메뉴 건너뛰기




Volumn 6, Issue 1, 2014, Pages

The cognitive neuropsychological phenotype of carriers of the FMR1 premutation

Author keywords

Cognition disorders; Executive function; FMR1; Fragile X; Fragile X premutation; Fragile X associated tremor ataxia syndrome; FXTAS

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; MEMANTINE;

EID: 84958120929     PISSN: 18661947     EISSN: 18661955     Source Type: Journal    
DOI: 10.1186/1866-1955-6-28     Document Type: Review
Times cited : (78)

References (89)
  • 1
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, Parkinsonism and generalized brain atrophy in older male carriers of fragile X
    • 1:STN:280:DC%2BD3MzptFejug%3D%3D 11445641
    • Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ: Intention tremor, Parkinsonism and generalized brain atrophy in older male carriers of fragile X. Neurology 2001, 57:127-130. 10.1212/WNL.57.1.127
    • (2001) Neurology , vol.57 , pp. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3    Tassone, F.4    Wilson, R.5    Hills, J.6    Grigsby, J.7    Gage, B.8    Hagerman, P.J.9
  • 6
    • 0034049815 scopus 로고    scopus 로고
    • Executive frontal functions
    • 1:STN:280:DC%2BD3M%2FktV2isg%3D%3D 10933211
    • Fuster JM: Executive frontal functions. Exp Brain Res 2000, 133:66-70. 10.1007/s002210000401
    • (2000) Exp Brain Res , vol.133 , pp. 66-70
    • Fuster, J.M.1
  • 7
    • 0032942099 scopus 로고    scopus 로고
    • From perception to action: temporal integrative functions of prefrontal and parietal neurons
    • 1:STN:280:DyaK1M3ot1SgsA%3D%3D
    • Quintana J, Fuster JM: From perception to action: temporal integrative functions of prefrontal and parietal neurons. Cereb Cortex 1999, 9:213-221. 10.1093/cercor/9.3.213
    • (1999) Cereb Cortex , vol.9 , pp. 213-221
    • Quintana, J.1    Fuster, J.M.2
  • 9
    • 0016823810 scopus 로고
    • Mini-mental state". A practical method for grading the cognitive state of patients for the clinician
    • 1:STN:280:DyaE28%2FntFKjtw%3D%3D
    • Folstein MF, Folstein SE, McHugh PR: "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychatr Res 1975, 12:189-198. 10.1016/0022-3956(75)90026-6
    • (1975) J Psychatr Res , vol.12 , pp. 189-198
    • Folstein, M.F.1    Folstein, S.E.2    McHugh, P.R.3
  • 11
    • 84875312134 scopus 로고    scopus 로고
    • Cognitive dysfunction in FMR1 premutation carriers
    • Seritan A, Cogswell J, Grigsby J: Cognitive dysfunction in FMR1 premutation carriers. Curr Psychiatr Rev 2012, 9:78-84.
    • (2012) Curr Psychiatr Rev , vol.9 , pp. 78-84
    • Seritan, A.1    Cogswell, J.2    Grigsby, J.3
  • 15
    • 4544259147 scopus 로고    scopus 로고
    • Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome
    • 15377747
    • Schmahmann JD: Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. J Neuropsychiatry Clin Neurosci 2004, 16:367-378.
