Genetic and phenotypic variability between paired siblings with FRDA was moderate to small, with GAA1 differences explaining some of the variance in AAO. Other factors (genetic or environmental) or data collection bias may explain the remaining variance. These findings highlight the complexity of FRDA and reiterate the role of GAA1 length in disease severity.
Saturday, September 13, 2025
Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia
Eshaghi K, Rao PH, Shen MM, Lynch DR. Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia. Neurol Genet. 2025 Jan 13;11(1):e200234. doi: 10.1212/NXG.0000000000200234. PMID: 40880907; PMCID: PMC11731371.
