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 journalArticle

99 Citations (Scopus)

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

Fingerprint

Tremor
Ataxia
Intellectual Disability
Gait Ataxia
Movement Disorders
Life Expectancy
Natural History
Walking
Atrophy
Longitudinal Studies
Dementia
Retrospective Studies
Alleles
Brain
Genes
Fragile X Tremor Ataxia Syndrome

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Progression of tremor and ataxia in male carriers of the FMR1 premutation. / Leehey, Maureen A.; Berry-Kravis, Elizabeth; Min, Sung Joon; Hall, Deborah A.; Rice, Cathlin D.; Zhang, Lin; Grigsby, Jim; Greco, Claudia M.; Reynolds, Ann; Lara, Rebecca; Cogswell, Jennifer; Jacquemont, Sebastien; Hessl, David R; Tassone, Flora; Hagerman, Randi J; Hagerman, Paul J.

In: Movement Disorders, Vol. 22, No. 2, 15.01.2007, p. 203-206.

Research output: Contribution to journalArticle

Leehey, MA, Berry-Kravis, E, Min, SJ, Hall, DA, Rice, CD, Zhang, L, Grigsby, J, Greco, CM, Reynolds, A, Lara, R, Cogswell, J, Jacquemont, S, Hessl, DR, Tassone, F, Hagerman, RJ & Hagerman, PJ 2007, 'Progression of tremor and ataxia in male carriers of the FMR1 premutation', Movement Disorders, vol. 22, no. 2, pp. 203-206. https://doi.org/10.1002/mds.21252
Leehey MA, Berry-Kravis E, Min SJ, Hall DA, Rice CD, Zhang L et al. Progression of tremor and ataxia in male carriers of the FMR1 premutation. Movement Disorders. 2007 Jan 15;22(2):203-206. https://doi.org/10.1002/mds.21252
Leehey, Maureen A. ; Berry-Kravis, Elizabeth ; Min, Sung Joon ; Hall, Deborah A. ; Rice, Cathlin D. ; Zhang, Lin ; Grigsby, Jim ; Greco, Claudia M. ; Reynolds, Ann ; Lara, Rebecca ; Cogswell, Jennifer ; Jacquemont, Sebastien ; Hessl, David R ; Tassone, Flora ; Hagerman, Randi J ; Hagerman, Paul J. / Progression of tremor and ataxia in male carriers of the FMR1 premutation. In: Movement Disorders. 2007 ; Vol. 22, No. 2. pp. 203-206.
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