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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

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Campuzano, Victoria | Montermini, Laura | Molto, Maria Dolores | Pianese, Luigi | Cossée, Mireille | Cavalcanti, Francesca | Monros, Eugenia | Rodius, François | Duclos, Franck | Monticelli, Antonella | Zara, Federico | Canizares, Joaquin | Koutnikova, Hana | Bidichandani, Sanjay I. | Gellera, Cinzia | Brice, Alexis | Trouillas, Paul | de Michele, Guiseppe | Filla, Alessandro | de Frutos, Rosa | Palau, Francisco | Patel, Pragna I | Di Donato, Stefano | Mandel, Jean Louis | Cocozza, Sergio | Koenig, Michel | Pandolfo, Massimo

Edité par CCSD ; American Association for the Advancement of Science (AAAS) -

International audience. 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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