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

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

Research output: Contribution to journalArticlepeer-review

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. The 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.

Original languageEnglish
Pages (from-to)1423-1427
Number of pages5
JournalScience
Volume271
Issue number5254
Publication statusPublished - Mar 8 1996

ASJC Scopus subject areas

  • General

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