Sébastien Jacquemont, Randi J

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Presentation transcript:

Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates Sébastien Jacquemont, Randi J. Hagerman, Maureen Leehey, Jim Grigsby, Lin Zhang, James A. Brunberg, Claudia Greco, Vincent Des Portes, Tristan Jardini, Richard Levine, Elizabeth Berry-Kravis, W. Ted Brown, Stephane Schaeffer, John Kissel, Flora Tassone, Paul J. Hagerman The American Journal of Human Genetics Volume 72, Issue 4, Pages 869-878 (April 2003) DOI: 10.1086/374321 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 Executive function decline correlated to disease duration: linear and quadratic regression. The American Journal of Human Genetics 2003 72, 869-878DOI: (10.1086/374321) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 MRI findings, T2-weighted axial images of the cerebellum. a, Normal T2 weighted axial image of the cerebellum (arrows indicate cerebellar white matter). b and c, Symmetrical regions of increased T2 signal intensity in the MCPs. d–h, Adjacent cerebellar white matter. The American Journal of Human Genetics 2003 72, 869-878DOI: (10.1086/374321) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 3 Coronal inversion recovery image demonstrating severe parietal volume loss and increased signal intensity in the cerebellar white matter. The American Journal of Human Genetics 2003 72, 869-878DOI: (10.1086/374321) Copyright © 2003 The American Society of Human Genetics Terms and Conditions