White matter microstructure, cognition, and molecular markers in fragile X premutation females

Conclusions: We provide evidence linking white matter microstructure to executive dysfunction and elevated FMR1 mRNA and FMR1 exon 1/intron 1 boundary methylation in women with PM without FXTAS. This suggests that the FXTAS phenotype may not be distinct but may form part of a spectrum of PM involvement.

http://www.neurology.org/cgi/content/short/88/22/2080?rss=1

Source: Neurology - May 29, 2017 Category: Neurology Authors: Shelton, A. L., Cornish, K. M., Godler, D., Bui, Q. M., Kolbe, S., Fielding, J. Tags: DWI, Executive function, Cerebellum, Association studies in genetics ARTICLE Source Type: research