메뉴 건너뛰기




Volumn 26, Issue 10, 2011, Pages 1900-1906

FMR1 gray-zone alleles: Association with Parkinson's disease in women?

Author keywords

Fragile X mental retardation 1; Fragile X associated tremor ataxia syndrome; Genetics; Parkinson's disease; Parkinsonism

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

EID: 80052264026     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23755     Document Type: Article
Times cited : (41)

References (45)
  • 1
    • 14044268841 scopus 로고    scopus 로고
    • Association of FMR1 repeat size with ovarian dysfunction
    • Sullivan AK, Marcus M, Epstein M, et al. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 2005; 20: 402-412.
    • (2005) Hum Reprod , vol.20 , pp. 402-412
    • Sullivan, A.K.1    Marcus, M.2    Epstein, M.3
  • 2
    • 9144252520 scopus 로고    scopus 로고
    • Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
    • Jacquemont S, Hagerman RJ, Leehey MA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004; 291: 460-469.
    • (2004) JAMA , vol.291 , pp. 460-469
    • Jacquemont, S.1    Hagerman, R.J.2    Leehey, M.A.3
  • 3
    • 42049113610 scopus 로고    scopus 로고
    • FMR1 CGG repeat length predicts motor dysfunction in FXTAS
    • Leehey MA, Berry-Kravis E, Goetz CG, et al. FMR1 CGG repeat length predicts motor dysfunction in FXTAS. Neurology 2008; 70: 1397-1402.
    • (2008) Neurology , vol.70 , pp. 1397-1402
    • Leehey, M.A.1    Berry-Kravis, E.2    Goetz, C.G.3
  • 4
    • 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: 869-878.
    • (2003) Am J Hum Genet , vol.72 , pp. 869-878
    • Jacquemont, S.1    Hagerman, R.J.2    Leehey, M.3
  • 5
    • 33645863149 scopus 로고    scopus 로고
    • An investigation of FRAXA intermediate allele phenotype in a longitudinal sample
    • Ennis S, Murray A, Youings S, et al. An investigation of FRAXA intermediate allele phenotype in a longitudinal sample. Ann Hum Genet 2006; 70: 170-180.
    • (2006) Ann Hum Genet , vol.70 , pp. 170-180
    • Ennis, S.1    Murray, A.2    Youings, S.3
  • 6
    • 0037042019 scopus 로고    scopus 로고
    • Cognitive and behavioral performance among FMR1 high-repeat allele carriers surveyed from special education classes
    • Sherman S, Marsteller F, Abramoqitz A, Scott E, Leslie M, Bergman J. Cognitive and behavioral performance among FMR1 high-repeat allele carriers surveyed from special education classes. Am J Med Genet 2002; 114: 458-465.
    • (2002) Am J Med Genet , vol.114 , pp. 458-465
    • Sherman, S.1    Marsteller, F.2    Abramoqitz, A.3    Scott, E.4    Leslie, M.5    Bergman, J.6
  • 7
    • 70449421459 scopus 로고    scopus 로고
    • Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
    • Loesch DZ, Khaniani MS, Slater, HR et al. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clin Genet 2009; 76: 471-476.
    • (2009) Clin Genet , vol.76 , pp. 471-476
    • Loesch, D.Z.1    Khaniani, M.S.2    Slater, H.R.3
  • 8
    • 0037084852 scopus 로고    scopus 로고
    • Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
    • Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F. Premutation and intermediate-size FMR1 alleles in 10, 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Med Genet 2002; 11: 371-378.
    • (2002) Hum Med Genet , vol.11 , pp. 371-378
    • Dombrowski, C.1    Levesque, S.2    Morel, M.L.3    Rouillard, P.4    Morgan, K.5    Rousseau, F.6
  • 9
    • 0028799833 scopus 로고
    • Prevalence of carriers of premutation-size alleles of the FMR1 gene-and implications for the population genetics of the fragile X syndrome
    • Rousseau F, Rouillard P, Morel M, Khandjian EW, Morgan K. Prevalence of carriers of premutation-size alleles of the FMR1 gene-and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995; 57: 1006-1018.
    • (1995) Am J Hum Genet , vol.57 , pp. 1006-1018
    • Rousseau, F.1    Rouillard, P.2    Morel, M.3    Khandjian, E.W.4    Morgan, K.5
  • 10
