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 | |
| State | Published - Jan 15 2007 |
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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 journal › Article
}
TY - JOUR
T1 - Progression of tremor and ataxia in male carriers of the FMR1 premutation
AU - Leehey, Maureen A.
AU - Berry-Kravis, Elizabeth
AU - Min, Sung Joon
AU - Hall, Deborah A.
AU - Rice, Cathlin D.
AU - Zhang, Lin
AU - Grigsby, Jim
AU - Greco, Claudia M.
AU - Reynolds, Ann
AU - Lara, Rebecca
AU - Cogswell, Jennifer
AU - Jacquemont, Sebastien
AU - Hessl, David R
AU - Tassone, Flora
AU - Hagerman, Randi J
AU - Hagerman, Paul J
PY - 2007/1/15
Y1 - 2007/1/15
N2 - 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.
AB - 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.
KW - Ataxia
KW - Fragile X-associated tremor/ataxia syndrome
KW - FXTAS
KW - Natural history
KW - Tremor
UR - http://www.scopus.com/inward/record.url?scp=33847761463&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33847761463&partnerID=8YFLogxK
U2 - 10.1002/mds.21252
DO - 10.1002/mds.21252
M3 - Article
C2 - 17133502
AN - SCOPUS:33847761463
VL - 22
SP - 203
EP - 206
JO - Movement Disorders
JF - Movement Disorders
SN - 0885-3185
IS - 2
ER -