    • (2004) J Neuropsychiatry Clin Neurosci , vol.16 , pp. 367-378
    • Schmahmann, J.D.1
  • 16
    • 54949136087 scopus 로고    scopus 로고
    • Cerebral white matter: Neuroanatomy, clinical neurology, and neurobehavioral correlates
    • 3753195 1:CAS:528:DC%2BD1cXhsV2hsb7K 18990132
    • Schmahmann JD, Smith EE, Eichler FS, Filley CM: Cerebral white matter: Neuroanatomy, clinical neurology, and neurobehavioral correlates. Ann N Y Acad Sci 2008, 1142:266-309. 10.1196/annals.1444.017
    • (2008) Ann N y Acad Sci , vol.1142 , pp. 266-309
    • Schmahmann, J.D.1    Smith, E.E.2    Eichler, F.S.3    Filley, C.M.4
  • 21
    • 0031800607 scopus 로고    scopus 로고
    • The behavioral neurology of cerebral white matter
    • 1:STN:280:DyaK1c3psFCnug%3D%3D 9633691
    • Filley CM: The behavioral neurology of cerebral white matter. Neurology 1998, 50:1535-1540. 10.1212/WNL.50.6.1535
    • (1998) Neurology , vol.50 , pp. 1535-1540
    • Filley, C.M.1
  • 27
    • 0038754166 scopus 로고    scopus 로고
    • Tremor and ataxia in fragile X premutation carriers: blinded videotape study
    • 1:CAS:528:DC%2BD3sXktVSntrY%3D 12730995
    • Berry-Kravis E, Lewin F, Wuu J, Leehey M, Hagerman R, Hagerman P, Goetz CG: Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol 2003, 53:616-623. 10.1002/ana.10522
    • (2003) Ann Neurol , vol.53 , pp. 616-623
    • Berry-Kravis, E.1    Lewin, F.2    Wuu, J.3    Leehey, M.4    Hagerman, R.5    Hagerman, P.6    Goetz, C.G.7
  • 33
    • 84875525598 scopus 로고    scopus 로고
    • Language dysfluencies in females with the FMR1 premutation
    • 3625470 23523717
    • Sterling AM, Mailick M, Greenberg J, Warren SF, Brady N: Language dysfluencies in females with the FMR1 premutation. Brain Cogn 2013, 82:84-89. 10.1016/j.bandc.2013.02.009
    • (2013) Brain Cogn , vol.82 , pp. 84-89
    • Sterling, A.M.1    Mailick, M.2    Greenberg, J.3    Warren, S.F.4    Brady, N.5
  • 36
    • 77951758220 scopus 로고    scopus 로고
    • Co-occurring diagnoses among FMR1 premutation allele carriers
    • 3696492 1:CAS:528:DC%2BC3cXlsFSrsb0%3D 20059484
    • Hunter JE, Rohr JK, Sherman SL: Co-occurring diagnoses among FMR1 premutation allele carriers. Clin Genet 2010, 77:374-381. 10.1111/j.1399-0004.2009.01317.x
    • (2010) Clin Genet , vol.77 , pp. 374-381
    • Hunter, J.E.1    Rohr, J.K.2    Sherman, S.L.3
  • 39
    • 77954752092 scopus 로고    scopus 로고
    • Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample
    • 20629912
    • Lachiewicz A, Dawson D, Spiridigliozzi G, Cuccaro M, Lachiewicz M, McConkie-Rosell A: Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample. J Intellect Disabil Res 2010, 54:597-610. 10.1111/j.1365-2788.2010.01290.x
    • (2010) J Intellect Disabil Res , vol.54 , pp. 597-610
    • Lachiewicz, A.1    Dawson, D.2    Spiridigliozzi, G.3    Cuccaro, M.4    Lachiewicz, M.5    McConkie-Rosell, A.6
  • 43
    • 33744744366 scopus 로고    scopus 로고
    • Absent event-related potential (ERP) word repetition effects in mild Alzheimer's disease
    • 1544116 16644278
    • Olichney JM, Iragui VJ, Salmon DP, Riggins BR, Morris SK, Kutas M: Absent event-related potential (ERP) word repetition effects in mild Alzheimer's disease. Clin Neurophysiol 2006, 117:1319-1330. 10.1016/j.clinph.2006.02.022
    • (2006) Clin Neurophysiol , vol.117 , pp. 1319-1330
    • Olichney, J.M.1    Iragui, V.J.2    Salmon, D.P.3    Riggins, B.R.4    Morris, S.K.5    Kutas, M.6
  • 44
  • 49
    • 44449102182 scopus 로고    scopus 로고
    • Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation
    • 1:STN:280:DC%2BD1czitl2mtA%3D%3D 18487560
    • Karmon Y, Gadoth N: Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation. J Neurol Neurosurg Psychiatry 2008, 79:738-739.
