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

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.

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Affiliated Institutions

• Centre National de la Recherche Scientifique FR
• Inserm FR
• Hospital Universitari i Politècnic La Fe ES
• Sorbonne Université FR
• Hôpital Pierre Wertheimer FR
• Universitat de València ES
• Pitié-Salpêtrière Hospital FR
• Baylor College of Medicine US
• University of Naples Federico II IT
• Fondazione IRCCS Istituto Neurologico Carlo Besta IT
• Institute for Experimental Endocrinology and Oncology IT
• Istituto Neurologico Mediterraneo IT
• Institut de génétique et de biologie moléculaire et cellulaire FR

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