Fragile X Premutation

Chapter

Keywords

Trinucleotide Repeat Middle Cerebellar Peduncle Full Mutation Cerebellar White Matter Purkinje Cell Loss 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References and Further Reading

  1. Beilina A, Tassone F, Schwartz PH, Sahota P, Hagerman PJ. Redistribution of transcription starts sites within the FMR1 promotor region with expansion of the downstream CGG-repeat element. Hum Mol Genet 2004; 13: 543–549CrossRefPubMedGoogle Scholar
  2. 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: 616–623CrossRefPubMedGoogle Scholar
  3. Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis EM, Grigsby J, Leehey MA, Tassone F, Brown TW, Greco CM, Hagerman PJ. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol 2002; 23: 1757–1766PubMedGoogle Scholar
  4. Chen L-S, Tassone F, Sahota P, Hagerman PJ. The (CGG)n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum Mol Genet 2003; 12: 3067–3074PubMedGoogle Scholar
  5. Devys D, Lutz Y, Rouyer N, Bellocq J-P, Mandel JL. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 1993; 4: 335–340CrossRefPubMedGoogle Scholar
  6. Dorn MB, Mazzocco MMM, Hagerman RJ. Behavioral and psychiatric disorders in adult male carriers of fragile X. J Am Child Adolesc Psychiatry 1994; 33: 256–264Google Scholar
  7. Franke P, Maier W, Hautzinger M, Weiffenbach O, Gänsicke M, Iwers B, Poustka F, Schwab SG, Froster U. Fragile-X carrier females: evidence for a distinct psychopathological phenotype? Am J Med Genet 1996; 64: 334–339CrossRefPubMedGoogle Scholar
  8. Franke P, Leboyer M, Gänsicke M, Weiffenbach O, Biancalana V, Cornillet-Lefebre P, Croquette MF, Froster U, Schwab SG, Poustka F, Hautzinger M, Maier W. Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1. Psychiatry Res 1998; 80: 113–127CrossRefPubMedGoogle Scholar
  9. Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002; 125: 1760–1771CrossRefPubMedGoogle Scholar
  10. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004; 74: 805–816PubMedGoogle Scholar
  11. Hagerman PJ, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome (FXTAS). Ment Retard Dev Disabil Res Rev 2004; 10: 25–30CrossRefPubMedGoogle Scholar
  12. 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 male carriers of fragile X. Neurology 2001; 57: 127–130PubMedGoogle Scholar
  13. Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004; 74: 1051–1056PubMedGoogle Scholar
  14. Jacquemont S, Hagerman RJ, Leehey M, Grigsbey J, Zhang L, Brunberg JA, Gredo C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Ted Brown W, Schaeffer S, Kissel J, Tassone F, Hagerman PJ. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003; 72: 869–878CrossRefPubMedGoogle Scholar
  15. Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004; 291: 460–469CrossRefPubMedGoogle Scholar
  16. Murphy DGM, Mentis MJ, Pietrini P, Grady CL, Moore CJ, Horwithz B, Hinton V, Dobkin CS, Schapiro MB, Rapoport SI. Permutation female carriers of fragile X syndrome: A pilot study on brain anatomy and metabolism. J Am Acad Child Adolesc Psychiatry 1999; 38: 1294–1301PubMedGoogle Scholar
  17. Riddle JE, Cheema A, Sobesky WE, Gardner SC. Phenotypic involvement in females with the FMR1 gene mutation. Am J Ment Retard 1998; 102: 590–601PubMedGoogle Scholar
  18. 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: 6–15CrossRefPubMedGoogle Scholar
  19. Tassone F, Hagerman RJ, Hagerman PJ. A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. J Med Genet 2001; 38: 453–456CrossRefPubMedGoogle Scholar
  20. 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: e43CrossRefPubMedGoogle Scholar

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© Springer-Verlag Berlin Heidelberg 2005

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