    • (2008) J Neurol Neurosurg Psychiatry , vol.79 , pp. 738-739
    • Karmon, Y.1    Gadoth, N.2
  • 50
    • 84859499358 scopus 로고    scopus 로고
    • Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome
    • 3044775 20961665
    • Schneider A, Ballinger E, Chavez A, Tassone F, Hagerman RJ, Hessl D: Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome. Neurobiol Aging 2012, 33:1045-1053. 10.1016/j.neurobiolaging.2010.09.002
    • (2012) Neurobiol Aging , vol.33 , pp. 1045-1053
    • Schneider, A.1    Ballinger, E.2    Chavez, A.3    Tassone, F.4    Hagerman, R.J.5    Hessl, D.6
  • 51
    • 80055074162 scopus 로고    scopus 로고
    • Selective executive markers of at-risk profiles associated with the fragile X premutation
    • 3159093 1:CAS:528:DC%2BC3MXhtVaksrvE 21775729
    • Cornish, Hocking DR, Moss SA, Kogan CS: Selective executive markers of at-risk profiles associated with the fragile X premutation. Neurology 2011, 77:618-622. 10.1212/WNL.0b013e3182299e59
    • (2011) Neurology , vol.77 , pp. 618-622
    • Cornish1    Hocking, D.R.2    Moss, S.A.3    Kogan, C.S.4
  • 52
    • 60849092523 scopus 로고    scopus 로고
    • Lifespan changes in working memory in fragile X premutation males
    • 4158922 19114290
    • Cornish, Kogan CS, Li L, Turk J, Jacquemont S, Hagerman RJ: Lifespan changes in working memory in fragile X premutation males. Brain Cogn 2009, 69:551-558. 10.1016/j.bandc.2008.11.006
    • (2009) Brain Cogn , vol.69 , pp. 551-558
    • Cornish1    Kogan, C.S.2    Li, L.3    Turk, J.4    Jacquemont, S.5    Hagerman, R.J.6
  • 55
    • 78650957433 scopus 로고    scopus 로고
    • An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS)
    • 2978252 20537351
    • Hashimoto RI, Backer KC, Tassone F, Hagerman RJ, Rivera SM: An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS). J Psychiatr Res 2011, 45:36-43. 10.1016/j.jpsychires.2010.04.030
    • (2011) J Psychiatr Res , vol.45 , pp. 36-43
    • Hashimoto, R.I.1    Backer, K.C.2    Tassone, F.3    Hagerman, R.J.4    Rivera, S.M.5
  • 56
    • 62149102600 scopus 로고    scopus 로고
    • Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature
    • 2652667 19265746
    • Hunter JE, Abramowitz A, Rusin M, Sherman SL: Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genet Med 2009, 11:79-89.
    • (2009) Genet Med , vol.11 , pp. 79-89
    • Hunter, J.E.1    Abramowitz, A.2    Rusin, M.3    Sherman, S.L.4
  • 57
    • 57149143313 scopus 로고    scopus 로고
    • No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50
    • 2668066 1:CAS:528:DC%2BD1MXit1Gl 19026394
    • Hunter JE, Allen EG, Abramowitz A, Rusin M, Leslie M, Novak G, Hamilton D, Shubeck L, Charen K, Sherman SL: No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet 2008, 83:692-702. 10.1016/j.ajhg.2008.10.021
    • (2008) Am J Hum Genet , vol.83 , pp. 692-702
    • Hunter, J.E.1    Allen, E.G.2    Abramowitz, A.3    Rusin, M.4    Leslie, M.5    Novak, G.6    Hamilton, D.7    Shubeck, L.8    Charen, K.9    Sherman, S.L.10
  • 58
    • 84863310075 scopus 로고    scopus 로고
    • Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts
    • Hunter JE, Sherman SL, Grigsby J, Kogan CS, Cornish K: Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts. Neuropsychologia 2012, 26:156-164.
