Clinical and molecular investigation of Friedreich Ataxia in Iranian patients

Friedreich ataxia (FA) is an autosomal recessive disorder that caused by the expansion of GAA trinucleotide repeat in the first intron of gene X25 (1). FA is characterized by progressive ataxia and deep tendon areflexia in the lower limbs, dysarthria, skeletal deformities, Cardiomyopathy, muscle weakness and diabetes mellitus may be also found. Cardiomyopathy occurs in almost patients with FA (2). Cardiomyopathy is the most cause of death in FA patients (3). Aim of present study was to evaluate the size of GAA repeat and it′s correlation with age at onset and cardiomyopathy in these patients. Long PCR testing subsequently confirmed the diagnosing of FA and by identification of GAA repeat, an inverse correlation between size of repeat and age at onset and cardiomyopathy was found. Keywords: Friedreich ataxia, Age at onset, cardiomyopathy,