A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy

A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy; Tyler L Perfitt, Claudia Huichalaf, Renea Gooch, Anna Kuperman, Youngwook Ahn, Xian Chen, Soumya Ullas, Dinesh Hirenallur-Shanthappa, Yutian Zhan, Diana Otis, Laurence O. Whiteley, Christine Bulawa, and Alain Martelli, American Journal of Physiology-Heart and Circulatory Physiology 0 0:0, doi:10.1152/ajpheart.00496.2023 

This modified model reproduced important pathophysiological and biochemical features of FA over a longer timescale than previous cardiac-specific mouse models, offering a larger window for studying potential therapeutics.

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Aguilera, C., Esteve-Garcia, A., Casasnovas, C. et al. Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?. BMC Med Genomics 16, 312 (2023). doi:10.1186/s12920-023-01743-0 

We describe a patient presenting with novel intragenic deletion and an expansion on the FXN gene who shows the typical progression and clinical features of FRDA. We believe that parental sample testing should be performed in all FRDA patients that present an apparent biallelic expansion in order to offer proper genetic counselling.