Schneider, A.3    Hagerman, R.J.4    Lozano, R.5
  • 72
    • 84924977249 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome
    • Hagerman PJ, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome. Ann N Y Acad Sci 2015; 1338: 58-70.
    • (2015) Ann N Y Acad Sci , vol.1338 , pp. 58-70
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 73
    • 84929862816 scopus 로고    scopus 로고
    • White matter disease and cognitive impairment in FMR1 premutation carriers
    • Filley CM, Brown MS, Onderko K, et al. White matter disease and cognitive impairment in FMR1 premutation carriers. Neurology 2015.
    • (2015) Neurology
    • Filley, C.M.1    Brown, M.S.2    Onderko, K.3
  • 74
    • 84863511377 scopus 로고    scopus 로고
    • Clustered burst firing in FMR1 premutation hippocampal neurons: Amelioration with allopregnanolone
    • Cao Z, Hulsizer S, Tassone F, et al. Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone. Hum Mol Genet 2012; 21(13): 2923-35.
    • (2012) Hum Mol Genet , vol.21 , Issue.13 , pp. 2923-2935
    • Cao, Z.1    Hulsizer, S.2    Tassone, F.3
  • 75
    • 0032416442 scopus 로고    scopus 로고
    • Two isoforms of glutamate decarboxylase: Why?
    • Soghomonian JJ, Martin DL. Two isoforms of glutamate decarboxylase: why? Trends Pharmacol Sci 1998; 19(12): 500-5.
    • (1998) Trends Pharmacol Sci , vol.19 , Issue.12 , pp. 500-505
    • Soghomonian, J.J.1    Martin, D.L.2
  • 77
    • 84898646408 scopus 로고    scopus 로고
    • GABAA receptors containing rho1 subunits contribute to in vivo effects of ethanol in mice
    • Blednov YA, Benavidez JM, Black M, et al. GABAA receptors containing rho1 subunits contribute to in vivo effects of ethanol in mice. PLoS One 2014; 9(1): e85525.
    • (2014) PLoS One , vol.9 , Issue.1
    • Blednov, Y.A.1    Benavidez, J.M.2    Black, M.3
  • 78
    • 0033626427 scopus 로고    scopus 로고
    • GABAB receptors: A new paradigm in G protein signaling
    • Couve A, Moss SJ, Pangalos MN. GABAB receptors: a new paradigm in G protein signaling. Mol Cell Neurosci 2000; 16(4): 296- 312.
    • (2000) Mol Cell Neurosci , vol.16 , Issue.4 , pp. 296-312
    • Couve, A.1    Moss, S.J.2    Pangalos, M.N.3
  • 79
    • 0036259735 scopus 로고    scopus 로고
    • Alterations of amino acids and monoamine metabolism in male Fmr1 knockout mice: A putative animal model of the human fragile X mental retardation syndrome
    • Gruss M, Braun K. Alterations of amino acids and monoamine metabolism in male Fmr1 knockout mice: a putative animal model of the human fragile X mental retardation syndrome. Neural Plast 2001; 8(4): 285-98.
    • (2001) Neural Plast , vol.8 , Issue.4 , pp. 285-298
    • Gruss, M.1    Braun, K.2
  • 80
    • 83055168319 scopus 로고    scopus 로고
    • A metabolomic and systems biology perspective on the brain of the fragile X syndrome mouse model
    • Davidovic L, Navratil V, Bonaccorso CM, Catania MV, Bardoni B, Dumas ME. A metabolomic and systems biology perspective on the brain of the fragile X syndrome mouse model. Genome Res 2011; 21(12): 2190-202.
    • (2011) Genome Res , vol.21 , Issue.12 , pp. 2190-2202
    • Davidovic, L.1    Navratil, V.2    Bonaccorso, C.M.3    Catania, M.V.4    Bardoni, B.5    Dumas, M.E.6
  • 81
    • 33846238191 scopus 로고    scopus 로고
    • Major defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein
    • Selby L, Zhang C, Sun QQ. Major defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein. Neurosci Lett 2007; 412(3): 227-32.
    • (2007) Neurosci Lett , vol.412 , Issue.3 , pp. 227-232
    • Selby, L.1    Zhang, C.2    Sun, Q.Q.3
  • 82
    • 58249135425 scopus 로고    scopus 로고
    • Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)
    • D'Hulst C, Heulens I, Brouwer JR, et al. Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS). Brain Res 2009; 1253: 176-83.
