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Fragile X-Associated Tremor & Ataxia Syndrome (FXTAS): Scientific Articles

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Featured Articles

The following featured articles include those from NICHD researchers or NICHD-supported researchers.

  • Hagerman, P. J., (2012). Current gaps in understanding the molecular basis of FXTAS. Tremor and Other Hyperkinetic Movements; New York, 2 pii: 63. PMID: 23440729
  • Hamlin, A. A., Sukharev, D., Campos, L., Mu, Y., Tassone, F., Hessl, D., et al. (2012). Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). American Journal of Medical Genetics, 158A(6), 1304–1309. PMID: 22528549
  • Hunter, J. E., Sherman, S., Grigsby, J., Kogan, C., & Cornish, K. (2012). Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts. Neuropsychology, 26(2), 156–164. PMID: 22251309
  • Jenkin, E. C., Tassone, F., Ye, L., Hoogeveen, A. T., Brown, W. T., Hagerman, R. J., et al. (2012). Reduced telomere length in individuals with FMR1 premutations and full mutations. American Journal of Medical Genetics. Part A, 158A(5), 1060–1065. PMID: 22489017
  • Juncos, J. L., Lazarus, J. T., Rohr, J., Allen, E. G., Shubeck, L., Hamilton, D., et al. (2012). Olfactory dysfunction in fragile X tremor ataxia syndrome. Movement Disorders, 27(12), 1556–1559. PMID: 23079771
  • Loesch, D. Z., Sherwell, S., Kinsella, G., Tassone, F., Taylor, A., Amor, D., et al. (2012). Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clinical Genetics, 82(1), 88–92. PMID: 21476992
  • Seltzer, M. M., Baker, M. W., Hong, J., Maenner, M., Greenberg, J., & Mandel, D. (2012). Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 159B(5), 589–597. PMID: 22619118
  • Tassone, F., Greco, C. M., Hunsaker, M. R., Seritan, A. L., Berman, R. F., Gane, L. W., et al. (2012). Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes, Brain, and Behavior, 11(5), 577–585. PMID: 22463693
  • Hamlin, A., Liu, Y., Nguyen, D. V., Tassone, F., Zhang, L., & Hagerman, R. J. (2011). Sleep apnea in fragile X premutation carriers with and without FXTAS. American Journal of Medical Genetics, 156B(8), 923–928. PMID: 21932336
  • Hashimoto, R., Javan, A. K., Tassone, F., Hagerman, R. J., & Rivera, S. M. (2011). A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome. Brain, 134(Pt 3), 863–878. PMID: 21354978
  • Hoem, G., Raske C. R., Garcia-Arocena, D., Tassone, F., Sanchez, E., Ludwig, E. L., et al. (2011). CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS. Human Molecular Genetics, 20(11), 2161–2170. PMID: 21389081
  • Hunsaker, M. R., Greco, C. M., Spath, M. A., Smits, A. P., Navarro, C. S., Tassone, F., et al. (2011). Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathologica, 122(4), 467–479. PMID: 21785977
  • Gane, L. W., Iosif, A. M., Flynn-Wilson, L., Venturino, M., Hagerman, R.J., Seritan, A. L. (2010). Assessment of patient and caregiver needs in fragile X-associated tremor/ataxia syndrome by utilizing Q-sort methodology. Aging Mental Health, 14(8), 1000–1007. PMID: 21069606
  • Garcia-Arocena, D., & Hagerman, P. J. (2010). Advances in understanding the molecular basis of FXTAS. Human Molecular Genetics, 19(R1), R83–R90. PMID: 20430935
  • Raske, C., & Hagerman, P. J. (2009). Molecular pathogenesis of FXTAS. Journal of Investigative Medicine, 57(8), 825–829. PMID: 19794313

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Last Updated Date: 11/22/2013
Last Reviewed Date: 10/29/2013

Scientific Resources

Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology