ABSTRACT
Friedreich ataxia (FRDA), the most common inherited ataxia, was first described as a distinct clinical syndrome in 1863 by Nicholaus Friedreich, Professor of Medicine in Heidelberg, Germany. The well documented clinical features of FRDA include progressive ataxia, spasticity, absent lower limb reflexes, impaired vibration sense and proprioception, scoliosis, foot deformity and cardiomyopathy. Pathology associated with FRDA targets multiple organ systems and sites in the central and peripheral nervous system resulting in numerous symptoms. The neuropathology associated with FRDA and most often preceding the first symptoms is a consequence of neuronal death secondary to frataxin deficiency. The search for disease-modifying therapies for FRDA remains active, with the three main therapeutic approaches including antioxidants and enhancers of mitochondrial function, iron chelators and agents that increase frataxin expression. A number of drugs have reached the human clinical trial phase, however, to date none have proven beneficial nor been approved for use in FRDA.
