Aging in individuals with the FMR1 mutation

Details

Serval ID
serval:BIB_E27BD3C40ECA
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Title
Aging in individuals with the FMR1 mutation
Journal
American Journal of Mental Retardation
Author(s)
Jacquemont  S., Farzin  F., Hall  D., Leehey  M., Tassone  F., Gane  L., Zhang  L., Grigsby  J., Jardini  T., Lewin  F., Berry-Kravis  E., Hagerman  P. J., Hagerman  R. J.
ISSN
0895-8017
Publication state
Published
Issued date
03/2004
Peer-reviewed
Oui
Volume
109
Number
2
Pages
154-64
Notes
Journal Article --- Old month value: Mar
Abstract
Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention tremor and/or ataxia manifested by balance problems, frequent falling, and Parkinsonian symptoms, such as masked facies, intermittent resting tremor, and mild rigidity. This finding has been termed the fragile X-associated tremor/ataxia syndrome (FXTAS) and has brought focus to the aging process in individuals with the FMR1 mutation. The premutation is associated with elevated messenger RNA levels leading to the formation of intranuclear inclusions in neurons and astrocytes associated with FXTAS. This review is a summary of our experience with FXTAS in male carriers of the premutation.
Keywords
Aged Aging/*physiology Brain/pathology Cognition Disorders/epidemiology Fragile X Mental Retardation Protein Fragile X Syndrome/epidemiology/*genetics Genetic Counseling Health Status Humans Magnetic Resonance Imaging Male Middle Aged Nerve Tissue Proteins/*genetics Point Mutation/*genetics *RNA-Binding Proteins
Pubmed
Web of science
Create date
28/02/2008 10:42
Last modification date
20/08/2019 16:06
Usage data