Article
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.
American journal of human genetics - 1 May 2004
Hagerman R J, Leavitt B R, Farzin F, Jacquemont S, Greco C M, Brunberg J A, Tassone F, Hessl D, Harris S W, Zhang L, Jardini T, Gane L W, Ferranti J, Ruiz L, Leehey M A, Grigsby J, Hagerman P J
Abstract excerpt
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....
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