🖊 Friedreich’s ataxia (FRDA) is an autosomal recessive spinocerebellar ataxia. 🖊 In the majority of cases the disease is caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, and the shorter repeat expansion length correlates with age at onset and disease severity. 🖊 The clinical phenotype is broad, but consistently involves gait and limb ataxia, dysarthria and loss of lower limb reflexes. 🖊 Our understanding of the genetic aetiology, pathophysiology and clinical phenotype has progressed significantly.
🖊 Friedreich’s ataxia (FRDA) is an autosomal recessive spinocerebellar ataxia. 🖊 In the majority of cases the disease is caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, and the shorter repeat expansion length correlates with age at onset and disease severity. 🖊 The clinical phenotype is broad, but consistently involves gait and limb ataxia, dysarthria and loss of lower limb reflexes. 🖊 Our understanding of the genetic aetiology, pathophysiology and clinical phenotype has progressed significantly.
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