    • (2009) Brain Res , vol.1253 , pp. 176-183
    • D'Hulst, C.1    Heulens, I.2    Brouwer, J.R.3
  • 83
    • 30744433092 scopus 로고    scopus 로고
    • Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model
    • Gantois I, Vandesompele J, Speleman F, et al. Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model. Neurobiology of disease 2006; 21(2): 346-57.
    • (2006) Neurobiology of disease , vol.21 , Issue.2 , pp. 346-357
    • Gantois, I.1    Vandesompele, J.2    Speleman, F.3
  • 84
    • 33750726094 scopus 로고    scopus 로고
    • Decreased expression of the GABAA receptor in fragile X syndrome
    • D'Hulst C, De Geest N, Reeve SP, et al. Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res 2006; 1121(1): 238-45.
    • (2006) Brain Res , vol.1121 , Issue.1 , pp. 238-245
    • D'Hulst, C.1    De Geest, N.2    Reeve, S.P.3
  • 85
    • 67649427508 scopus 로고    scopus 로고
    • Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome
    • Curia G, Papouin T, Seguela P, Avoli M. Downregulation of tonic GABAergic inhibition in a mouse model of fragile X syndrome. Cereb Cortex 2009; 19(7): 1515-20.
    • (2009) Cereb Cortex , vol.19 , Issue.7 , pp. 1515-1520
    • Curia, G.1    Papouin, T.2    Seguela, P.3    Avoli, M.4
  • 86
    • 84866144755 scopus 로고    scopus 로고
    • Downregulation of GABA(A) beta subunits is transcriptionally controlled by Fmr1p
    • Hong A, Zhang A, Ke Y, El Idrissi A, Shen CH. Downregulation of GABA(A) beta subunits is transcriptionally controlled by Fmr1p. J Mol Neurosci 2012; 46(2): 272-5.
    • (2012) J Mol Neurosci , vol.46 , Issue.2 , pp. 272-275
    • Hong, A.1    Zhang, A.2    Ke, Y.3    El Idrissi, A.4    Shen, C.H.5
  • 88
    • 77954143021 scopus 로고    scopus 로고
    • Early developmental alterations in GABAergic protein expression in fragile X knockout mice
    • Adusei DC, Pacey LK, Chen D, Hampson DR. Early developmental alterations in GABAergic protein expression in fragile X knockout mice. Neuropharmacology 2010; 59(3): 167-71.
    • (2010) Neuropharmacology , vol.59 , Issue.3 , pp. 167-171
    • Adusei, D.C.1    Pacey, L.K.2    Chen, D.3    Hampson, D.R.4
  • 89
    • 84887242022 scopus 로고    scopus 로고
    • Developmental changes in expression of inhibitory neuronal proteins in the Fragile X Syndrome mouse basolateral amygdala
    • Kratovac S, Corbin JG. Developmental changes in expression of inhibitory neuronal proteins in the Fragile X Syndrome mouse basolateral amygdala. Brain Res 2013; 1537: 69-78.
    • (2013) Brain Res , vol.1537 , pp. 69-78
    • Kratovac, S.1    Corbin, J.G.2
  • 90
    • 80052166631 scopus 로고    scopus 로고
    • Subchronic administration and combination metabotropic glutamate and GABAB receptor drug therapy in fragile X syndrome
    • Pacey LK, Tharmalingam S, Hampson DR. Subchronic administration and combination metabotropic glutamate and GABAB receptor drug therapy in fragile X syndrome. J Pharmacol Exp Ther 2011; 338(3): 897-905.
    • (2011) J Pharmacol Exp Ther , vol.338 , Issue.3 , pp. 897-905
    • Pacey, L.K.1    Tharmalingam, S.2    Hampson, D.R.3
  • 91
    • 30844459436 scopus 로고    scopus 로고
    • Gaboxadol--a new awakening in sleep
    • Wafford KA, Ebert B. Gaboxadol--a new awakening in sleep. Curr Opin Pharmacol 2006; 6(1): 30-6.
