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. 1996 Mar 8;271(5254):1423-7.
doi: 10.1126/science.271.5254.1423.

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

V Campuzano  1 , L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli, F Zara, J Cañizares, H Koutnikova, S I Bidichandani, C Gellera, A Brice, P Trouillas, G De Michele, A Filla, R De Frutos, F Palau, P I Patel, S Di Donato, J L Mandel, S Cocozza, M Koenig, M Pandolfo
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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

V Campuzano et al. Science. .

Abstract

Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.

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