Journal article

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

Abstract

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..

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