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

doi:10.1002/mds.21252

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 journal › Article › peer-review

109 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 language	English (US)
Pages (from-to)	203-206
Number of pages	4
Journal	Movement Disorders
Volume	22
Issue number	2
DOIs	https://doi.org/10.1002/mds.21252
State	Published - 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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Leehey, M. A., Berry-Kravis, E., Min, S. J., Hall, D. A., Rice, C. D., Zhang, L., Grigsby, J., Greco, C. M., Reynolds, A., Lara, R., Cogswell, J., Jacquemont, S., Hessl, D. R., Tassone, F., Hagerman, R. J., & Hagerman, P. J. (2007). Progression of tremor and ataxia in male carriers of the FMR1 premutation. Movement Disorders, 22(2), 203-206. https://doi.org/10.1002/mds.21252

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 journal › Article › peer-review

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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