Molecular Analysis of Friedreich's Ataxia in Macedonian Patients

Abstract

Friedreich's ataxia (FRDA) is rare a progressive neuro degenerative disorder of autosomal recessive inheritance, which is associated with an unstable expansion of a GAA trinucleotide repeat in the first intron of the frataxin gene on chromosome 9q13. We have performed molecular analyses of the frataxin gene of 40 patients with spino cerebellar ataxia from the Republic of Macedonia. Fifteen had early onset of progressive ataxia (before the age of 25), while the remainder were over 25 years old at the time of diagnosis. Only 14 patients had a mutation in the frat axin gene and all of these had early onset ataxia. The number of GAA repeats was in the normal range in 50 healthy individuals.

Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats and FXN Gene Exons in Population from Western India

“…Therefore, the presence of expanded GAA repeats in first intron of the FXN gene is used as basis for molecular diagnosis of FRDA in most of the cases. Many techniques have been explored for estimating GAA repeat size [2,[13][14][15][16][17][18][19]. Occurrence of FRDA has been reported to be less frequent in Indian population [30].…”

“…However, since many neurological disorders share similar symptoms, it is necessary to use molecular diagnostic tests to confirm the diagnosis. Many diagnostic techniques for FRDA are available based on analysis of DNA [2,[13][14][15][16][17][18][19] as well as measurement of frataxin mRNA [20] and protein levels [21][22][23][24]. Also, many mutations have been identified in the FXN gene [2,14,[25][26][27][28][29].…”