<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Friedreich's ataxia (FRDA) is rare a progressive neurodegenerative 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 spinocerebellar 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 frataxin gene and all of these had early onset ataxia. The number of GAA repeats was in the normal range in 50 healthy individuals.</p></abstract>

Friedreich's ataxia (FRDA) is rare a progressive neurodegenerative 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 spinocerebellar 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 frataxin gene and all of these had early onset ataxia. The number of GAA repeats was in the normal range in 50 healthy individuals.

Molecular Analysis of Friedreich's Ataxia in Macedonian Patients

Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, 1000 Skopje, Republic of Macedonia

Pediatric Clinic, Faculty of Medicine, 1000 Skopje, Republic of Macedonia

Neurology Clinic, Faculty of Medicine, 1000 Skopje, Republic of Macedonia

Balkan Journal of Medical Genetics

{"article-title":"Molecular Analysis of Friedreich's Ataxia in Macedonian Patients"}

Friedreich's ataxia (FRDA) is rare a progressive neurodegenerative disorder of autosomal recessive inheritance, which is associated with an unstable expansion...

Molecular Analysis of Friedreich's Ataxia in Macedonian Patients

Publié en ligne: 12 nov. 2008

Pages: 61 - 64

DOI: https://doi.org/10.2478/v10034-008-0019-8

This content is open access.