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What is Friedreich's ataxia is caused due to triplet repeats of: and explain in detail?
The classic form of Friedreich's ataxia has been mapped to 9q13-q21.1, and the mutant gene, frataxin, contains expanded GAA triplet repeats in the first intron. There is homozygosity for expanded GAA repeats in more than 95% of patients. Normal persons have 7-22 GAA repeats, and patients have 200-900 GAA repeats. A more varied clinical syndrome occurs in compound heterozygotes who have one copy of the GAA expansion and the other copy a point mutation in the frataxin gene. When the point mutation is located in the region of the gene that encodes the amino-terminal half of frataxin, the phenotype is milder, often consisting of a spastic gait, retained or exaggerated reflexes, no dysahria, and mild or absent ataxia. Ref: Harrison's principle of internal medicine 17th edition.