Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation R.J. Hagerman, B.R. Leavitt, F. Farzin, S. Jacquemont, C.M.

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Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation R.J. Hagerman, B.R. Leavitt, F. Farzin, S. Jacquemont, C.M. Greco, J.A. Brunberg, F. Tassone, D. Hessl, S.W. Harris, L. Zhang, T. Jardini, L.W. Gane, J. Ferranti, L. Ruiz, M.A. Leehey, J. Grigsby, P.J. Hagerman The American Journal of Human Genetics Volume 74, Issue 5, Pages 1051-1056 (May 2004) DOI: 10.1086/420700 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Axial inversion recovery images of patient 1. A, Increased signal intensity demonstrated in the MCPs bilaterally, right greater than left. B and C, Increased signal intensity in the paramedian pons and at the pontomesencephalic junction. D, Mildly increased signal intensity in subependymal white matter of the frontal lobes. The American Journal of Human Genetics 2004 74, 1051-1056DOI: (10.1086/420700) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Ubiquitin-positive intranuclear inclusions from the hippocampus of patient 3. The American Journal of Human Genetics 2004 74, 1051-1056DOI: (10.1086/420700) Copyright © 2004 The American Society of Human Genetics Terms and Conditions