FXN methylation predicts expression and clinical outcome in Friedreich ataxia

Marguerite V Evans-Galea, Nissa Carrodus, Simone M Rowley, Louise Anne Corben, Geneieve Tai, Richard Saffery, John C Galati, Nicholas C Wong, Jeffrey M Craig, David R Lynch, Sean R Regner, Alicia F D Brocht, Susan L Perlman, Khalaf O Bushara, Christopher M Gomez, George R Wilmot, Lingli Li, Elizabeth Varley, Martin B Delatycki, Joseph P Sarsero

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98 Citations (Scopus)

Abstract

Objective: Friedreich ataxia (FA) is the most common ataxia and results from an expanded GAA repeat in the first intron of FXN. This leads to epigenetic modifications and reduced frataxin. We investigated the relationships between genetic, epigenetic, and clinical parameters in a large case-control study of FA.
Original languageEnglish
Pages (from-to)487 - 497
Number of pages11
JournalAnnals of Neurology
Volume71
Issue number4
DOIs
Publication statusPublished - 2012

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