Progression of tremor and ataxia in male carriers of the FMR1 premutation

Maureen A. Leehey, Elizabeth Berry-Kravis, Sung Joon Min, Deborah A. Hall, Cathlin D. Rice, Lin Zhang, Jim Grigsby, Claudia M. Greco, Ann Reynolds, Rebecca Lara, Jennifer Cogswell, Sebastien Jacquemont, David R. Hessl, Flora Tassone, Randi Hagerman, Paul J. Hagerman

Research output: Contribution to journalArticlepeer-review

115 Scopus citations

Abstract

Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset movement disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy. The natural history of FXTAS is largely unknown. To address this issue, a family-based, retrospective, longitudinal study was conducted with a cohort of 55 male premutation carriers. Analysis of the progression of the major motor signs of FXTAS, tremor and ataxia, shows that tremor usually occurs first, with median onset at ∼60 years of age. From the onset of the initial motor sign, median delay of onset of ataxia was 2 years; onset of falls, 6 years; dependence on a walking aid, 15 years; and death, 21 years. Preliminary data on life expectancy are variable, with a range from 5 to 25 years.

Original languageEnglish (US)
Pages (from-to)203-206
Number of pages4
JournalMovement Disorders
Volume22
Issue number2
DOIs
StatePublished - Jan 15 2007

Keywords

  • Ataxia
  • Fragile X-associated tremor/ataxia syndrome
  • FXTAS
  • Natural history
  • Tremor

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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