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Clinical Monitoring in a Patient With Friedreich Ataxia and Osteogenic Sarcoma

Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by mutations in the FXN gene that result in abnormally low levels of the mitochondrial protein frataxin. The authors recently used a lateral flow immunoassay to measure frataxin levels in a large cohort of controls, carriers, and patients with the condition. The findings show that frataxin levels do not appreciably change over time and correlate well with GAA(1) repeat length and age of onset; thus, frataxin is a reliable and stable marker for severity of disease.

Read More: Clinical Monitoring in a Patient With Friedreich Ataxia and Osteogenic Sarcoma

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