Fragile-X-Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation

Randi J Hagerman, B. R. Leavitt, F. Farzin, S. Jacquemont, C. M. Greco, James A Brunberg, Flora Tassone, David R Hessl, S. W. Harris, Lin Zhang, T. Jardini, L. W. Gane, Jessica A Ferranti, L. Ruiz, M. A. Leehey, J. Grigsby, Paul J Hagerman

Research output: Contribution to journalArticle

263 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1051-1056
Number of pages6
JournalAmerican Journal of Human Genetics
Volume74
Issue number5
DOIs
StatePublished - May 2004

ASJC Scopus subject areas

  • Genetics

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