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

Details

Serval ID
serval:BIB_4890C513CB14
Type
Article: article from journal or magazin.
Collection
Publications
Title
Progression of tremor and ataxia in male carriers of the FMR1 premutation
Journal
Movement Disorders
Author(s)
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., Hagerman  P. J.
ISSN
0885-3185
Publication state
Published
Issued date
01/2007
Peer-reviewed
Oui
Volume
22
Number
2
Pages
203-6
Notes
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't --- Old month value: Jan 15
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 approximately 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.
Keywords
Adult Age of Onset Aged Aged, 80 and over Ataxia/epidemiology/*genetics/*physiopathology Chromosomes, Human, X/genetics Disease Progression Follow-Up Studies Fragile X Mental Retardation Protein/genetics/*physiology Gene Silencing/physiology *Heterozygote Humans Male Middle Aged Point Mutation/*genetics Retrospective Studies Severity of Illness Index Time Factors Tremor/epidemiology/*genetics/*physiopathology
Pubmed
Web of science
Create date
28/02/2008 10:42
Last modification date
20/08/2019 13:55
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