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases
    • Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181-184.
    • (1992) J Neurol Neurosurg Psychiatry , vol.55 , pp. 181-184
    • Hughes, A.J.1    Daniel, S.E.2    Kilford, L.3    Lees, A.J.4
  • 11
    • 0030901246 scopus 로고    scopus 로고
    • A shortened version of the motor section of the Unified Huntington's Disease Rating Scale
    • Siesling S, Zwinderman AH, van Vugt JP, Kieburtz K, Roos RA. A shortened version of the motor section of the Unified Huntington's Disease Rating Scale. Mov Disord 1997; 12: 229-234.
    • (1997) Mov Disord , vol.12 , pp. 229-234
    • Siesling, S.1    Zwinderman, A.H.2    van Vugt, J.P.3    Kieburtz, K.4    Roos, R.A.5
  • 12
    • 0030939011 scopus 로고    scopus 로고
    • International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome
    • Trouillas P, Takayanagi T, Hallett M, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci 1997; 145: 205-211.
    • (1997) J Neurol Sci , vol.145 , pp. 205-211
    • Trouillas, P.1    Takayanagi, T.2    Hallett, M.3
  • 13
    • 0000483330 scopus 로고
    • Clinical Rating Scale for Tremor
    • Jankovic J, Tolosa E, eds. Baltimore: Urban & Schwartzenberg
    • Fahn S, Tolosa E, Marin C. Clinical Rating Scale for Tremor. In: Jankovic J, Tolosa E, eds. Parkinson's Disease and Movement Disorders. Baltimore: Urban & Schwartzenberg; 1987: 225-234.
    • (1987) Parkinson's Disease and Movement Disorders , pp. 225-234
    • Fahn, S.1    Tolosa, E.2    Marin, C.3
  • 14
    • 0031813865 scopus 로고    scopus 로고
    • Does a screening questionnaire for essential tremor agree with the physician's examination?
    • Louis ED, Ford B, Lee H, Andrews H. Does a screening questionnaire for essential tremor agree with the physician's examination? Neurology 1998; 50: 1351-1357.
    • (1998) Neurology , vol.50 , pp. 1351-1357
    • Louis, E.D.1    Ford, B.2    Lee, H.3    Andrews, H.4
  • 15
    • 0032937059 scopus 로고    scopus 로고
    • Diagnostic criteria for Parkinson's disease
    • Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson's disease. Arch Neurol 1999; 56: 33-39.
    • (1999) Arch Neurol , vol.56 , pp. 33-39
    • Gelb, D.J.1    Oliver, E.2    Gilman, S.3
  • 16
    • 0033081705 scopus 로고    scopus 로고
    • Consensus statement on the diagnosis of multiple systems atrophy
    • Gilman S, Low PA, Quinn N, et al. Consensus statement on the diagnosis of multiple systems atrophy. J Neurol Sci 1999 163: 94-98.
    • (1999) J Neurol Sci , vol.163 , pp. 94-98
    • Gilman, S.1    Low, P.A.2    Quinn, N.3
  • 17
    • 85005299881 scopus 로고
    • Progressive supranuclear palsy: clinical and pathological diagnosis
    • Tolosa E, Valldeoriola F, Cruz-Sanchez F. Progressive supranuclear palsy: clinical and pathological diagnosis. Eur J Neurol 1995; 2: 258-273.
    • (1995) Eur J Neurol , vol.2 , pp. 258-273
    • Tolosa, E.1    Valldeoriola, F.2    Cruz-Sanchez, F.3
  • 18
    • 0001111974 scopus 로고
    • Cortical-basal ganglionic degeneration
    • Calne DB, ed. Philadelphia: WB Saunders
    • Lang AE, Riley DE, Bergeron C. Cortical-basal ganglionic degeneration. In: Calne DB, ed. Neurodegeneration Diseases. Philadelphia: WB Saunders; 1994: 877-894.
    • (1994) Neurodegeneration Diseases , pp. 877-894
    • Lang, A.E.1    Riley, D.E.2    Bergeron, C.3
  • 19
    • 0006164301 scopus 로고    scopus 로고
    • Consensus guidelines for the clinical and pathological diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop
    • McKeith IG, Galasko D, Kosaka K, et al. Consensus guidelines for the clinical and pathological diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. Neurology 1996; 47: 113-124.
    • (1996) Neurology , vol.47 , pp. 113-124
    • McKeith, I.G.1    Galasko, D.2    Kosaka, K.3
  • 20
    • 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 Molec Diagnostics 2008; 10: 43-49.
    • (2008) J Molec Diagnostics , vol.10 , pp. 43-49
