Progression of tremor and ataxia in male carriers of the FMR1 premutation
Détails
ID Serval
serval:BIB_4890C513CB14
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Progression of tremor and ataxia in male carriers of the FMR1 premutation
Périodique
Movement Disorders
ISSN
0885-3185
Statut éditorial
Publié
Date de publication
01/2007
Peer-reviewed
Oui
Volume
22
Numéro
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
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't --- Old month value: Jan 15
Résumé
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.
Mots-clé
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
Création de la notice
28/02/2008 11:42
Dernière modification de la notice
20/08/2019 14:55