    • (2012) Neuropsychologia , vol.26 , pp. 156-164
    • Hunter, J.E.1    Sherman, S.L.2    Grigsby, J.3    Kogan, C.S.4    Cornish, K.5
  • 59
    • 11144293459 scopus 로고    scopus 로고
    • The emerging fragile X premutation phenotype: evidence from the domain of social cognition
    • 15629215
    • Cornish K, Kogan C, Turk J, Manly T, James N, Mills A, Dalton A: The emerging fragile X premutation phenotype: evidence from the domain of social cognition. Brain Cogn 2005, 57:53-60. 10.1016/j.bandc.2004.08.020
    • (2005) Brain Cogn , vol.57 , pp. 53-60
    • Cornish, K.1    Kogan, C.2    Turk, J.3    Manly, T.4    James, N.5    Mills, A.6    Dalton, A.7
  • 60
    • 0027976932 scopus 로고
    • Behavioral and psychiatric disorders in adult male carriers of fragile X
    • 1:STN:280:DyaK2c3gtFWrtQ%3D%3D 8150798
    • Dorn MB, Mazzocco MM, Hagerman RJ: Behavioral and psychiatric disorders in adult male carriers of fragile X. J Am Acad Child Adolesc Psychiatry 1994, 33:256-264. 10.1097/00004583-199402000-00015
    • (1994) J Am Acad Child Adolesc Psychiatry , vol.33 , pp. 256-264
    • Dorn, M.B.1    Mazzocco, M.M.2    Hagerman, R.J.3
  • 64
    • 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, 5:14.
    • (2011) Front Hum Neurosci , vol.5 , pp. 14
    • 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
  • 69
    • 0028340191 scopus 로고
    • Apparently enhanced visual information processing in female fragile X carriers: preliminary findings
    • 1:STN:280:DyaK2M%2FivFGgsg%3D%3D 7943002
    • Steyaert J, Borghgraef M, Fryns JP: Apparently enhanced visual information processing in female fragile X carriers: preliminary findings. Am J Med Genet 1994, 51:374-377. 10.1002/ajmg.1320510415
    • (1994) Am J Med Genet , vol.51 , pp. 374-377
    • Steyaert, J.1    Borghgraef, M.2    Fryns, J.P.3
  • 73
    • 49449089705 scopus 로고    scopus 로고
    • Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey
    • 1:CAS:528:DC%2BD1cXhtVCks7vJ 18570292
    • Bailey DB Jr, Raspa M, Olmsted M, Holiday DB: Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey. Am J Med Genet A 2008, 146A:2060-2069. 10.1002/ajmg.a.32439
    • (2008) Am J Med Genet A , vol.146 A , pp. 2060-2069
    • Bailey, D.B.1    Raspa, M.2    Olmsted, M.3    Holiday, D.B.4
  • 76
    • 84872153352 scopus 로고    scopus 로고
    • Differential sensitivity to life stress in FMR1 premutation carrier mothers of children with fragile X syndrome
    • 3434309 22149120
    • 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, 31:612-622.
    • (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
  • 78
    • 63249097396 scopus 로고    scopus 로고
    • Whole-brain expression analysis of FMRP in adult monkey and its relationship to cognitive deficits in fragile X syndrome
    • 1:CAS:528:DC%2BD1MXktFamtb4%3D 19368811
    • Zangenehpour S, Cornish KM, Chaudhuri A: Whole-brain expression analysis of FMRP in adult monkey and its relationship to cognitive deficits in fragile X syndrome. Brain Res 2009, 1264:76-84.
