Fragile X-Associated Tremor Ataxia/Syndrome

H. E. Bronsky, S. Coffey, Randi J Hagerman

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Approximately one-third of the male carriers of the fragile X premutation allele (CGG repeat size of 55-200 on the. FMR1 gene) are at risk of developing the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). This disorder is caused by a mutation in the same gene on the X chromosome as the childhood-onset neurodevelopmental disorder fragile X syndrome. FXTAS is characterized by gait ataxia, intention tremor, and brain atrophy with intranuclear inclusions found in cortical and subcortical structures. FXTAS is commonly mistaken for other movement disorders, such as atypical Parkinson's disease and multiple system atrophy.

Original languageEnglish (US)
Title of host publicationEncyclopedia of Neuroscience
PublisherElsevier Ltd
Pages335-339
Number of pages5
ISBN (Print)9780080450469
DOIs
StatePublished - 2010

Keywords

  • Ataxia
  • Dementia
  • FMR1
  • FMRP
  • Fragile X syndrome
  • FXS
  • FXTAS
  • Neurodegeneration
  • Neuropathy
  • Parkinsonism
  • Premutation
  • Tremor

ASJC Scopus subject areas

  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Fragile X-Associated Tremor Ataxia/Syndrome'. Together they form a unique fingerprint.

  • Cite this

    Bronsky, H. E., Coffey, S., & Hagerman, R. J. (2010). Fragile X-Associated Tremor Ataxia/Syndrome. In Encyclopedia of Neuroscience (pp. 335-339). Elsevier Ltd. https://doi.org/10.1016/B978-008045046-9.01518-7