Friedreich ataxia is a neurological disorder caused by mutations in the FXN gene encoding a mitochondrial protein, frataxin. The disorder involves damage to the cerebellum, spinal cord, and peripheral nerves that carry signals from the brain and spinal cord to the muscles.
Historically, Friedreich ataxia has been diagnosed by DNA-based testing. However, a molecular-based analysis does not effectively monitor treatment, is not amenable to multiplexing with other disease analytes, nor can it be efficiently utilized for population screening.
In contrast, a protein-based assay measuring concentration of frataxin is suitable for both diagnosis and treatment monitoring in individuals with Friedreich ataxia. This assay is also useful when the clinical suspicion of the disease is present and a clinician wants to include or exclude its possibility in a cost-effective manner.
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