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, Verónica Martínez-Cerdeño, Jim Grigsby, Reymundo Lozano, Randi Hagerman, Lorena Santa Maria, Elizabeth Berry-Kravis, Joan A. O’Keefe*

*Corresponding author for this work

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., Martínez-Cerdeño, V., Grigsby, J., Lozano, R., Hagerman, R., 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