TL;DRAbstract
Friedreich’s ataxia (FRDA) is the most common of the autosomal recessive cerebellar ataxias. According to the Harding’s criteria, FRDA begins before the end of puberty or at least before the age of 25. The FRDA gene encodes frataxin, a protein which is involved in mitochondrial iron regulation. The phenotypic spectrum has appeared to widen since the identification of mutations in the FRDA gene. Notable atypical features include late-onset forms of FRDA and individuals with preserved tendon reflexes. Almost all patients are homozygous for a GAA expansion which occurs at the intron 1 of the FRDA gene. Normal individuals have up to 40 GAA repeats, but this number may vary from 70 to over 1,700 repeats.
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Friedreich’s ataxia (FRDA) is the most common of the autosomal recessive cerebellar ataxias. According to the Harding’s criteria, FRDA begins before the end of puberty or at least before the age of 25. The FRDA gene encodes frataxin, a protein which is involved in mitochondrial iron regulation. The phenotypic spectrum has appeared to widen since the identification of mutations in the FRDA gene. Notable atypical features include late-onset forms of FRDA and individuals with preserved tendon reflexes. Almost all patients are homozygous for a GAA expansion which occurs at the intron 1 of the FRDA gene. Normal individuals have up to 40 GAA repeats, but this number may vary from 70 to over 1,700 repeats.
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