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Onset is typically around puberty with slow progression and shortened life\u2010span often related to cardiac complications. Inheritance is autosomal recessive with the vast majority of cases showing an unstable intronic <jats:styled-content style=\"fixed-case\">GAA<\/jats:styled-content> expansion in both alleles of the frataxin gene on chromosome 9q13. A small number of cases are caused by a compound heterozygous expansion with a point mutation or deletion. Understanding of the underlying molecular biology has enabled identification of atypical phenotypes with late onset, or atypical features such as retained reflexes. Late\u2010onset cases tend to have slower progression and are associated with smaller <jats:styled-content style=\"fixed-case\">GAA<\/jats:styled-content> expansions. Early\u2010onset cases tend to have more rapid progression and a higher frequency of non\u2010neurological features such as diabetes, cardiomyopathy, scoliosis and pes cavus. Compound heterozygotes, including those with large deletions, often have atypical features. 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