    • Tassone, F.1    Pan, R.2    Amiri, K.3    Taylor, A.K.4    Hagerman, P.J.5
  • 21
    • 0028245479 scopus 로고
    • Improved sizing of fragile X CCG repeats by nested polymerase chain reaction
    • Levinson G, Maddalena A, Palmer FT, et al. Improved sizing of fragile X CCG repeats by nested polymerase chain reaction. Am J Med Genet 1994; 51: 527-534.
    • (1994) Am J Med Genet , vol.51 , pp. 527-534
    • Levinson, G.1    Maddalena, A.2    Palmer, F.T.3
  • 22
    • 85026141310 scopus 로고    scopus 로고
    • Initial diagnoses given to persons with the fragile x-associated tremor/ataxia syndrome (FXTAS)
    • Hall DA, Berry-Kravis E, Jacquemont S, et al. Initial diagnoses given to persons with the fragile x-associated tremor/ataxia syndrome (FXTAS). Neurology 2005; 65: 299-301.
    • (2005) Neurology , vol.65 , pp. 299-301
    • Hall, D.A.1    Berry-Kravis, E.2    Jacquemont, S.3
  • 24
    • 43449091323 scopus 로고    scopus 로고
    • Genetic variation of the FMR1 gene among four Mexican populations: Mestizo, Huichol, Purepecha, and Tarahumara
    • Barros-Nunez P, Rosales-Reynoso MA, Sandoval L, et al. Genetic variation of the FMR1 gene among four Mexican populations: Mestizo, Huichol, Purepecha, and Tarahumara. Am J Hum Biol 2008; 20: 259-263.
    • (2008) Am J Hum Biol , vol.20 , pp. 259-263
    • Barros-Nunez, P.1    Rosales-Reynoso, M.A.2    Sandoval, L.3
  • 27
    • 26444571889 scopus 로고    scopus 로고
    • Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
    • Hedrich K, Pramstaller P, Stubke K, et al. Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Mov Disord 2005; 20: 1060-1062.
    • (2005) Mov Disord , vol.20 , pp. 1060-1062
    • Hedrich, K.1    Pramstaller, P.2    Stubke, K.3
  • 28
    • 5044245884 scopus 로고    scopus 로고
    • Premutation alleles associated with Parkinson disease and essential tremor
    • Deng H, Jankovic J. Premutation alleles associated with Parkinson disease and essential tremor. JAMA 2004; 292: 1685-1868.
    • (2004) JAMA , vol.292 , pp. 1685-1868
    • Deng, H.1    Jankovic, J.2
  • 29
    • 34447281250 scopus 로고    scopus 로고
    • Screen for excess FMR1 premutation alleles among males with parkinsonism
    • Kraff J, Tang H, Cilia R, et al. Screen for excess FMR1 premutation alleles among males with parkinsonism. Arch Neurol 2007; 64: 1002-1006.
    • (2007) Arch Neurol , vol.64 , pp. 1002-1006
    • Kraff, J.1    Tang, H.2    Cilia, R.3
  • 30
    • 60549097218 scopus 로고    scopus 로고
    • Screening for the presence of FMR1 premutation alleles in women with parkinsonism
    • Cilia R, Kraff J, Canesi M, et al. Screening for the presence of FMR1 premutation alleles in women with parkinsonism. Arch Neurol 2009; 66: 244-249.
    • (2009) Arch Neurol , vol.66 , pp. 244-249
    • Cilia, R.1    Kraff, J.2    Canesi, M.3
  • 31
    • 0034917943 scopus 로고    scopus 로고
    • Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel
    • Toledano-Alhadef H, Basel-Vanagaite L, Magal N, et al. Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J Hum Genet 2001: 69: 351-360.
    • (2001) Am J Hum Genet , vol.69 , pp. 351-360
    • Toledano-Alhadef, H.1    Basel-Vanagaite, L.2    Magal, N.3
  • 32
    • 73749084776 scopus 로고    scopus 로고
    • Fragile X carrier screening and FMR1 allele distribution in the Japanese population
    • Otsuka S, Sakamoto Y, Siomi H, et al. Fragile X carrier screening and FMR1 allele distribution in the Japanese population. Brain Dev 2010; 32: 110-114.
    • (2010) Brain Dev , vol.32 , pp. 110-114
    • Otsuka, S.1    Sakamoto, Y.2    Siomi, H.3
  • 33
    • 34249941641 scopus 로고    scopus 로고
    • FMR1 alleles in Parkinson's disease: relation to cognitive decline and hallucinations, a longitudinal study
    • Kurz MW, Schlitter AM, Klenk Y, et al. FMR1 alleles in Parkinson's disease: relation to cognitive decline and hallucinations, a longitudinal study. J Geriatr Psychiatry Neurol 2007; 20: 89-92.
    • (2007) J Geriatr Psychiatry Neurol , vol.20 , pp. 89-92