    • (2006) Curr Opin Pharmacol , vol.6 , Issue.1 , pp. 30-36
    • Wafford, K.A.1    Ebert, B.2
  • 92
    • 83055184199 scopus 로고    scopus 로고
    • The GABA(A) receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome
    • Olmos-Serrano JL, Corbin JG, Burns MP. The GABA(A) receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome. Dev Neurosci 2011; 33(5): 395-403.
    • (2011) Dev Neurosci , vol.33 , Issue.5 , pp. 395-403
    • Olmos-Serrano, J.L.1    Corbin, J.G.2    Burns, M.P.3
  • 93
    • 84856578911 scopus 로고    scopus 로고
    • Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model
    • Heulens I, D'Hulst C, Van Dam D, De Deyn PP, Kooy RF. Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model. Behav Brain Res 2012; 229(1): 244-9.
    • (2012) Behav Brain Res , vol.229 , Issue.1 , pp. 244-249
    • Heulens, I.1    D'Hulst, C.2    Van Dam, D.3    De Deyn, P.P.4    Kooy, R.F.5
  • 94
    • 84948004803 scopus 로고    scopus 로고
    • R-Baclofen Reverses a Social Behavior Deficit and Elevated Protein Synthesis in a Mouse Model of Fragile X Syndrome
    • Qin M, Huang T, Kader M, et al. R-Baclofen Reverses a Social Behavior Deficit and Elevated Protein Synthesis in a Mouse Model of Fragile X Syndrome. Int J Neuropsychopharmacol 2015.
    • (2015) Int J Neuropsychopharmacol
    • Qin, M.1    Huang, T.2    Kader, M.3
  • 95
    • 84866615813 scopus 로고    scopus 로고
    • Reversal of disease- related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen
    • Henderson C, Wijetunge L, Kinoshita MN, et al. Reversal of disease- related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen. Sci Transl Med 2012; 4(152): 152ra28.
    • (2012) Sci Transl Med , vol.4 , Issue.152
    • Henderson, C.1    Wijetunge, L.2    Kinoshita, M.N.3
  • 96
    • 0028149787 scopus 로고
    • Anticonvulsant activity of neurosteroids: Correlation with gamma-aminobutyric acidevoked chloride current potentiation
    • Kokate TG, Svensson BE, Rogawski MA. Anticonvulsant activity of neurosteroids: correlation with gamma-aminobutyric acidevoked chloride current potentiation. J Pharmacol Exp Ther 1994; 270(3): 1223-9.
    • (1994) J Pharmacol Exp Ther , vol.270 , Issue.3 , pp. 1223-1229
    • Kokate, T.G.1    Svensson, B.E.2    Rogawski, M.A.3
  • 97
    • 0031888527 scopus 로고    scopus 로고
    • Reversal of behavioral effects of pentylenetetrazol by the neuroactive steroid ganaxolone
    • Beekman M, Ungard JT, Gasior M, et al. Reversal of behavioral effects of pentylenetetrazol by the neuroactive steroid ganaxolone. J Pharmacol Exp Ther 1998; 284(3): 868-77.
    • (1998) J Pharmacol Exp Ther , vol.284 , Issue.3 , pp. 868-877
    • Beekman, M.1    Ungard, J.T.2    Gasior, M.3
  • 98
    • 14444270606 scopus 로고    scopus 로고
    • Characterization of the anticonvulsant properties of ganaxolone (CCD 1042; 3alphahydroxy- 3beta-methyl-5alpha-pregnan-20-one), a selective, highaffinity, steroid modulator of the gamma-aminobutyric acid(A) receptor
    • Carter RB, Wood PL, Wieland S, et al. Characterization of the anticonvulsant properties of ganaxolone (CCD 1042; 3alphahydroxy- 3beta-methyl-5alpha-pregnan-20-one), a selective, highaffinity, steroid modulator of the gamma-aminobutyric acid(A) receptor. J Pharmacol Exp Ther 1997; 280(3): 1284-95.
    • (1997) J Pharmacol Exp Ther , vol.280 , Issue.3 , pp. 1284-1295
    • Carter, R.B.1    Wood, P.L.2    Wieland, S.3
  • 99
    • 54749111088 scopus 로고    scopus 로고
    • Acamprosate: Recent findings and future research directions
    • Mann K, Kiefer F, Spanagel R, Littleton J. Acamprosate: recent findings and future research directions. Alcohol Clin Exp Res 2008; 32(7): 1105-10.
    • (2008) Alcohol Clin Exp Res , vol.32 , Issue.7 , pp. 1105-1110
    • Mann, K.1    Kiefer, F.2    Spanagel, R.3    Littleton, J.4
  • 100
    • 2542484516 scopus 로고    scopus 로고
    • Biphasic effect of acamprosate on NMDA but not on GABAA receptors in spontaneous rhythmic activity from the isolated neonatal rat respiratory network
    • Pierrefiche O, Daoust M, Naassila M. Biphasic effect of acamprosate on NMDA but not on GABAA receptors in spontaneous rhythmic activity from the isolated neonatal rat respiratory network. Neuropharmacology 2004; 47(1): 35-45.
    • (2004) Neuropharmacology , vol.47 , Issue.1 , pp. 35-45
    • Pierrefiche, O.1    Daoust, M.2    Naassila, M.3
  • 102
    • 84879238323 scopus 로고    scopus 로고
    • Impact of acamprosate on behavior and brain-derived neurotrophic factor: An open-label study in youth with fragile X syndrome
    • Erickson CA, Wink LK, Ray B, et al. Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome. Psychopharmacology (Berl) 2013; 228(1): 75-84.
    • (2013) Psychopharmacology (Berl) , vol.228 , Issue.1 , pp. 75-84
    • Erickson, C.A.1    Wink, L.K.2    Ray, B.3
  • 103
    • 84866628742 scopus 로고    scopus 로고
    • Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: A randomized, controlled, phase 2 trial
    • Berry-Kravis EM, Hessl D, Rathmell B, et al. Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med 2012; 4(152): 152ra27.
    • (2012) Sci Transl Med , vol.4 , Issue.152
    • Berry-Kravis, E.M.1    Hessl, D.2    Rathmell, B.3
  • 104
    • 84896405056 scopus 로고    scopus 로고
    • STX209 (arbaclofen) for autism spectrum disorders: An 8-week open-label study
    • Erickson CA, Veenstra-Vanderweele JM, Melmed RD, et al. STX209 (arbaclofen) for autism spectrum disorders: an 8-week open-label study. J Autism Dev Disord 2014; 44(4): 958-64.
    • (2014) J Autism Dev Disord , vol.44 , Issue.4 , pp. 958-964
    • Erickson, C.A.1    Veenstra-Vanderweele, J.M.2    Melmed, R.D.3
  • 106
    • 84948004805 scopus 로고    scopus 로고
    • Progress and hurdles in development of targeted treatments for fragile X syndrome
    • May 13-16, Salt Lake City, UT
    • Berry-Kravis E. Progress and hurdles in development of targeted treatments for fragile X syndrome. International Meeting for Autism Research (IMFAR); May 13-16, 2015; Salt Lake City, UT.
    • (2015) International Meeting for Autism Research (IMFAR)
    • Berry-Kravis, E.1
  • 107
    • 84875420499 scopus 로고    scopus 로고
    • Neurosteroids as regenerative agents in the brain: Therapeutic implications
    • Brinton RD. Neurosteroids as regenerative agents in the brain: therapeutic implications. Nat Rev Endocrinol 2013; 9(4): 241-50.
    • (2013) Nat Rev Endocrinol , vol.9 , Issue.4 , pp. 241-250
    • Brinton, R.D.1
  • 108
    • 84861882571 scopus 로고    scopus 로고
    • Allopregnanolone restores hippocampal- dependent learning and memory and neural progenitor survival in aging 3xTgAD and nonTg mice
    • Singh C, Liu L, Wang JM, et al. Allopregnanolone restores hippocampal- dependent learning and memory and neural progenitor survival in aging 3xTgAD and nonTg mice. Neurobiol Aging 2012; 33(8): 1493-506.
    • (2012) Neurobiol Aging , vol.33 , Issue.8 , pp. 1493-1506
    • Singh, C.1    Liu, L.2    Wang, J.M.3
  • 109
    • 0347418151 scopus 로고    scopus 로고
    • Allopregnanolone and progesterone decrease cell death and cognitive deficits after a contusion of the rat pre-frontal cortex
    • Djebaili M, Hoffman SW, Stein DG. Allopregnanolone and progesterone decrease cell death and cognitive deficits after a contusion of the rat pre-frontal cortex. Neuroscience 2004; 123(2): 349-59.
    • (2004) Neuroscience , vol.123 , Issue.2 , pp. 349-359
    • Djebaili, M.1    Hoffman, S.W.2    Stein, D.G.3
  • 110
    • 12544255204 scopus 로고    scopus 로고
    • The neurosteroids progesterone and allopregnanolone reduce cell death, gliosis, and functional deficits after traumatic brain injury in rats
    • Djebaili M, Guo Q, Pettus EH, Hoffman SW, Stein DG. The neurosteroids progesterone and allopregnanolone reduce cell death, gliosis, and functional deficits after traumatic brain injury in rats. J Neurotrauma 2005; 22(1): 106-18.
    • (2005) J Neurotrauma , vol.22 , Issue.1 , pp. 106-118
    • Djebaili, M.1    Guo, Q.2    Pettus, E.H.3    Hoffman, S.W.4    Stein, D.G.5
  • 111
    • 61849137768 scopus 로고    scopus 로고
    • Direct inhibition of the mitochondrial permeability transition pore: A possible mechanism for better neuroprotective effects of allopregnanolone over progesterone
    • Sayeed I, Parvez S, Wali B, Siemen D, Stein DG. Direct inhibition of the mitochondrial permeability transition pore: a possible mechanism for better neuroprotective effects of allopregnanolone over progesterone. Brain Res 2009; 1263: 165-73.
    • (2009) Brain Res , vol.1263 , pp. 165-173
    • Sayeed, I.1    Parvez, S.2    Wali, B.3    Siemen, D.4    Stein, D.G.5
  • 112
    • 34548264782 scopus 로고    scopus 로고
    • Aberrant excitatory neuronal activity and compensatory remodeling of inhibitory hippocampal circuits in mouse models of Alzheimer's disease
    • Palop JJ, Chin J, Roberson ED, et al. Aberrant excitatory neuronal activity and compensatory remodeling of inhibitory hippocampal circuits in mouse models of Alzheimer's disease. Neuron 2007; 55(5): 697-711.
    • (2007) Neuron , vol.55 , Issue.5 , pp. 697-711
    • Palop, J.J.1    Chin, J.2    Roberson, E.D.3
  • 113
    • 84863195737 scopus 로고    scopus 로고
    • Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS
    • Tassone F, Greco CM, Hunsaker MR, et al. Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav 2012; 11(5): 577-85.
    • (2012) Genes Brain Behav , vol.11 , Issue.5 , pp. 577-585
    • Tassone, F.1    Greco, C.M.2    Hunsaker, M.R.3
  • 114
    • 18644371723 scopus 로고    scopus 로고
    • The neurosteroid allopregnanolone promotes proliferation of rodent and human neural progenitor cells and regulates cell-cycle gene and protein expression
    • Wang JM, Johnston PB, Ball BG, Brinton RD. The neurosteroid allopregnanolone promotes proliferation of rodent and human neural progenitor cells and regulates cell-cycle gene and protein expression. J Neurosci 2005; 25(19): 4706-18.
    • (2005) J Neurosci , vol.25 , Issue.19 , pp. 4706-4718
    • Wang, J.M.1    Johnston, P.B.2    Ball, B.G.3    Brinton, R.D.4
  • 115
    • 77950868172 scopus 로고    scopus 로고
    • Allopregnanolone reverses neurogenic and cognitive deficits in mouse model of Alzheimer's disease
    • Wang JM, Singh C, Liu L, et al. Allopregnanolone reverses neurogenic and cognitive deficits in mouse model of Alzheimer's disease. Proc Natl Acad Sci USA 2010; 107(14): 6498-503.
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.14 , pp. 6498-6503
    • Wang, J.M.1    Singh, C.2    Liu, L.3
  • 116
    • 80052279560 scopus 로고    scopus 로고
    • Allopregnanolone Promotes Regeneration and Reduces beta-Amyloid Burden in a Preclinical Model of Alzheimer's Disease
    • Chen S, Wang JM, Irwin RW, Yao J, Liu L, Brinton RD. Allopregnanolone Promotes Regeneration and Reduces beta-Amyloid Burden in a Preclinical Model of Alzheimer's Disease. PLoS One 2011; 6(8): e24293.
