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Volumn 4, Issue 1, 2012, Pages 1-12

Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed

Author keywords

FMR1; Psychomotor performance; X linked genetic disease

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CARRIER; FRAGILE X PREMUTATION CARRIER; FRAGILE X SYNDROME; HUMAN; INDIVIDUALIZATION; INTELLIGENCE QUOTIENT; MALE; PRIORITY JOURNAL; REACTION TIME; TASK PERFORMANCE; VELOCITY; VISUAL SYSTEM;

EID: 84881230462     PISSN: 18661947     EISSN: 18661955     Source Type: Journal    
DOI: 10.1186/1866-1955-4-26     Document Type: Article
Times cited : (16)

References (63)
  • 1
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk A, Pieretti M, Sutcliffe JS, Fu YH, Kuhl D, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991, 65(5):905-914.
    • (1991) Cell , vol.65 , Issue.5 , pp. 905-914
    • Verkerk, A.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.5    Pizzuti, A.6    Reiner, O.7    Richards, S.8    Victoria, M.F.9    Zhang, F.10
  • 2
    • 53849110899 scopus 로고    scopus 로고
    • Fragile X syndrome: Loss of local mRNA regulation alters synaptic development and function
    • Bassell GJ, Warren ST: Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 2008, 60(2):201-214.
    • (2008) Neuron , vol.60 , Issue.2 , pp. 201-214
    • Bassell, G.J.1    Warren, S.T.2
  • 3
    • 0041317041 scopus 로고    scopus 로고
    • Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis
    • Loesch DZ, Huggins RM, Bui QM, Taylor AK, Pratt C, Epstein J, Hagerman RJ: Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis. Am J Med Gen A 2003, 122A(1):13-23.
    • (2003) Am J Med Gen A , vol.122 A , Issue.1 , pp. 13-23
    • Loesch, D.Z.1    Huggins, R.M.2    Bui, Q.M.3    Taylor, A.K.4    Pratt, C.5    Epstein, J.6    Hagerman, R.J.7
  • 4
    • 2342635196 scopus 로고    scopus 로고
    • The fragile-X premutation: A maturing perspective
    • Hagerman PJ, Hagerman RJ: The fragile-X premutation: a maturing perspective. Am J Med Gen 2004, 74(5):805-816.
    • (2004) Am J Med Gen , vol.74 , Issue.5 , pp. 805-816
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 5
    • 50049086691 scopus 로고    scopus 로고
    • The fragile X prevalence paradox
    • Hagerman PJ: The fragile X prevalence paradox. J Med Genet 2008, 45(8):498-499.
    • (2008) J Med Genet , vol.45 , Issue.8 , pp. 498-499
    • Hagerman, P.J.1
  • 8
    • 25844487226 scopus 로고    scopus 로고
    • Diseases of unstable repeat expansion: Mechanisms and common principles
    • Gatchel JR, Zoghbi HY: Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 2005, 6(10):743-755.
    • (2005) Nat Rev Genet , vol.6 , Issue.10 , pp. 743-755
    • Gatchel, J.R.1    Zoghbi, H.Y.2
  • 9
    • 0027482074 scopus 로고
    • Neurobehavioral effects of the fragile X premutation in adult women: A controlled study
    • Reiss AL, Freund L, Abrams MT, Boehm C, Kazazian H: Neurobehavioral effects of the fragile X premutation in adult women: a controlled study. Am J Hum Genet 1993, 5:884-894.
    • (1993) Am J Hum Genet , vol.5 , pp. 884-894
    • Reiss, A.L.1    Freund, L.2    Abrams, M.T.3    Boehm, C.4    Kazazian, H.5
  • 10
    • 0029944233 scopus 로고    scopus 로고
    • Neuropsychological profiles of three sisters homozygous for the fragile X premutation
    • Mazzocco MM, Holden JJ: Neuropsychological profiles of three sisters homozygous for the fragile X premutation. Am J Med Genet 1996, 64(2):323-328.
