Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia.

Layne N Rodden Christian RummeyYi Na DongDavid R Lynch

Published in: Neurology. Genetics (2022)

Our data suggest that there is a ceiling effect on the clinical consequences of GAA-TR length in FRDA, as would be predicted by variegated silencing. Patients with GAA-TRs of >700 triplets represent a subgroup in which the severity of clinical manifestations based on GAA-TR length have reached maximal levels and therefore display limited clinical variability in disease progression.

Keyphrases

randomized controlled trial
machine learning
blood pressure
early onset
big data
artificial intelligence
body composition
study protocol