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
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INTRODUCTION

Friedreich ataxia (FRDA), is a progressive neurode generative disorder of autosomal recessive inheritance [1]. It is the most common hereditary ataxia, with an estimated prevalence of 1 in 50,000 [2-4], and a carrier frequency of about 1 in 120 in the Caucasian population [5]. The cardinal feature is gait ataxia followed by upper limb ataxia, cerebellar dysarthria, nystagmus, areflexia, loss of joint position sense and spastic paraparesis [6], developing from the second decade of life. Hypertrophic cardiomyopathy occurs in almost all patients [7], diabetes mellitus in about 10% of patients, carbohydrate intolerance in an additional 20%, and a reduced insulin response to arginine stimulation in all patients [8]. Friedreich’s ataxia is associated with an unstable expansion of a GAA trinucleotide repeat in the first intron of the frataxin gene on chromosome 9q13 [9]. Normal alleles contain five to 60 GAA repeats. The number of repeats in FRDA patients varies from 66 to 1,700, and results in a decreased expression of this gene [9-12], which probably leads to mitochondrial iron accumulation and free radical damage of oxidative phosphorylation processes [13,14]. In about 96% of the patients, both alleles are expanded, while 4% of patients are compound heterozygotes for GAA expansion in the diseasecausing range and an inactivating mutation [9]. Friedreich’s ataxia shows broad clinical variability [15,16]. The Harding diagnostic criteria can be used to differentiate between typical and non typical FRDA cases, but the differential diagnosis from some of the juvenile spinocerebellar ataxias remains a clinical problem. Molecular analysis can be useful to confirm clinical diagnosis and to detect carriers.




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