    • (1996) Am J Med Genet , vol.64 , Issue.2 , pp. 323-328
    • Mazzocco, M.M.1    Holden, J.J.2
  • 11
    • 0035675368 scopus 로고    scopus 로고
    • No widespread psychological effect of the fragile X premutation in childhood: Evidence from a preliminary controlled study
    • Myers GF, Mazzocco MM, Maddalena A, Reiss AL: No widespread psychological effect of the fragile X premutation in childhood: evidence from a preliminary controlled study. J Dev Behav Pediatr 2001, 22(6):353-359.
    • (2001) J Dev Behav Pediatr , vol.22 , Issue.6 , pp. 353-359
    • Myers, G.F.1    Mazzocco, M.M.2    Maddalena, A.3    Reiss, A.L.4
  • 13
    • 0028340191 scopus 로고
    • Apparently enhanced visual information processing in female fragile X carriers: Preliminary findings
    • Steyaert J, Borghgraef M, Fryns JP: Apparently enhanced visual information processing in female fragile X carriers: preliminary findings. Am J Med Genet 1994, 51(4):374-377.
    • (1994) Am J Med Genet , vol.51 , Issue.4 , pp. 374-377
    • Steyaert, J.1    Borghgraef, M.2    Fryns, J.P.3
  • 17
    • 79955780242 scopus 로고    scopus 로고
    • Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome
    • Allen EG, Hunter JE, Rusin M, Juncos J, Novak G, Hamilton D, Shubeck L, Charen K, Sherman SL: Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome. Neuropsychology 2011, 25(3):404-411.
    • (2011) Neuropsychology , vol.25 , Issue.3 , pp. 404-411
    • Allen, E.G.1    Hunter, J.E.2    Rusin, M.3    Juncos, J.4    Novak, G.5    Hamilton, D.6    Shubeck, L.7    Charen, K.8    Sherman, S.L.9
  • 20
    • 80055074162 scopus 로고    scopus 로고
    • Selective executive markers of at-risk profiles associated with the fragile X premutation
    • Cornish K, Hocking D, Moss S: Selective executive markers of at-risk profiles associated with the fragile X premutation. Neurology 2011, 77(7):618-622.
    • (2011) Neurology , vol.77 , Issue.7 , pp. 618-622
    • Cornish, K.1    Hocking, D.2    Moss, S.3
  • 21
    • 0034537428 scopus 로고    scopus 로고
    • Nature of the working memory deficit in fragile-X syndrome
    • Munir F, Cornish KM, Wilding J: Nature of the working memory deficit in fragile-X syndrome. Brain Cogn 2000, 44(3):387-401.
    • (2000) Brain Cogn , vol.44 , Issue.3 , pp. 387-401
    • Munir, F.1    Cornish, K.M.2    Wilding, J.3
  • 23
    • 77954029330 scopus 로고    scopus 로고
    • Mapping self-reports of working memory deficits to executive dysfunction in fragile X mental retardation 1 (FMR1) gene premutation carriers asymptomatic for FXTAS
    • Kogan CS, Cornish KM: Mapping self-reports of working memory deficits to executive dysfunction in fragile X mental retardation 1 (FMR1) gene premutation carriers asymptomatic for FXTAS. Brain Cogn 2010, 73(3):236-243.
    • (2010) Brain Cogn , vol.73 , Issue.3 , pp. 236-243
    • Kogan, C.S.1    Cornish, K.M.2
  • 25
    • 84857959596 scopus 로고    scopus 로고
    • Selective spatial processing deficits in an at-risk subgroup of the fragile X premutation
    • Hocking DR, Kogan CS, Cornish KM: Selective spatial processing deficits in an at-risk subgroup of the fragile X premutation. Brain Cogn 2012, 79(1):39-44.
    • (2012) Brain Cogn , vol.79 , Issue.1 , pp. 39-44
    • Hocking, D.R.1    Kogan, C.S.2    Cornish, K.M.3
  • 26
    • 84863310075 scopus 로고    scopus 로고
    • Capturing the fragile X premutation phenotypes: A collaborative effort across multiple cohorts
    • Hunter JE, Sherman S, Grigsby J, Kogan C, Cornish K: Capturing the fragile X premutation phenotypes: A collaborative effort across multiple cohorts. Neuropsychology 2012, 26(2):156-164.
    • (2012) Neuropsychology , vol.26 , Issue.2 , pp. 156-164
    • Hunter, J.E.1    Sherman, S.2    Grigsby, J.3    Kogan, C.4    Cornish, K.5
  • 27
    • 79952164557 scopus 로고    scopus 로고
    • A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome
    • Hashimoto R, Javan AK, Tassone F, Hagerman RJ, Rivera SM: A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome. Brain 2011, 134(Pt 3):863-878.
    • (2011) Brain , vol.134 , Issue.Pt 3 , pp. 863-878
    • Hashimoto, R.1    Javan, A.K.2    Tassone, F.3    Hagerman, R.J.4    Rivera, S.M.5
  • 29
    • 0242467602 scopus 로고    scopus 로고
    • Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X
    • Loesch DZ, Bui QM, Grigsby J, Butler E, Epstein J, Huggins RM, Taylor AK, Hagerman RJ: Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X. Neuropsychology 2003, 17(4):646-657.
    • (2003) Neuropsychology , vol.17 , Issue.4 , pp. 646-657
    • Loesch, D.Z.1    Bui, Q.M.2    Grigsby, J.3    Butler, E.4    Epstein, J.5    Huggins, R.M.6    Taylor, A.K.7    Hagerman, R.J.8
  • 30
    • 1542723394 scopus 로고    scopus 로고
    • Frontostriatal deficits in fragile X syndrome: Relation to FMR1 gene expression
    • Menon V, Leroux J, White CD, Reiss AL: Frontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression. Proc Natl Acad Sci USA 2004, 101(10):3615-3620.
    • (2004) Proc Natl Acad Sci USA , vol.101 , Issue.10 , pp. 3615-3620
    • Menon, V.1    Leroux, J.2    White, C.D.3    Reiss, A.L.4
  • 31
    • 34249804167 scopus 로고    scopus 로고
    • Frontostriatal dysfunction and potential compensatory mechanisms in male adolescents with fragile X syndrome
    • Hoeft F, Hernandez A, Parthasarathy S, Watson CL, Hall SS, Reiss AL: Frontostriatal dysfunction and potential compensatory mechanisms in male adolescents with fragile X syndrome. Hum Brain Mapp 2007, 28(6):543-554.
    • (2007) Hum Brain Mapp , vol.28 , Issue.6 , pp. 543-554
    • Hoeft, F.1    Hernandez, A.2    Parthasarathy, S.3    Watson, C.L.4    Hall, S.S.5    Reiss, A.L.6
  • 35
    • 0025974956 scopus 로고
    • Cognitive profiles associated with the fra(X) syndrome in males and females
    • Freund LS, Reiss AL: Cognitive profiles associated with the fra(X) syndrome in males and females. Am J Med Genet 1991, 38(4):542-547.
    • (1991) Am J Med Genet , vol.38 , Issue.4 , pp. 542-547
    • Freund, L.S.1    Reiss, A.L.2
  • 37
    • 33744989718 scopus 로고    scopus 로고
    • Visuospatial skills and their association with math performance in girls with fragile X or Turner syndrome
    • Mazzocco MMM, Singh Bhatia N, Lesniak-Karpiak K: Visuospatial skills and their association with math performance in girls with fragile X or Turner syndrome. Child Neuropsychol 2006, 12(2):87-110.
    • (2006) Child Neuropsychol , vol.12 , Issue.2 , pp. 87-110
    • Mazzocco, M.M.M.1    Singh, B.N.2    Lesniak-Karpiak, K.3
  • 38
    • 0036320991 scopus 로고    scopus 로고
    • Functional brain activation during arithmetic processing in females with fragile X Syndrome is related to FMR1 protein expression
    • Rivera SM, Menon V, White CD, Glaser B, Reiss AL: Functional brain activation during arithmetic processing in females with fragile X Syndrome is related to FMR1 protein expression. Hum Brain Mapp 2002, 16(4):206-218.
