Skip to main content
Journal cover image

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.

Publication ,  Journal Article
Hagerman, RJ; Leavitt, BR; Farzin, F; Jacquemont, S; Greco, CM; Brunberg, JA; Tassone, F; Hessl, D; Harris, SW; Zhang, L; Jardini, T; Gane, LW ...
Published in: American journal of human genetics
May 2004

We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X-associated tremor/ataxia syndrome (FXTAS). Unlike their male counterparts with FXTAS, none of the women had dementia. Females had not been reported in previous studies of FXTAS, suggesting that they may be relatively protected from this disorder. Brain tissue was available from one of the five subjects, a women who died at age 85 years; microscopic examination revealed intranuclear neuronal and astrocytic inclusions, in accord with the findings previously reported in males with FXTAS. The work-up of families with the FMR1 mutation should include questions regarding neurological symptoms in both older male and female carriers, with the expectation that females may also manifest the symptoms of FXTAS, although more subtly and less often than their male counterparts.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

American journal of human genetics

DOI

ISSN

0002-9297

Publication Date

May 2004

Volume

74

Issue

5

Start / End Page

1051 / 1056

Related Subject Headings

  • Genetics & Heredity
  • 11 Medical and Health Sciences
  • 06 Biological Sciences
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Hagerman, R. J., Leavitt, B. R., Farzin, F., Jacquemont, S., Greco, C. M., Brunberg, J. A., … Hagerman, P. J. (2004). Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. American Journal of Human Genetics, 74(5), 1051–1056. https://doi.org/10.1086/420700
Hagerman, R. J., B. R. Leavitt, F. Farzin, S. Jacquemont, C. M. Greco, J. A. Brunberg, F. Tassone, et al. “Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.American Journal of Human Genetics 74, no. 5 (May 2004): 1051–56. https://doi.org/10.1086/420700.
Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. American journal of human genetics. 2004 May;74(5):1051–6.
Hagerman, R. J., et al. “Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.American Journal of Human Genetics, vol. 74, no. 5, May 2004, pp. 1051–56. Manual, doi:10.1086/420700.
Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. American journal of human genetics. 2004 May;74(5):1051–1056.
Journal cover image

Published In

American journal of human genetics

DOI

ISSN

0002-9297

Publication Date

May 2004

Volume

74

Issue

5

Start / End Page

1051 / 1056

Related Subject Headings

  • Genetics & Heredity
  • 11 Medical and Health Sciences
  • 06 Biological Sciences