    • (2011) PLoS One , vol.6 , Issue.8
    • Chen, S.1    Wang, J.M.2    Irwin, R.W.3    Yao, J.4    Liu, L.5    Brinton, R.D.6
  • 117
    • 84898752958 scopus 로고    scopus 로고
    • Memantine for fragile XAssociated Tremor/Ataxia Syndrome: A Randomized, Double- Blind, Placebo-Controlled Trial
    • Seritan AL, Nguyen DV, Mu Y, et al. Memantine for fragile XAssociated Tremor/Ataxia Syndrome: A Randomized, Double- Blind, Placebo-Controlled Trial. J Clin Psychiatry 2014; 75(3): 264-71.
    • (2014) J Clin Psychiatry , vol.75 , Issue.3 , pp. 264-271
    • Seritan, A.L.1    Nguyen, D.V.2    Mu, Y.3
  • 118
    • 78649361562 scopus 로고    scopus 로고
    • Neurosteroids: Endogenous role in the human brain and therapeutic potentials
    • Reddy DS. Neurosteroids: endogenous role in the human brain and therapeutic potentials. Prog Brain Res 2010; 186: 113-37.
    • (2010) Prog Brain Res , vol.186 , pp. 113-137
    • Reddy, D.S.1
  • 119
    • 0032846421 scopus 로고    scopus 로고
    • Ganaxolone: A novel positive allosteric modulator of the GABA(A) receptor complex for the treatment of epilepsy
    • Monaghan EP, McAuley JW, Data JL. Ganaxolone: a novel positive allosteric modulator of the GABA(A) receptor complex for the treatment of epilepsy. Expert Opin Investig Drugs 1999; 8(10): 1663-71.
    • (1999) Expert Opin Investig Drugs , vol.8 , Issue.10 , pp. 1663-1671
    • Monaghan, E.P.1    McAuley, J.W.2    Data, J.L.3
  • 120
    • 11144284666 scopus 로고    scopus 로고
    • Anxiolytic activity of progesterone in progesterone receptor knockout mice
    • Reddy DS, O'Malley BW, Rogawski MA. Anxiolytic activity of progesterone in progesterone receptor knockout mice. Neuropharmacology 2005; 48(1): 14-24.
    • (2005) Neuropharmacology , vol.48 , Issue.1 , pp. 14-24
    • Reddy, D.S.1    O'Malley, B.W.2    Rogawski, M.A.3
  • 121
    • 3142777130 scopus 로고    scopus 로고
    • Pharmacology of endogenous neuroactive steroids
    • Reddy DS. Pharmacology of endogenous neuroactive steroids. Crit Rev Neurobiol 2003; 15(3-4): 197-234.
    • (2003) Crit Rev Neurobiol , vol.15 , Issue.3-4 , pp. 197-234
    • Reddy, D.S.1
  • 122
    • 0033759542 scopus 로고    scopus 로고
    • Ganaxolone for treating intractable infantile spasms: A multicenter, open-label, addon trial
    • Kerrigan JF, Shields WD, Nelson TY, et al. Ganaxolone for treating intractable infantile spasms: a multicenter, open-label, addon trial. Epilepsy Res 2000; 42(2-3): 133-9.
    • (2000) Epilepsy Res , vol.42 , Issue.2-3 , pp. 133-139
    • Kerrigan, J.F.1    Shields, W.D.2    Nelson, T.Y.3
  • 123
    • 0033821412 scopus 로고    scopus 로고
    • Assessment of ganaxolone's anticonvulsant activity using a randomized, double-blind, presurgical trial design. Ganaxolone Presurgical Study Group
    • Laxer K, Blum D, Abou-Khalil BW, et al. Assessment of ganaxolone's anticonvulsant activity using a randomized, double-blind, presurgical trial design. Ganaxolone Presurgical Study Group. Epilepsia 2000; 41(9): 1187-94.
    • (2000) Epilepsia , vol.41 , Issue.9 , pp. 1187-1194
    • Laxer, K.1    Blum, D.2    Abou-Khalil, B.W.3
  • 124
    • 0030869099 scopus 로고    scopus 로고
    • Initial human experience with ganaxolone, a neuroactive steroid with antiepileptic activity
    • Monaghan EP, Navalta LA, Shum L, Ashbrook DW, Lee DA. Initial human experience with ganaxolone, a neuroactive steroid with antiepileptic activity. Epilepsia 1997; 38(9): 1026-31.
