Generating Effective Mouse Models
of Friedreich’s Ataxia


Friedreich’s Ataxia (FA) is a progressive, autosomal recessive, neurodegenerative disease. Its onset, typically around puberty, is marked by a rapid progression, with most patients relying on a wheelchair by their late 20s. FA is caused by a trinucleotide (GAA) repeat expansion mutation within intron 1 of the frataxin gene. The severity of the disease directly correlates to the size of the expansion.

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