Ontology highlight
ABSTRACT:
SUBMITTER: Kraan CM
PROVIDER: S-EPMC4937393 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Kraan C M CM Cornish K M KM Bui Q M QM Li X X Slater H R HR Godler D E DE
Scientific reports 20160708
Fragile X tremor ataxia syndrome (FXTAS) is a late-onset disorder manifesting in a proportion of FMR1 premutation individuals (PM: 55-199 CGG triplet expansions). FXTAS is associated with elevated levels of FMR1 mRNA which are toxic. In this study, relationships between neurocognitive and intra-step gait variability measures with mRNA levels, measured in blood samples, were examined in 35 PM and 35 matched control females. The real-time PCR assays measured FMR1 mRNA, and previously used internal ...[more]