White matter microstructure, cognition, and molecular markers in fragile X premutation females
Annie L Shelton, Kim M Cornish, David Godler, Minh Bui Quang, Scott Kolbe, Joanne Fielding
NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2017
OBJECTIVE: To examine the interrelationships between fragile X mental retardation 1 (FMR1) mRNA and the FMR1 exon 1/intron 1 boundary methylation, white matter microstructure, and executive function, in women with a FMR1 premutation expansion (PM; 55-199 CGG repeats) and controls (CGG < 44). METHODS: Twenty women with PM without fragile X-associated tremor/ataxia syndrome (FXTAS) and 20 control women between 22 and 54 years of age completed this study. FMR1 mRNA and methylation levels for 9 CpG sites within the FMR1 exon 1/intron 1 boundary from peripheral blood samples were analyzed. To measure white matter microstructure, diffusion-weighted imaging was used, from which fractional anisotrop..View full abstract
Awarded by Australian Research Council
This work was funded by an Australian Research Council Discovery grant (DP110103346) to K. Cornish and J. Fielding.