Wednesday, September 18, 2024

Early Genetic Testing Avoids Treatment Delays for Patients with Friedreich Ataxia

EMJ. 2024;9[3]:14-23. doi:10.33590/emj/RSCJ7037 
This industry-sponsored symposium took place during the European Association of Neurology (EAN) Congress held in Helsinki, Finland, 29 June−2 July, 2024.

At the 2024 European Association of Neurology (EAN) Congress, one satellite symposium discussed the recognition, diagnosis, and treatment of Friedreich ataxia (FA), the most common hereditary ataxia. This condition is characterised by progressive neurodegeneration, multisystem complications, loss of ambulation, and reductions in the ability to carry out activities of daily living (ADL). For many, there is also a premature death. FA is caused by guanine-adenine-adenine triplet (GAA) repeat expansions in the gene FXN. This codes for the protein frataxin, loss of which is associated with impaired mitochondrial function, increased sensitivity to oxidative stress and reactive oxygen species levels, increased inflammation, and cell death.