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 J Hagerman, Paul J Hagerman

Research output: Contribution to journalArticlepeer-review

109 Scopus citations


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
Issue number2
StatePublished - Jan 15 2007


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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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