    • Kurz, M.W.1    Schlitter, A.M.2    Klenk, Y.3
  • 34
    • 33748321965 scopus 로고    scopus 로고
    • Predictive testing for Huntington disease: interpretation and significance of intermediate alleles
    • Semaka A, Creighton S, Warby S, Hayden MR. Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. Clin Genet 2006; 70: 283-294.
    • (2006) Clin Genet , vol.70 , pp. 283-294
    • Semaka, A.1    Creighton, S.2    Warby, S.3    Hayden, M.R.4
  • 36
    • 33745373901 scopus 로고    scopus 로고
    • Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10
    • Alonso I, Jardim LB, Artigalas O, et al. Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology 2006; 66: 1602-1604.
    • (2006) Neurology , vol.66 , pp. 1602-1604
    • Alonso, I.1    Jardim, L.B.2    Artigalas, O.3
  • 37
    • 2942622651 scopus 로고    scopus 로고
    • Risk of Parkinson disease in women effect of reproductive characteristics
    • Ragonese P, D'Amelio M, Salemi G, et al. Risk of Parkinson disease in women effect of reproductive characteristics. Neurology 2004; 62: 2010-2014.
    • (2004) Neurology , vol.62 , pp. 2010-2014
    • Ragonese, P.1    D'Amelio, M.2    Salemi, G.3
  • 38
    • 0035470372 scopus 로고    scopus 로고
    • Hysterectomy, menopause, and estrogen use preceding Parkinson's disease: an exploratory case-control study
    • Benedetti MD, Maraganore DM, Bower JH, et al. Hysterectomy, menopause, and estrogen use preceding Parkinson's disease: an exploratory case-control study. Mov Disord 2001; 16: 830-837.
    • (2001) Mov Disord , vol.16 , pp. 830-837
    • Benedetti, M.D.1    Maraganore, D.M.2    Bower, J.H.3
  • 39
    • 38149096375 scopus 로고    scopus 로고
    • Increased risk of parkinsonism in women who underwent oophorectomy before menopause
    • Rocca WA, Bower JH, Maraganore DM, et al. Increased risk of parkinsonism in women who underwent oophorectomy before menopause. Neurology 2008; 70: 200-209.
    • (2008) Neurology , vol.70 , pp. 200-209
    • Rocca, W.A.1    Bower, J.H.2    Maraganore, D.M.3
  • 40
  • 41
    • 23944493381 scopus 로고    scopus 로고
    • FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
    • Bretherick KL, Fluker MR, Robinson WP. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 2005; 117: 376-382.
    • (2005) Hum Genet , vol.117 , pp. 376-382
    • Bretherick, K.L.1    Fluker, M.R.2    Robinson, W.P.3
  • 42
    • 33645314905 scopus 로고    scopus 로고
    • Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
    • Bodega B, Bione S, Dalprà L, et al. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod 2006; 21: 952-957.
    • (2006) Hum Reprod , vol.21 , pp. 952-957
    • Bodega, B.1    Bione, S.2    Dalprà, L.3
  • 43
    • 0034016083 scopus 로고    scopus 로고
    • Clinical involvement and protein expression in individuals with the FMR1 premutation
    • Tassone F, Hagerman RJ, Taylor AK, et al. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 2000; 91: 144-152.
    • (2000) Am J Med Genet , vol.91 , pp. 144-152
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3
  • 44
    • 34147169493 scopus 로고    scopus 로고
    • Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raise, and correlate with the number of CGG repeats
    • Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, Hagerman RJ. Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raise, and correlate with the number of CGG repeats. J Med Genet 2007; 44: 200-204.
    • (2007) J Med Genet , vol.44 , pp. 200-204
    • Loesch, D.Z.1    Bui, Q.M.2    Huggins, R.M.3    Mitchell, R.J.4    Hagerman, R.J.5
  • 45
    • 77953884301 scopus 로고    scopus 로고
    • Advances in understanding the molecular basis of FXTAS
    • Garcia-Arocena D, Hagerman PJ. Advances in understanding the molecular basis of FXTAS. Hum Molec Genet 2010; 19: R83-R89.
    • (2010) Hum Molec Genet , vol.19
    • Garcia-Arocena, D.1    Hagerman, P.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.