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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 control genes: β-Glucuronidase ( GUS ), Succinate Dehydrogenase 1 ( SDHA)  and Eukaryotic Translation Initiation Factor 4A ( EI4A2 ). Although there was significant correlation of gait variability with  FMR1  mRNA levels ( p  = 0.004) when normalized to  GUS (FMR1 / GUS ), this was lost when  FMR1  was normalized to  SDHA  and  EI4A2  (2IC). In contrast,  GUS  mRNA level normalized to 2IC showed a strong correlation with gait variability measures ( p  < 0.007), working memory ( p  = 0.001) and verbal intelligence scores ( p  = 0.008). PM specific changes in  GUS  mRNA were not mediated by  FMR1  mRNA. These results raise interest in the role of  GUS  in PM related disorders and emphasise the importance of using appropriate internal control genes, which have no significant association with PM phenotype, to normalize  FMR1  mRNA levels.

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles