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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. 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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https://hal.univ-lorraine.fr/hal-03168023
Contributor : François Rodius <>
Submitted on : Friday, March 12, 2021 - 4:05:58 PM
Last modification on : Friday, March 19, 2021 - 10:24:21 AM

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Victoria Campuzano, Laura Montermini, Maria Dolores Molto, Luigi Pianese, Mireille Cossée, et al.. Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion. Science, American Association for the Advancement of Science, 1996, 271 (5254), pp.1423-1427. ⟨10.1126/science.271.5254.1423⟩. ⟨hal-03168023⟩

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