MOLECULAR ANALYSIS OF FRIEDREICH’S ATAXIA IN MACEDONIAN PATIENTS
Kocheva S1,2, Trivodalieva S1, Vlaski-Jekic S3, Kuturec M2, Efremov GD1,*
*Corresponding Author: Professor Dr. Georgi D. Efremov, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Aven Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel: +3892-120253; Fax: +3892-115434; E-mail:gde@manu.edu
page: 61

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.




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