    • (2002) Hum Brain Mapp , vol.16 , Issue.4 , pp. 206-218
    • Rivera, S.M.1    Menon, V.2    White, C.D.3    Glaser, B.4    Reiss, A.L.5
  • 41
    • 82955198526 scopus 로고    scopus 로고
    • Adult female fragile X premutation carriers exhibit age- and CGG repeat length-related impairments on an attentionally based enumeration task
    • Goodrich-Hunsaker NJ, Wong LM, McLennan Y, Tassone F, Harvey D, Rivera SM, Simon TJ: Adult female fragile X premutation carriers exhibit age- and CGG repeat length-related impairments on an attentionally based enumeration task. Front Hum Neurosci 2011, 5:63.
    • (2011) Front Hum Neurosci , vol.5 , pp. 63
    • Goodrich-Hunsaker, N.J.1    Wong, L.M.2    McLennan, Y.3    Tassone, F.4    Harvey, D.5    Rivera, S.M.6    Simon, T.J.7
  • 44
    • 59549094809 scopus 로고    scopus 로고
    • Visual pathway deficit in female fragile X premutation carriers: A potential endophenotype
    • Kéri S, Benedek G: Visual pathway deficit in female fragile X premutation carriers: a potential endophenotype. Brain Cogn 2009, 69(2):291-295.
    • (2009) Brain Cogn , vol.69 , Issue.2 , pp. 291-295
    • Kéri, S.1    Benedek, G.2
  • 45
    • 84857656692 scopus 로고    scopus 로고
    • Why is vision impaired in fragile X premutation carriers? The role of fragile X mental retardation protein and potential FMR1 mRNA toxicity
    • Kéri S, Benedek G: Why is vision impaired in fragile X premutation carriers? The role of fragile X mental retardation protein and potential FMR1 mRNA toxicity. Neuroscience 2012, 206:183-189.
    • (2012) Neuroscience , vol.206 , pp. 183-189
    • Kéri, S.1    Benedek, G.2
  • 46
    • 72249123025 scopus 로고    scopus 로고
    • Progressive spatial processing deficits in a mouse model of the fragile X premutation
    • Hunsaker MR, Wenzel HJ, Willemsen R, Berman RF: Progressive spatial processing deficits in a mouse model of the fragile X premutation. Behav Neurosci 2009, 123(6):1315-1324.
    • (2009) Behav Neurosci , vol.123 , Issue.6 , pp. 1315-1324
    • Hunsaker, M.R.1    Wenzel, H.J.2    Willemsen, R.3    Berman, R.F.4
  • 47
    • 77953917097 scopus 로고    scopus 로고
    • Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation
    • Hunsaker MR, Goodrich-Hunsaker NJ, Willemsen R, Berman RF: Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation. Behav Brain Res 2010, 213(2):263-268.
    • (2010) Behav Brain Res , vol.213 , Issue.2 , pp. 263-268
    • Hunsaker, M.R.1    Goodrich-Hunsaker, N.J.2    Willemsen, R.3    Berman, R.F.4
  • 48
    • 84861549089 scopus 로고    scopus 로고
    • Spatiotemporal processing deficits in female CGG KI mice modeling the fragile X premutation
    • Borthwell RM, Hunsaker MR, Willemsen R, Berman RF: Spatiotemporal processing deficits in female CGG KI mice modeling the fragile X premutation. Behav Brain Res 2012, 233(1):29-34.
    • (2012) Behav Brain Res , vol.233 , Issue.1 , pp. 29-34
    • Borthwell, R.M.1    Hunsaker, M.R.2    Willemsen, R.3    Berman, R.F.4
  • 51
    • 38749141432 scopus 로고    scopus 로고
    • A Rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the Fragile X (FMR1) gene in newborn and high-risk populations
    • Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ: A Rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the Fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 2008, 10(1):43-49.
    • (2008) J Mol Diagn , vol.10 , Issue.1 , pp. 43-49
    • Tassone, F.1    Pan, R.2    Amiri, K.3    Taylor, A.K.4    Hagerman, P.J.5
  • 52
    • 38149142406 scopus 로고    scopus 로고
    • Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes
    • Simon TJ, Takarae Y, DeBoer T, McDonald-McGinn DM, Zackai EH, Ross JL: Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes. Neuropsychologia 2008, 46(1):82-94.
    • (2008) Neuropsychologia , vol.46 , Issue.1 , pp. 82-94
    • Simon, T.J.1    Takarae, Y.2    Deboer, T.3    McDonald-McGinn, D.M.4    Zackai, E.H.5    Ross, J.L.6
  • 53
    • 0016513445 scopus 로고
    • Span and rate of apprehension in children and adults
    • Chi MTH, Klahr D: Span and rate of apprehension in children and adults. J Exp Child Psychol 1975, 19(3):434-439.
    • (1975) J Exp Child Psychol , vol.19 , Issue.3 , pp. 434-439
    • Chi, M.T.H.1    Klahr, D.2
  • 54
    • 0024983697 scopus 로고
    • Regression analyses of repeated measures data in cognitive research
    • Lorch RF, Myers JL: Regression analyses of repeated measures data in cognitive research. Jf Exp Psychol Learn Mem Cogn 1990, 16(1):149-157.
    • (1990) Jf Exp Psychol Learn Mem Cogn , vol.16 , Issue.1 , pp. 149-157
    • Lorch, R.F.1    Myers, J.L.2
  • 55
    • 0034256980 scopus 로고    scopus 로고
    • A neuropsychological profile of attention deficits in young males with fragile X syndrome
    • Munir F, Cornish KM, Wilding J: A neuropsychological profile of attention deficits in young males with fragile X syndrome. Neuropsychologia 2000, 38(9):1261-1270.
    • (2000) Neuropsychologia , vol.38 , Issue.9 , pp. 1261-1270
    • Munir, F.1    Cornish, K.M.2    Wilding, J.3
  • 56
    • 1142290746 scopus 로고    scopus 로고
    • Visual search in typically developing toddlers and toddlers with Fragile X or Williams syndrome
    • Scerif G, Cornish K, Wilding J, Driver J, Karmiloff-Smith A: Visual search in typically developing toddlers and toddlers with Fragile X or Williams syndrome. Dev Sci 2004, 7(1):116-130.
    • (2004) Dev Sci , vol.7 , Issue.1 , pp. 116-130
    • Scerif, G.1    Cornish, K.2    Wilding, J.3    Driver, J.4    Karmiloff-Smith, A.5
  • 57
    • 79955995196 scopus 로고    scopus 로고
    • DROSHA/DGCR8 sequestration by expanded CGG repeats leads to global micro-RNA processing alteration in FXTAS patients [abstract]
    • Sellier C, Hagerman P, Willemsen R, et al: DROSHA/DGCR8 sequestration by expanded CGG repeats leads to global micro-RNA processing alteration in FXTAS patients [abstract]. Detroit: 12th International Fragile X Conference; 2010.
    • (2010) Detroit: 12th International Fragile X Conference
    • Sellier, C.1    Hagerman, P.2    Willemsen, R.3
  • 59
    • 84872153352 scopus 로고    scopus 로고
    • Differential sensitivity to life stress in FMR1 premutation carrier mothers of children with fragile X syndrome
    • Seltzer MM, Barker ET, Greenberg JS, Hong J, Coe C, Almeida D: Differential sensitivity to life stress in FMR1 premutation carrier mothers of children with fragile X syndrome. Health Psychol 2012, 31:612-22.
    • (2012) Health Psychol , vol.31 , pp. 612-622
    • Seltzer, M.M.1    Barker, E.T.2    Greenberg, J.S.3    Hong, J.4    Coe, C.5    Almeida, D.6
  • 60
    • 31344455020 scopus 로고    scopus 로고
    • Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers
    • Ennis S, Ward D, Murray A: Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genet 2005, 14(2):253-255.
    • (2005) Eur J Hum Genet , vol.14 , Issue.2 , pp. 253-255
    • Ennis, S.1    Ward, D.2    Murray, A.3
  • 62
    • 14044268841 scopus 로고    scopus 로고
    • Association of FMR1 repeat size with ovarian dysfunction
    • Sullivan AK: Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 2004, 20(2):402-412.
    • (2004) Hum Reprod , vol.20 , Issue.2 , pp. 402-412
    • Sullivan, A.K.1
  • 63
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
    • Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ: Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 2000, 66(1):6-15.
    • (2000) Am J Hum Genet , vol.66 , Issue.1 , pp. 6-15
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3    Gane, L.W.4    Godfrey, T.E.5    Hagerman, P.J.6


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