Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers

Deborah A. Hall, Erin Robertson, Annie L. Shelton, Molly C. Losh, Montserrat Mila, Esther Granell Moreno, Beatriz Gomez-Anson, Veronica Martinez-Cerdeno, Jim Grigsby, Reymundo Lozano, Randi J Hagerman, Lorena Santa Maria, Elizabeth Berry-Kravis, Joan A. O’Keefe

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene. The disorder is characterized by kinetic tremor and cerebellar ataxia, shows age-dependent penetrance, and occurs more frequently in men. This paper summarizes the key emerging issues in FXTAS as presented at the Second International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2015. The topics discussed include phenotype-genotype relationships, neurobehavioral function, and updates on FXTAS genetics and imaging.

Original languageEnglish (US)
Pages (from-to)578-586
Number of pages9
JournalCerebellum
Volume15
Issue number5
DOIs
StatePublished - Oct 1 2016

Keywords

  • Cognition
  • FMR1 genetics
  • FMR1 premutation
  • Fragile X-associated tremor/ataxia syndrome (FXTAS)
  • Neuroimaging

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Hall, D. A., Robertson, E., Shelton, A. L., Losh, M. C., Mila, M., Moreno, E. G., Gomez-Anson, B., Martinez-Cerdeno, V., Grigsby, J., Lozano, R., Hagerman, R. J., Maria, L. S., Berry-Kravis, E., & O’Keefe, J. A. (2016). Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. Cerebellum, 15(5), 578-586. https://doi.org/10.1007/s12311-016-0799-4