    • (1997) Epilepsia , vol.38 , Issue.9 , pp. 1026-1031
    • Monaghan, E.P.1    Navalta, L.A.2    Shum, L.3    Ashbrook, D.W.4    Lee, D.A.5
  • 125
    • 78650178478 scopus 로고    scopus 로고
    • Progress report on new antiepileptic drugs: A summary of the Tenth Eilat Conference (EILAT X)
    • Bialer M, Johannessen SI, Levy RH, Perucca E, Tomson T, White HS. Progress report on new antiepileptic drugs: a summary of the Tenth Eilat Conference (EILAT X). Epilepsy Res 2010; 92(2-3): 89-124.
    • (2010) Epilepsy Res , vol.92 , Issue.2-3 , pp. 89-124
    • Bialer, M.1    Johannessen, S.I.2    Levy, R.H.3    Perucca, E.4    Tomson, T.5    White, H.S.6
  • 126
    • 33846194013 scopus 로고    scopus 로고
    • Progress report on new antiepileptic drugs: A summary of the Eighth Eilat Conference (EILAT VIII)
    • Bialer M, Johannessen SI, Kupferberg HJ, Levy RH, Perucca E, Tomson T. Progress report on new antiepileptic drugs: a summary of the Eighth Eilat Conference (EILAT VIII). Epilepsy Res 2007; 73(1): 1-52.
    • (2007) Epilepsy Res , vol.73 , Issue.1 , pp. 1-52
    • Bialer, M.1    Johannessen, S.I.2    Kupferberg, H.J.3    Levy, R.H.4    Perucca, E.5    Tomson, T.6
  • 128
    • 77949377354 scopus 로고    scopus 로고
    • Riluzole in cerebellar ataxia: A randomized, double-blind, placebo-controlled pilot trial
    • Ristori G, Romano S, Visconti A, et al. Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial. Neurology 2010; 74(10): 839-45.
    • (2010) Neurology , vol.74 , Issue.10 , pp. 839-845
    • Ristori, G.1    Romano, S.2    Visconti, A.3
  • 129
    • 79952315316 scopus 로고    scopus 로고
    • Open-label riluzole in fragile X syndrome
    • Erickson CA, Weng N, Weiler IJ, et al. Open-label riluzole in fragile X syndrome. Brain Res 2011; 1380: 264-70.
    • (2011) Brain Res , vol.1380 , pp. 264-270
    • Erickson, C.A.1    Weng, N.2    Weiler, I.J.3
  • 130
    • 59449085928 scopus 로고    scopus 로고
    • Advances in the treatment of fragile X syndrome
    • Hagerman RJ, Berry-Kravis E, Kaufmann WE, et al. Advances in the treatment of fragile X syndrome. Pediatrics 2009; 123(1): 378- 90.
    • (2009) Pediatrics , vol.123 , Issue.1 , pp. 378-390
    • Hagerman, R.J.1    Berry-Kravis, E.2    Kaufmann, W.E.3
  • 132
    • 84924958298 scopus 로고    scopus 로고
    • Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers
    • Polussa J, Schneider A, Hagerman R. Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers. Brain Disord Ther 2014; 3.
    • (2014) Brain Disord Ther , pp. 3
    • Polussa, J.1    Schneider, A.2    Hagerman, R.3
  • 133
    • 84896400422 scopus 로고    scopus 로고
    • Mechanism-based treatments in neurodevelopmental disorders: Fragile X syndrome
    • Berry-Kravis E. Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome. Pediatr Neurol 2014; 50(4): 297- 302.
    • (2014) Pediatr Neurol , vol.50 , Issue.4 , pp. 297-302
    • Berry-Kravis, E.1
  • 135
    • 84872256489 scopus 로고    scopus 로고
    • Cannabidiol for neurodegenerative disorders: Important new clinical applications for this phytocannabinoid?
    • Fernandez-Ruiz J, Sagredo O, Pazos MR, et al. Cannabidiol for neurodegenerative disorders: important new clinical applications for this phytocannabinoid? Br J Clin Pharmacol 2013; 75(2): 323- 33.
    • (2013) Br J Clin Pharmacol , vol.75 , Issue.2 , pp. 323-333
    • Fernandez-Ruiz, J.1    Sagredo, O.2    Pazos, M.R.3


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