hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias Opportunities and Future Challenges

Dunja Lukovic, Victoria Moreno-Manzano, Francisco Javier Rodriguez-Jimenez, Angel Vilches, Eva Sykova, Pavla Jendelova, Miodrag Stojkovic, Slaven Erceg; Neuroscientist 1073858416672652, first published on October 6, 2016 DOI:10.1177/1073858416672652

This work, for the first time, bridges the preclinical drug evaluation in FRDA-specific patient neurons derived from hiPSC and clearly shows the advantages of using hiPSC differentiated cells compared with other widely used cellular models, such as immortalized cell lines and those tested on rodent cells. Although these studies have provided insights into the pathogenesis of FRDA in cardiomyocytes and neurons, additional work is required to elucidate the role of frataxin deficits in other affected cell types, such as the cerebellar neurons.