Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Victoria Campuzano(Centre National de la Recherche Scientifique), Laura Montermini(Baylor College of Medicine), María Dolores Moltó(Baylor College of Medicine), Luigi Pianese(Institute for Experimental Endocrinology and Oncology), Mireille Cossée(Centre National de la Recherche Scientifique), Francesca Cavalcanti(Istituto Neurologico Mediterraneo), Eugènia Monrós(Hospital Universitari i Politècnic La Fe), François Rodius(Centre National de la Recherche Scientifique), Franck Duclos(Centre National de la Recherche Scientifique), Antonella Monticelli(Institute for Experimental Endocrinology and Oncology), Federico Zara(Baylor College of Medicine), Joaquı́n Cañizares(Universitat de València), Hana Koutníková(Centre National de la Recherche Scientifique), Sanjay I. Bidichandani(Baylor College of Medicine), Cinzia Gellera(Fondazione IRCCS Istituto Neurologico Carlo Besta), Alexis Brice(Sorbonne Université), P Trouillas(Hôpital Pierre Wertheimer), Giuseppe De Michele(Federico II University Hospital), Alessandro Filla(Federico II University Hospital), R. de Frutos(Universitat de València), Francesc Palau(Hospital Universitari i Politècnic La Fe), Pragna I. Patel(Baylor College of Medicine), Stefano Di Donato(Fondazione IRCCS Istituto Neurologico Carlo Besta), Jean‐Louis Mandel(Centre National de la Recherche Scientifique), Sergio Cocozza(Institute for Experimental Endocrinology and Oncology), Michel Koenig(Centre National de la Recherche Scientifique), Massimo Pandolfo(Fondazione IRCCS Istituto Neurologico Carlo Besta)
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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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