    • (2009) Brain Res , vol.1264 , pp. 76-84
    • Zangenehpour, S.1    Cornish, K.M.2    Chaudhuri, A.3
  • 79
    • 2342578152 scopus 로고    scopus 로고
    • Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome
    • 1735735 1:STN:280:DC%2BD2c7ntFejtg%3D%3D 15060119
    • Tassone F, Hagerman RJ, Garcia-Arocena D, Khandjian EW, Greco CM, Hagerman PJ: Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet 2004, 41:e43. 10.1136/jmg.2003.012518
    • (2004) J Med Genet , vol.41 , pp. e43
    • Tassone, F.1    Hagerman, R.J.2    Garcia-Arocena, D.3    Khandjian, E.W.4    Greco, C.M.5    Hagerman, P.J.6
  • 80
    • 79952164557 scopus 로고    scopus 로고
    • A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome
    • 3044831 21354978
    • 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, 134:863-78. 10.1093/brain/awq368
    • (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
  • 81
    • 67649151875 scopus 로고    scopus 로고
    • Reduced hippocampal activation during recall is associated with elevated FMR1 mRNA and psychiatric symptoms in men with the fragile X premutation
    • 2678852 19430586
    • Koldewyn K, Hessl D, Adams J, Tassone F, Hagerman PJ, Hagerman RJ, Rivera SM: Reduced hippocampal activation during recall is associated with elevated FMR1 mRNA and psychiatric symptoms in men with the fragile X premutation. Brain Imaging Behav 2008, 2:105-116. 10.1007/s11682-008-9020-9
    • (2008) Brain Imaging Behav , vol.2 , pp. 105-116
    • Koldewyn, K.1    Hessl, D.2    Adams, J.3    Tassone, F.4    Hagerman, P.J.5    Hagerman, R.J.6    Rivera, S.M.7
  • 82
    • 84886092257 scopus 로고    scopus 로고
    • Altered neural activity of magnitude estimation processing in adults with the fragile X premutation
    • 24045061
    • Kim SY, Hashimoto RI, Tassone F, Simon TJ, Rivera SM: Altered neural activity of magnitude estimation processing in adults with the fragile X premutation. J Psychiatr Res 2013, 47:1909-1916. 10.1016/j.jpsychires.2013.08.014
    • (2013) J Psychiatr Res , vol.47 , pp. 1909-1916
    • Kim, S.Y.1    Hashimoto, R.I.2    Tassone, F.3    Simon, T.J.4    Rivera, S.M.5
  • 83
    • 85113601514 scopus 로고    scopus 로고
    • Current gaps in understanding the molecular basis of FXTAS
    • Hagerman P: Current gaps in understanding the molecular basis of FXTAS. Tremor Other Hyperkinet Mov 2012., 2: http://tremorjournal.org/article/view/63
    • (2012) Tremor Other Hyperkinet Mov , vol.2
    • Hagerman, P.1
  • 86
    • 33646723545 scopus 로고    scopus 로고
    • Dementia with mood symptoms in a fragile X premutation carrier with the fragile X-associated tremor/ataxia syndrome: clinical intervention with donepezil and venlafaxine
    • 16720793
    • Bourgeois JB, Farzin F, Brunberg JA, Tassone F, Hagerman P, Zhang L, Hessl D, Hagerman R: Dementia with mood symptoms in a fragile X premutation carrier with the fragile X-associated tremor/ataxia syndrome: clinical intervention with donepezil and venlafaxine. J Neuropsychiatry Clin Neurosci 2006, 18:171-177.
    • (2006) J Neuropsychiatry Clin Neurosci , vol.18 , pp. 171-177
    • Bourgeois, J.B.1    Farzin, F.2    Brunberg, J.A.3    Tassone, F.4    Hagerman, P.5    Zhang, L.6    Hessl, D.7    Hagerman, R.8
  • 88
    • 74249119235 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment
    • 2787702 19574929
    • Leehey MA: Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med 2009, 57:830-836.
    • (2009) J Investig Med , vol.57 , pp. 830-836
    • Leehey, M.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.