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

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

Abstract

© 2016, Springer Science+Business Media New York. 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
Pages (from-to)578-586
JournalCerebellum
Volume15
Issue number5
DOIs
Publication statusPublished - 1 Oct 2016

Keywords

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

Fingerprint Dive into the research topics of 'Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers'. Together they form a unique fingerprint.

Cite this