Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2004 Mar;109(2):154-64.
doi: 10.1352/0895-8017(2004)109<154:AIIWTF>2.0.CO;2.

Aging in individuals with the FMR1 mutation

S Jacquemont  1 , F Farzin, D Hall, M Leehey, F Tassone, L Gane, L Zhang, J Grigsby, T Jardini, F Lewin, E Berry-Kravis, P J Hagerman, R J Hagerman
Affiliations

Aging in individuals with the FMR1 mutation

S Jacquemont et al. Am J Ment Retard. 2004 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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
T2 axial cut of the cerebellum and pons showing hyperintensity in the middle cerebellar peduncle; found in 59% of the MRIs (27 out of 46).
Figure 2
Figure 2
Inversed recovery sagittal image showing severe atrophy and white matter lesion throughout the cerebral white matter.
See this image and copyright information in PMC

References

    1. Aziz ME, Stathopulu M, Callias C, Taylor J, Turk B, Oostra B, Willemsen R, Patton M. Clinical features of boys with fragile X premutations & intermediate alleles. American Journal of Medical Genetics. 2003;121B(1):119–127. - PubMed
    1. Berry-Kravis E, Lewin F, Wuu J, Leehey M, Hagerman R, Hagerman P, Goetz CG. Tremor and ataxia in fragile X pre-mutation carriers: Blinded videotape study. Annals of Neurology. 2003;53(5):616–623. - PubMed
    1. Botez MI, Botez-Marquard T, Elie R, Pedraza OL, Goyette K, Lalonde R. Amantadine hydrochloride treatment in her-edodegenerative ataxias: A double blind study. Journal of Neurology, Neurosurgery, and Psychiatry. 1996;61(3):259–264. - PMC - PubMed
    1. Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis E, Grigsby J, Leehey M, Tassone F, Brown WT, Greco C, Hagerman PJ. Fragile X premutation carriers: Characteristic MR imaging findings in adult males with progressive cerebellar and cognitive dysfunction. American Journal of Neuroradiology. 2002;23:1757–1766. - PMC - PubMed
    1. Chen M, Ova VO, Li M, Ferrante RJ, Fink KB, Zhu S, Bian J, Guo L, Farrell LA, Hersch SM, Hobbs W, Vonsattel JP, Cha JH, Friedlander RM. Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease. Nature Medicine. 2000;6(7):797–801. - PubMed

Substances