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Friedreich’s ataxia (FRDA), the most common hereditary ataxia, is an autosomal recessive neurodegenerative disorder characterized clinically by progressive gait and limb ataxia, loss of reflexes and vibration and joint position sense in the lower extremities, extensor plantar responses, and, usually, motor weakness.1 Patients may also have cardiomyopathy and diabetes mellitus.1 FRDA pathology includes degeneration of the posterior columns and spinocerebellar tracts of the spinal cord, and loss of the large sensory cells of the dorsal root ganglia.2
The genetic abnormality seen in more than 95% of patients with FRDA involves a GAA repeat expansion in the first intron of a gene encoding the protein frataxin,3 which results in loss of protein expression and function.4 Studies of frataxin function have suggested a role …
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