Abstrakt
Friedreich's ataxia (FA) is a neurodegenerative disorder with an autosomal recessive pattern of inheritance, resulting from amplified intronic GAA repeats in FXN domain on chromosome 9q13-q21.1. The defect disrupts production of frataxin, which regulates iron transfer in the mitochondria and results in excessive free radical generation with subsequent neuronal degeneration.
FA is a common (1:50,000) inherited ataxia and presents with progressive neurologic symptoms (spinocerebellar ataxia, arreflexia, pyramidal signs, dysarthria and nystagmus). Notably, cardiac involvement is frequent in this disorder and most patients succumb to heart failure.
There is controversy in choosing the appropriate therapeutic strategy in such patients and prevalent guidelines do not specifically address this dilemma.