Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia

Fleszar, Z., Dufke, C., Sturm, M. et al. Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia. J Neurol (2023). doi:10.1007/s00415-023-11745-8 

We here showcase how the introduction of short-read genome sequencing (SR-GS) allows to overcome these biases in the work-up of complex ataxias, as it allows to detect even intronic STRs (i) “en route”, i.e. with detection not requiring any primary direct gene analysis; and (ii) in a phenotype-independent fashion”, i.e. also for those atypical phenotypic presentations where the corresponding gene and mutational mechanism had not been part of the prior differential clinical diagnosis.

Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia